Klinische FragestellungHelsmoortel-Van der Aa-Syndrom, Differentialdiagnose

NGS + X

• Alias: ADNP-Related Disorder
• Included: Intellectual deficit, non syndromic, AR
• Included: Intellectual disability XL
• Included: Intellectual disability, AD
• Included: Mental retardation, non syndromic, AR
• Included: Psycho-motor retardation XL
• Included: Psycho-motor retardation, AD
• Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
• Allelic: Anterior segment dysgenesis 5, multiple subtypes (PAX6)
• Allelic: Basal cell nevus syndrome (PTCH1)
• Allelic: Brachydactyly, type B1 (ROR2)
• Allelic: Brugada syndrome 3 (CACNA1C)
• Allelic: Cardiomyopathy, dilated, 1NN (RAF1)
• Allelic: Cataract 21, multiple types (MAF)
• Allelic: Cataract with late-onset corneal dystrophy (PAX6)
• Allelic: Chilblain lupus (TREX1)
• Allelic: Chondrocalcinosis 2 (ANKH)
• Allelic: Chorea, hereditary benign (NKX2-1)
• Allelic: Coloboma of optic nerve (PAX6)
• Allelic: Coloboma, ocular (PAX6)
• Allelic: Colorectal cancer, somatic (BRAF)
• Allelic: Colorectal cancer, somatic (CTNNB1)
• Allelic: Corneal dystrophy, Fuchs endothelial, 3 (TCF4)
• Allelic: Cowden syndrome 5 (PIK3CA)
• Allelic: Craniosynostosis 1(TWIST1)
• Allelic: Cutis laxa, AD 3 (ALDH18A1)
• Allelic: Cutis laxa, AR, type IID (ATP6V1A)
• Allelic: Cutis laxa, AR, type IIIA (ALDH18A1) 3
• Allelic: Deafness, AD 20 + 26 (ACTG1)
• Allelic: Deafness, congenital, with onychodystrophy, AD (ATP6V1B2)
• Allelic: Diabetes mellitus, transient neonatal 3 (KCNJ11)
• Allelic: Diabetes mellitus, type 2, susceptibility to (KCNJ11)
• Allelic: Dyschromatosis symmetrica hereditaria (ADAR)
• Allelic: Dystonia 4, torsion, AD (TUBB4A)
• Allelic: Dystonia, juvenile-onset (ACTB)
• Allelic: Epilepsy, XL, with variable learning disabilities + behavior disorders (SYN1)
• Allelic: Epilepsy, childhood absence, susceptibility to, 4 (GABRA1)
• Allelic: Epilepsy, childhood absence, susceptibility to, 5 (GABRB3)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 1 (SLC12A5)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
• Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 5 (GABRA1)
• Allelic: Episodic ataxia, type 9 (SCN2A)
• Allelic: Exudative vitreoretinopathy 7 (CTNNB1)
• Allelic: FG syndrome 4 (CASK)
• Allelic: Facial clefting, oblique, 1 (SPECC1L)
• Allelic: Febrile seizures, familial, 8 (GABRG2)
• Allelic: Fibromatosis, gingival, 1 (SOS1)
• Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
• Allelic: Foveal hypoplasia 1 (PAX6)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: Gracile bone dysplasia (FAM111A)
• Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
• Allelic: Growth hormone deficiency with pituitary anomalies (HESX1)
• Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A1, COL4A2)
• Allelic: Hepatocellular carcinoma, somatic (CTNNB1)
• Allelic: Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
• Allelic: Hyperphenylalaninemia, BH4-deficient, B (GCH1)
• Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Allelic: Hypomagnesemia 6, renal (CNNM2)
• Allelic: Immunodeficiency 49 (BCL11B)
• Allelic: Juvenile myelomonocytic leukemia (CBL)
• Allelic: Keratitis (PAX6)
• Allelic: Kosaki overgrowth syndrome (PDGFRB)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Lipodystrophy, congenital generalized, type 2 (BSCL2)
• Allelic: Long QT syndrome 8 (CACNA1C)
• Allelic: Lymphangioleiomyomatosis (TSC1)
• Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
• Allelic: Lymphatic malformation 3 (GJC2)
• Allelic: Maturity-onset diabetes of the young, type 13 (KCNJ11)
• Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
• Allelic: Medulloblastoma, somatic (CTNNB1)
• Allelic: Meningioma (PTEN)
• Allelic: Meningioma, familial, susceptibility to (SMARCE1)
• Allelic: Metachondromatosis (PTPN11)
• Allelic: Microphthalmia with coloboma 5 (SHH)
• Allelic: Migraine, familial hemiplegic, 3 (SCN1A)
• Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 2 (SAMD9)
• Allelic: Morning glory disc anomaly (PAX6)
• Allelic: Mungan syndrome (RAD21)
• Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
• Allelic: Myofibromatosis, infantile, 1 (PDGFRB)
• Allelic: Myokymia (KCNQ2)
• Allelic: Neurofibromatosis, familial spinal (NF1)
• Allelic: Neuropathy, distal hereditary motor, type VC (BSCL2)
• Allelic: Neuropathy, hereditary sensory, type ID (ATL1)
• Allelic: Neuropathy, hereditary sensory, type IIC (KIF1A)
• Allelic: Nicotine dependence, protection against + susceptibility to (GABBR2)
• Allelic: Optic nerve hypoplasia (PAX6)
• Allelic: Orofacial cleft 11 (BMP4)
• Allelic: Osseous heteroplasia, progressive (GNAS)
• Allelic: Ovarian cancer, somatic (CTNNB1)
• Allelic: Pilomatricoma, somatic (CTNNB1)
• Allelic: Pituitary adenoma 3, multiple types, somatic (GNAS)
• Allelic: Pituitary hormone deficiency, combined, 5 (HESX1)
• Allelic: Pituitary hormone deficiency, combined, 6 (OTX2)
• Allelic: Pontocerebellar hypoplasia, hypotonia, respiratory insuff., neonatal lethal (ATAD3A)
• Allelic: Pseudohypoparathyroidism Ib (GNAS)
• Allelic: Raynaud-Claes syndrome (CLCN4)
• Allelic: Retinal arteries, tortuosity of (COL4A1)
• Allelic: Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
• Allelic: Retinitis pigmentosa 59 (DHDDS)
• Allelic: Rhabdoid tumor predisposition syndrome (SMARCA4)
• Allelic: Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
• Allelic: Rhabdoid tumors, somatic (SMARCB1)
• Allelic: Robinow-Sorauf syndrome (TWIST1)
• Allelic: Schizophrenia, susceptibility to, 17 (NRXN1)
• Allelic: Schwannomatosis-1, susceptibility to (SMARCB1)
• Allelic: Schwannomatosis-2, susceptibility to (LZTR1)
• Allelic: Seizures, benign familial infantile, 3 (SCN2A)
• Allelic: Seizures, benign familial infantile, 5 (SCN8A)
• Allelic: Seizures, benign neonatal, 1 (KCNQ2)
• Allelic: Sinoatrial node dysfunction + deafness (CACNA1D)
• Allelic: Symmetric circumferential skin creases, congenital, 1 (TUBB)
• Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
• Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
• Allelic: Transposition of the great arteries, dextro-looped 1 (MED13L)
• Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
• Allelic: Waardenburg syndrome, type 4C (SOX10)
• Allelic: Watson syndrome (NF1)
• Aarskog-Scott syndrome (FGD1)
• Acampomelic campomelic dysplasia (SOX9)
• Acrodysostosis 2, with/-out hormone resistance (PDE4D)
• Acromelic frontonasal dysostosis (ZSWIM6)
• Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
• Aicardi-Goutieres syndrome 6 (ADAR)
• Aicardi-Goutieres syndrome 7 (IFIH1)
• Alcohol dependence, susceptibility to (GABRA2)
• Alexander disease (GFAP)
• Amyotrophic lateral sclerosis, susceptibility to, 25 (KIF5A)
• Angelman syndrome (UBE3A)
• Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
• Aniridia (PAX6)
• Arboleda-Tham syndrome (KAT6A)
• Arthrogryposis, cleft palate, craniosynostosis, impaired intellectual development (PPP3CA)
• Arts syndrome (PRPS1)
• Asperger syndrome susceptibility, XL (NLGN3)
• Au-Kline syndrome (HNRNPK)
• Autism susceptibility 17 (SHANK2)
• Autism susceptibility, XL 3 (MECP2)
• Autism, susceptibility to, 18 (CHD8)
• Autism, susceptibility to, XL 5 (RPL10)
• Ayme-Gripp syndrome (MAF)
• Bachmann-Bupp syndrome (ODC1)
• Bainbridge-Ropers syndrome (ASXL3)
• Baker-Gordon syndrome (SYT1)
• Baraitser-Winter syndrome 1 (ACTB)
• Baraitser-Winter syndrome 2 (ACTG1)
• Basal ganglia calcification, idiopathic, 4 (PDGFRB)
• Birk-Barel syndrome (KCNK9)
• Bohring-Opitz syndrome (ASXL1)
• Borjeson-Forssman-Lehmann syndrome (PHF6)
• Bosch-Boonstra-Schaaf optic atrophy syndrome (NR2F1)
• Brachydactyly-mental retardation syndrome (HDAC4?)
• Brain malformations with/-out urinary tract defects (NFIA)
• Brain small vessel disease 2 (COL4A2)
• Brain small vessel disease with/-out ocular anomalies (COL4A1)
• CHARGE syndrome (CHD7)
• CHOPS syndrome (AFF4)
• Campomelic dysplasia (SOX9)
• Campomelic dysplasia with autosomal sex reversal (SOX9)
• Cardiac, facial + digital anomalies with developmental delay (TRAF7)
• Cardiofaciocutaneous syndrome (BRAF)
• Cardiofaciocutaneous syndrome 2 (KRAS)
• Cardiofaciocutaneous syndrome 3 (MAP2K1)
• Cardiofaciocutaneous syndrome 4 (MAP2K2)
• Cerebellar ataxia, nonprogressive, with mental retardation (CAMTA1)
• Cerebrocostomandibular syndrome (SNRPB)
• Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
• Charcot-Marie-Tooth disease, axonal, type 2DD (ATP1A1)
• Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
• Chromosome 5q14.3 deletion syndrome (MEF2C)
• Chung-Jansen syndrome (PHIP)
• Cleft palate, cardiac defects + mental retardation (MEIS2)
• Cleft palate, psychomotor retardation + distinctive facial features (KDM1A)
• Coffin-Lowry syndrome (RPS6KA3)
• Coffin-Siris syndrome 1 (ARID1B)
• Coffin-Siris syndrome 10 (SOX4)
• Coffin-Siris syndrome 11 (SMARCD1)
• Coffin-Siris syndrome 2 (ARID1A)
• Coffin-Siris syndrome 3 (SMARCB1)
• Coffin-Siris syndrome 4 (SMARCA4)
• Coffin-Siris syndrome 5 (SMARCE1)
• Coffin-Siris syndrome 6 (ARID2)
• Coffin-Siris syndrome 7 (DPF2)
• Coffin-Siris syndrome 8 (SMARCC2)
• Coffin-Siris syndrome 9 (SOX11)
• Cognitive impairment with/-out cerebellar ataxia (SCN8A)
• Cohen-Gibson syndrome (EED)
• Congenital anomalies of kidney, urinary tract s. +/- hearing loss, abn. ears or devel. delay (PBX1)
• Congenital contractures of the limbs + face, hypotonia + developmental delay (NALCN)
• Congenital disorder of glycosylation, type 1bb (DHDDS)
• Congenital disorder of glycosylation, type IIi (COG5)
• Congenital heart defects + ectodermal dysplasia (PRKD1)
• Congenital heart defects, dysmorphic facial features, intellectual developmental disorder (CDK13)
• Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1)
• Congenital myopathy with excess of muscle spindles (HRAS)
• Cornelia de Lange syndrome 1 (NIPBL)
• Cornelia de Lange syndrome 3 (SMC3)
• Cornelia de Lange syndrome 4 (RAD21)
• Corpus callosum, agenesis of, with mental retardation, ocular coloboma + micrognathia (IGBP1)
• Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
• Cortical dysplasia, complex, with other brain malformations 2 (KIF5C)
• Cortical dysplasia, complex, with other brain malformations 3 (KIF2A)
• Cortical dysplasia, complex, with other brain malformations 4 (TUBG1)
• Cortical dysplasia, complex, with other brain malformations 5 (TUBB2A)
• Cortical dysplasia, complex, with other brain malformations 6 (TUBB)
• Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
• Costello syndrome (HRAS)
• Cowden syndrome 1 (PTEN)
• Craniometaphyseal dysplasia (ANKH)
• Culler-Jones syndrome (GLI2)
• D-2-hydroxyglutaric aciduria 2 (IDH2)
• Deafness, AD 75 (TRRAP)
• Dentatorubral-pallidoluysian atrophy (ATN1)
• Desanto-Shinawi syndrome (WAC)
• Developmental + epileptic encephalopathy 11 (SCN2A)
• Developmental + epileptic encephalopathy 13 (SCN8A)
• Developmental + epileptic encephalopathy 14 (KCNT1)
• Developmental + epileptic encephalopathy 15 (ST3GAL3)
• Developmental + epileptic encephalopathy 17 (GNAO1)
• Developmental + epileptic encephalopathy 19 (GABRA1)
• Developmental + epileptic encephalopathy 24 (HCN1)
• Developmental + epileptic encephalopathy 26 (KCNB1)
• Developmental + epileptic encephalopathy 27 (GRIN2B)
• Developmental + epileptic encephalopathy 31 (DNM1)
• Developmental + epileptic encephalopathy 32 (KCNA2)
• Developmental + epileptic encephalopathy 33 (EEF1A2)
• Developmental + epileptic encephalopathy 4 (STXBP1)
• Developmental + epileptic encephalopathy 41 (SLC1A2)
• Developmental + epileptic encephalopathy 42 (CACNA1A)
• Developmental + epileptic encephalopathy 43 (GABRB3)
• Developmental + epileptic encephalopathy 46 (GRIN2D)
• Developmental + epileptic encephalopathy 47 (FGF12)
• Developmental + epileptic encephalopathy 54 (HNRNPU)
• Developmental + epileptic encephalopathy 56 (YWHAG)
• Developmental + epileptic encephalopathy 57 (KCNT2)
• Developmental + epileptic encephalopathy 58 (NTRK2)
• Developmental + epileptic encephalopathy 59 (GABBR2)
• Developmental + epileptic encephalopathy 62 (SCN3A)
• Developmental + epileptic encephalopathy 64 (RHOBTB2)
• Developmental + epileptic encephalopathy 65 (CYFIP2)
• Developmental + epileptic encephalopathy 66 (PACS2)
• Developmental + epileptic encephalopathy 67 (CUX2)
• Developmental + epileptic encephalopathy 69 (CACNA1E)
• Developmental + epileptic encephalopathy 6B, non-Dravet (SCN1A)
• Developmental + epileptic encephalopathy 7 (KCNQ2)
• Developmental + epileptic encephalopathy 70 (PHACTR1)
• Developmental + epileptic encephalopathy 74 (GABRG2)
• Developmental + epileptic encephalopathy 76 (ACTL6B)
• Developmental + epileptic encephalopathy 78 (GABRA2)
• Developmental + epileptic encephalopathy 91 (PPP3CA)
• Developmental + epileptic encephalopathy 92 (GABRB2)
• Developmental + epileptic encephalopathy 93 (ATP6V1A)
• Developmental + epileptic encephalopathy 94 (CHD2)
• Developmental and epileptic encephalopathy 34 (SLC12A5)
• Developmental delay + seizures with/-out movement abnormalities (DHDDS)
• Developmental delay with variable intellectual impairment + behavioral abnormalities (TCF20)
• Developmental delay with-out dysmorphic facies + autism (TRRAP)
• Diabetes, permanent neonatal 2, with/-out neurologic features (KCNJ11)
• Dias-Logan syndrome (BCL11A)
• Dravet syndrome (SCN1A)
• Dystonia 9 (SLC2A1)
• Dystonia, DOPA-responsive, with/-out hyperphenylalaninemia (GCH1)
• Encephalopathy, neonatal severe (MECP2)
• Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
• Epilepsy nocturnal frontal lobe, 5 (KCNT1)
• Epilepsy, XL, with variable learning disabilities + behavior disorders (SYN1)
• Epilepsy, familial focal, with variable foci 1 (DEPDC5)
• Epilepsy, familial focal, with variable foci 4 (SCN3A)
• Epilepsy, focal, with speech disorder +/- impaired intellectual development (GRIN2A)
• Epilepsy, progressive myoclonic 7 (KCNC1)
• Episodic ataxia, type 2 (CACNA1A)
• Febrile seizures, familial, 3A (SCN1A)
• Feingold syndrome 1 (MYCN)
• Focal cortical dysplasia, type II, somatic (MTOR)
• Focal cortical dysplasia, type II, somatic (TSC1)
• Focal cortical dysplasia, type II, somatic (TSC2)
• Focal segmental glomerulosclerosis + neurodevelopmental syndrome (TRIM8)
• Fragile X syndrome (FMR1)
• GAND syndrome (GATAD2B)
• GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
• GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
• GNAI1 syndrome (GNAI1)
• Gabriele-de Vries syndrome (YY1)
• Generalized epilepsy with febrile seizures plus, type 10 (HCN1)
• Generalized epilepsy with febrile seizures plus, type 2 (SCN1A)
• Generalized epilepsy with febrile seizures plus, type 3 (GABRG2)
• Generalized epilepsy with febrile seizures plus, type 9 (STX1B)
• Genitopatellar syndrome (KAT6B)
• Glass syndrome (SATB2)
• Global developmental delay with/-out impaired intellectual development (CUX1)
• Global developmental delay, autism (CSDE1)
• Global developmental delay, intellectual disab., autism, behavioral abnorm. [panelapp] (BRSK2)
• Harel-Yoon syndrome (ATAD3A)
• Hawkinsinuria (HPD)
• Helsmoortel-van der Aa syndrome (ADNP)
• Hiatt-Neu-Cooper neurodevelopmental syndrome (RALA)
• Holoprosencephaly 11 (CDON)
• Holoprosencephaly 12, with/-out pancreatic agenesis (CNOT1)
• Holoprosencephaly 2 (SIX3)
• Holoprosencephaly 3 (SHH)
• Holoprosencephaly 4 (TGIF1)
• Holoprosencephaly 5 (ZIC2)
• Holoprosencephaly 7 (PTCH1)
• Holoprosencephaly 9 (GLI2)
• Hypertrichotic osteochondrodysplasia (ABCC9)
• Hypomagnesemia, seizures + mental retardation 2 (ATP1A1)
• Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia (PAX8)
• Hypothyroidism, congenital, nongoitrous, 6 (THRA)
• Hypotonia, ataxia + delayed development syndrome (EBF3)
• Hypotonia, ataxia, developmental delay + tooth enamel defect syndrome (CTBP1)
• Hypotonia, infantile, with psychomotor retardation + characteristic facies 1 (NALCN)
• Intellectual developmental disorder + microcephaly with pontine + cereb. hypoplasia (CASK)
• Intellectual developmental disorder + retinitis pigmentosa (SCAPER)
• Intellectual developmental disorder 60 with seizures (AP2M1)
• Intellectual developmental disorder 61 (MED13)
• Intellectual developmental disorder 62 (DLG4)
• Intellectual developmental disorder with autism + speech delay (TBR1)
• Intellectual developmental disorder with dysmorphic facies + ptosis (BRPF1)
• Intellectual developmental disorder with dysmorphic facies, behavioral abnormalities (FBXO11)
• Intellectual developmental disorder with hypotonia + behavioral abnormalities (CDK8)
• Intellectual developmental disorder with impaired language + dysmorphic facies (DDX6)
• Intellectual developmental disorder with macrocephaly, seizures + speech delay (PAK1)
• Intellectual developmental disorder with seizures + language delay (SETD1B)
• Intellectual developmental disorder with severe speech + ambulation defects (ACTL6B)
• Intellectual developmental disorder with speech delay, autism, dysmorphic facies (CNOT3)
• Intellectual developmental disorder with/-out epilepsy or cerebellar ataxia (RORA)
• Intellectual developmental disorder, AD 26 (AUTS2)
• Intellectual developmental disorder, AD 44, with microcephaly (TRIO)
• Intellectual developmental disorder, AD 50, with behavioral abnormalities (NAA15)
• Intellectual developmental disorder, AD 6, with/-out seizures (GRIN2B)
• Intellectual developmental disorder, AD 63, with macrocephaly (TRIO)
• Intellectual developmental disorder, AD 64 (ZNF292)
• Intellectual developmental disorder, AR 12 (ST3GAL3)
• Intellectual developmental disorder, AR 69 (ZBTB11)
• Intellectual developmental disorder, AR 70 (RSRC1)
• Intellectual developmental disorder, AR 71 (ALKBH8)
• Intellectual developmental disorder, XL 109 (AFF2)
• Intellectual developmental disorder, XL 50 (SYN1)
• Intellectual developmental disorder, XL, syndrome, Snijders Blok type (DDX3X)
• Intellectual developmental disorder, XL, syndromic, Wu type (GRIA3)
• Intellectual developmental disorder, behavioral abnorm., craniofacial dysmorph. +/- seizures (PHF21)
• Intellectual developmental disorder, dysmorphic facies, speech delay, T-cell abnormalities (BCL11B)
• Intellectual developmental disorder, nasal speech, dysmorphic facies, variable skel. anom. (CNOT2)
• Intellectual disability [panelapp] (ACTL6A)
• Intellectual disability [panelapp] (BRSK2)
• Intellectual disability [panelapp] (CSDE1)
• Intellectual disability, developmental delay (TAOK1)
• Intellectual disability, microcephaly [panelapp] (BRD4)
• Intellectual disability, seizures, postnatal microcephaly, short digit [panelapp] (HNRNPR)
• Jansen de Vries syndrome (PPM1D)
• Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• KBG syndrome (ANKRD11)
• Kabuki syndrome 1 (KMT2D)
• Kenny-Caffey syndrome, type 2 (FAM111A)
• Keppen-Lubinsky syndrome (KCNJ6)
• Kleefstra syndrome 1 (EHMT1)
• Kleefstra syndrome 2 (KMT2C)
• Koolen-De Vries syndrome (KANSL1)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• LEOPARD syndrome 3 (BRAF)
• Lamb-Shaffer syndrome (SOX5)
• Lenz-Majewski hyperostotic dwarfism (PTDSS1)
• Leukodystrophy, hypomyelinating, 2 (GJC2)
• Leukodystrophy, hypomyelinating, 4 (HSPD1)
• Leukodystrophy, hypomyelinating, 6 (TUBB4A)
• Lhermitte-Duclos syndrome (PTEN)
• Lissencephaly 1 (PAFAH1B1)
• Lissencephaly 3 (TUBA1A)
• Lissencephaly 9 with complex brainstem malformation (MACF1)
• Lujan-Fryns syndrome (MED12)
• Luscan-Lumish syndrome (SETD2)
• MEHMO syndrome (EIF2S3)
• MIRAGE syndrome (SAMD9)
• Macrocephaly/autism syndrome (PTEN)
• Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
• Marshall-Smith syndrome (NFIX)
• Mega-corpus-callosum syndrome with cerebellar hypoplasia, cortical malformations (MAST1)
• Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)
• Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with/-out MR (HEPACAM)
• Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (PIK3CA)
• Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (PIK3R2)
• Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (AKT3)
• Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (CCND2)
• Menke-Hennekam syndrome 1 (CREBBP)
• Menke-Hennekam syndrome 2 (EP300)
• Mental retardation + distinctive facial features with/-out cardiac defects (MED13L)
• Mental retardation + microcephaly with pontine + cerebellar hypoplasia (CASK)
• Mental retardation syndrome, XL, Siderius type (PHF8)
• Mental retardation with language impairment with/-out autistic features (FOXP1)
• Mental retardation, AD 1 (MBD5)
• Mental retardation, AD 10 (CACNG2)
• Mental retardation, AD 11 (EPB41L1)
• Mental retardation, AD 13 (DYNC1H1)
• Mental retardation, AD 21 (CTCF)
• Mental retardation, AD 22 (ZBTB18)
• Mental retardation, AD 23 (SETD5)
• Mental retardation, AD 29 (SETBP1)
• Mental retardation, AD 3 (CDH15)
• Mental retardation, AD 31 (PURA)
• Mental retardation, AD 33 (DPP6)
• Mental retardation, AD 34 (COL4A3BP)
• Mental retardation, AD 35 (PPP2R5D)
• Mental retardation, AD 36 (PPP2R1A)
• Mental retardation, AD 38 (EEF1A2)
• Mental retardation, AD 39 (MYT1L)
• Mental retardation, AD 40 (CHAMP1)
• Mental retardation, AD 41 (TBL1XR1)
• Mental retardation, AD 42 (GNB1)
• Mental retardation, AD 43 (HIVEP2)
• Mental retardation, AD 45 (CIC)
• Mental retardation, AD 46 (KDM5B)
• Mental retardation, AD 47 (STAG1)
• Mental retardation, AD 48 (RAC1)
• Mental retardation, AD 49 (TRIP12)
• Mental retardation, AD 5 (SYNGAP1)
• Mental retardation, AD 50 (NAA15)
• Mental retardation, AD 51 (KMT5B)
• Mental retardation, AD 52 (ASH1L)
• Mental retardation, AD 53 (CAMK2A)
• Mental retardation, AD 54 (CAMK2B)
• Mental retardation, AD 56 (CLTC)
• Mental retardation, AD 57 (TLK2)
• Mental retardation, AD 58 (SET)
• Mental retardation, AD 59 (CAMK2G)
• Mental retardation, AD 7 (DYRK1A)
• Mental retardation, AR 1 (PRSS12)
• Mental retardation, AR 13 (TRAPPC9)
• Mental retardation, AR 14 (TECR)
• Mental retardation, AR 18 (MED23)
• Mental retardation, AR 2 (CRBN)
• Mental retardation, AR 27 (LINS1)
• Mental retardation, AR 3 (CC2D1A)
• Mental retardation, AR 34, with variant lissencephaly (CRADD)
• Mental retardation, AR 36 (ADAT3)
• Mental retardation, AR 37 (ANK3)
• Mental retardation, AR 38 (HERC2)
• Mental retardation, AR 39 (TTI2)
• Mental retardation, AR 40 (TAF2)
• Mental retardation, AR 41 (KPTN)
• Mental retardation, AR 43 (WASHC4)
• Mental retardation, AR 44 (METTL23)
• Mental retardation, AR 45 (FBXO31)
• Mental retardation, AR 46 (NDST1)
• Mental retardation, AR 47 (FMN2)
• Mental retardation, AR 48 (SLC6A17)
• Mental retardation, AR 5 (NSUN2)
• Mental retardation, AR 51 (HNMT)
• Mental retardation, AR 52 (LMAN2L)
• Mental retardation, AR 53 (PIGG)
• Mental retardation, AR 56 (ZC3H14)
• Mental retardation, AR 57 (MBOAT7)
• Mental retardation, AR 58 (ELP2)
• Mental retardation, AR 6 (GRIK2)
• Mental retardation, AR 63 (CAMK2A)
• Mental retardation, AR 66 (C12orf4)
• Mental retardation, AR 68 (TRMT1)
• Mental retardation, AR 7 (TUSC3)
• Mental retardation, Ad 30 (ZMYND11)
• Mental retardation, XL 1/78 (IQSEC2)
• Mental retardation, XL 100 (KIF4A)
• Mental retardation, XL 101 (MID2)
• Mental retardation, XL 103 (KLHL15)
• Mental retardation, XL 104 (FRMPD4)
• Mental retardation, XL 105 (USP27X)
• Mental retardation, XL 106 (OGT)
• Mental retardation, XL 12/35 (THOC2)
• Mental retardation, XL 15 (CLCN4)
• Mental retardation, XL 19 (RPS6KA3)
• Mental retardation, XL 21/34 (IL1RAPL1)
• Mental retardation, XL 29 + others (ARX)
• Mental retardation, XL 3 [methylmalonic acidemia + homocysteinemia, cblX type] (HCFC1)
• Mental retardation, XL 30/47 (PAK3)
• Mental retardation, XL 41 (GDI1)
• Mental retardation, XL 49 (CLCN4)
• Mental retardation, XL 58 (TSPAN7)
• Mental retardation, XL 63 (ACSL4)
• Mental retardation, XL 72 (RAB39B)
• Mental retardation, XL 9/44 (FTSJ1)
• Mental retardation, XL 90 (DLG3)
• Mental retardation, XL 93 (BRWD3)
• Mental retardation, XL 96 (SYP)
• Mental retardation, XL 97 (ZNF711)
• Mental retardation, XL 98 (NEXMIF)
• Mental retardation, XL 99 (USP9X)
• Mental retardation, XL 99, syndromic, female-restricted (USP9X)
• Mental retardation, XL syndromic, Christianson type (SLC9A6)
• Mental retardation, XL syndromic, Lubs type (MECP2)
• Mental retardation, XL syndromic, Nascimento-type (UBE2A)
• Mental retardation, XL syndromic, Raymond type (ZDHHC9)
• Mental retardation, XL, Snyder-Robinson type (SMS)
• Mental retardation, XL, syndromic 13 (MECP2)
• Mental retardation, XL, syndromic 14 (UPF3B)
• Mental retardation, XL, syndromic 15 [Cabezas type] (CUL4B)
• Mental retardation, XL, syndromic 16 (FGD1)
• Mental retardation, XL, syndromic 3 (RPL10)
• Mental retardation, XL, syndromic 32 (CLIC2)
• Mental retardation, XL, syndromic 33 (TAF1)
• Mental retardation, XL, syndromic 5 (AP1S2)
• Mental retardation, XL, syndromic, Claes-Jensen type (KDM5C)
• Mental retardation, XL, syndromic, Hedera type (ATP6AP2)
• Mental retardation, XL, syndromic, Houge type (CNKSR2)
• Mental retardation, XL, syndromic, Turner type (HUWE1)
• Mental retardation, XL, with cerebellar hypoplasia + distinctive facial appearance (OPHN1)
• Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations (MEF2C)
• Mental retardation, with/-out nystagmus (CASK)
• Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
• Microcephaly with/-out chorioretinopathy, lymphedema or mental retardation (KIF11)
• Microphthalmia
• Microphthalmia, syndromic 12 (RARB)
• Microphthalmia, syndromic 3 (SOX2)
• Microphthalmia, syndromic 5 (OTX2)
• Microphthalmia, syndromic 6 (BMP4)
• Migraine, familial hemiplegic, 1 (CACNA1A)
• Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
• Mowat-Wilson syndrome (ZEB2)
• Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 10 (TMEM5)
• Myasthenic syndrome, congenital, 18 (SNAP25)
• Myhre syndrome (SMAD4)
• Myoclonic-atonic epilepsy (SLC6A1)
• Myoclonus, familial, 2 (SCN8A)
• Myoclonus, intractable, neonatal (KIF5A)
• Myotonic dystrophy 1 (DMPK)
• NESCAV syndrome (KIF1A)
• Neurodegeneration, childhood-onset, with brain atrophy (UBTF)
• Neurodevelopmental delay, growth delay, microcephaly, muscular hypotonia (NSD2)
• Neurodevelopmental disorder +- anomalies of the brain, eye or heart (RERE)
• Neurodevelopmental disorder +- early-onset generalized epilepsy (NBEA)
• Neurodevelopmental disorder +- hyperkinetic movements + seizures, AD (GRIN1)
• Neurodevelopmental disorder +- hyperkinetic movements + seizures, AR (GRIN1)
• Neurodevelopmental disorder +- variable brain abnormalities (MAPK8IP3)
• Neurodevelopmental disorder with absent language + variable seizures (WASF1)
• Neurodevelopmental disorder with dysmorphic facies + distal limb anomalies (BPTF)
• Neurodevelopmental disorder with dysmorphic facies + distal skeletal anomalies (ZMIZ1)
• Neurodevelopmental disorder with hypotonia, autistic features +/- hyperkinetic moves (VAMP2)
• Neurodevelopmental disorder with hypotonia, impaired expressive language, with/-out seizures (DEAF1)
• Neurodevelopmental disorder with hypotonia, seizures + absent language (HECW2)
• Neurodevelopmental disorder with hypotonia, variable intellectual, behavioral abnormalities (POLR2A)
• Neurodevelopmental disorder with involuntary movements (GNAO1)
• Neurodevelopmental disorder with language impairment + behavioral abnormalities (GRIA2)
• Neurodevelopmental disorder with poor language + loss of hand skills (GABBR2)
• Neurodevelopmental disorder with regression, abnormal movements, loss of speech, seizures (IRF2BPL)
• Neurodevelopmental disorder with severe motor impairment + absent language (DHX30)
• Neurodevelopmental disorder with spastic diplegia + visual defects (CTNNB1)
• Neurodevelopmental disorder with structural brain anomalies + dysmorphic facies (RAC3)
• Neurodevelopmental disorder, ataxic gait, absent speech, decreased cortical white matter (RAB11B)
• Neurodevelopmental disorder, epilepsy, cataracts, feeding difficulties + delayed brain myel. (NACC1)
• Neurodevelopmental disorder, hypotonia, stereotypic hand movements, impaired language (MEF2C)
• Neurodevelopmental disorder, language delay +- structural brain abnormalities (PPP2CA)
• Neurodevelopmental disorder, movement abnormalities, abnormal gait, autistic features (ZSWIM6)
• Neurodevelopmental, jaw, eye + digital syndrome (FBXW11)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis-Noonan syndrome (NF1)
• Neuroocular syndrome (PRR12)
• Neurooculocardiogenitourinary syndrome (WDR37)
• Nicolaides-Baraitser syndrome (SMARCA2)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 10 (LZTR1)
• Noonan syndrome 2 (LZTR1)
• Noonan syndrome 3 (KRAS)
• Noonan syndrome 4 (SOS1)
• Noonan syndrome 5 (RAF1)
• Noonan syndrome 6 (NRAS)
• Noonan syndrome 7 (BRAF)
• Noonan syndrome 8 (RIT1)
• Noonan syndrome 9 (SOS2)
• Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
• Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
• Noonan syndrome-like with loose anagen hair 1 (SHOC2)
• O'Donnell-Luria-Rodan syndrome (KMT2E)
• Obesity, hyperphagia + developmental delay (NTRK2)
• Ohdo syndrome, XL (MED12)
• Okur-Chung neurodevelopmental syndrome (CSNK2A1)
• Opitz GBBB syndrome, type II (SPECC1L)
• Opitz-Kaveggia syndrome (MED12)
• Optic nerve hypoplasia and abnormalities of the central nervous system (SOX2)
• PCWH syndrome (SOX10)
• Pallister-Hall syndrome (GLI3)
• Partington syndrome (ARX)
• Pierpont syndrome (TBL1XR1)
• Pitt-Hopkins syndrome (TCF4)
• Pitt-Hopkins-like syndrome 2 (NRXN1)
• Poirier-Bienvenu neurodevelopmental syndrome (CSNK2B)
• Polydactyly, postaxial, types A1, B + preaxial, type IV (GLI3)
• Polyposis, juvenile intestinal (SMAD4)
• Premature aging syndrome, Penttinen type (PDGFRB)
• Primary aldosteronism, seizures + neurologic abnormalities (CACNA1D)
• Primrose syndrome (ZBTB20)
• Pseudohypoparathyroidism Ia + Ic (GNAS)
• Pseudopseudohypoparathyroidism (GNAS)
• Rafiq syndrome (MAN1B1)
• Rahman syndrome (HIST1H1E)
• Raynaud-Claes syndrome (CLCN4)
• Renpenning syndrome (PQBP1)
• Rett syndrome (MECP2)
• Rett syndrome, atypical (MECP2)
• Rett syndrome, congenital variant (FOXG1)
• Rett syndrome, preserved speech variant (MECP2)
• Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
• Robinow syndrome, AR (ROR2)
• Rubinstein-Taybi syndrome 1 (CREBBP)
• Rubinstein-Taybi syndrome 2 (EP300)
• SBBYSS syndrome (KAT6B)
• Saethre-Chotzen syndrome with +- eyelid anomalies (TWIST1)
• Schaaf-Yang syndrome (MAGEL2)
• Schinzel-Giedion midface retraction syndrome (SETBP1)
• Schizencephaly (EMX2, SHH, SIX3)
• Schuurs-Hoeijmakers syndrome (PACS)
• Seizures, benign neonatal, 2 (KCNQ3)
• Septooptic dysplasia (HESX1)
• Shashi-Pena syndrome (ASXL2)
• Short stature, rhizomelic, with microcephaly, micrognathia + developmental delay (ARCN1)
• Shprintzen-Goldberg syndrome (SKI)
• Sifrim-Hitz-Weiss syndrome (CHD4)
• Silver spastic paraplegia syndrome (BSCL2)
• Single median maxillary central incisor (SHH)
• Singleton-Merten syndrome 1 (IFIH1)
• Skraban-Deardorff syndrome (WDR26)
• Smith-Kingsmore syndrome (MTOR)
• Smith-Magenis syndrome (RAI1)
• Snijders Blok-Campeau syndrome (CHD3)
• Snijders Blok-Fisher syndrome (POU3F3)
• Sotos syndrome 1 (NSD1)
• Sotos syndrome 2 (NFIX)
• Spastic paraplegia 10, AD (KIF5A)
• Spastic paraplegia 13, AD (HSPD1)
• Spastic paraplegia 30, AD + AR (KIF1A)
• Spastic paraplegia 3A, AD (ATL1)
• Spastic paraplegia 44, AR (GJC2)
• Spastic paraplegia 9A, AD (ALDH18A1)
• Spastic paraplegia 9B, AR (ALDH18A1)
• Spastic paraplegia, intellectual disability, nystagmus + obesity (KIDINS220)
• Speech-language disorder-1 (FOXP2)
• Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
• Spinocerebellar ataxia 13 (KCNC3)
• Spinocerebellar ataxia 21 (TMEM240)
• Spinocerebellar ataxia 42 (CACNA1G)
• Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (CACNA1G)
• Spinocerebellar ataxia 6 (CACNA1A)
• Stankiewicz-Isidor syndrome (PSMD12)
• Stocco dos Santos XL mental retardation syndrome (SHROOM)
• Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
• Subcortical laminar heterotopia (PAFAH1B1)
• Sweeney-Cox syndrome (TWIST1)
• Takenouchi-Kosaki syndrome (CDC42)
• Tatton-Brown-Rahman syndrome (DNMT3A)
• Teebi hypertelorism syndrome (SPECC1L)
• Temple-Baraitser syndrome (KCNH1)
• Tenorio syndrome (RNF125)
• Timothy syndrome (CACNA1C)
• Tonne-Kalscheuer syndrome (RLIM)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)
• Turnpenny-Fry syndrome (PCGF2)
• Tyrosinemia, type III (HPD)
• Van Esch-O'Driscoll syndrome (POLA1)
• Vasculopathy, retinal, with cerebral leukoencephalopathy + systemic manifestations (TREX1)
• Ventriculomegaly + arthrogryposis (KIDINS220)
• Verheij syndrome (PUF60)
• Ververi-Brady syndrome (QRICH1)
• Vissers-Bodmer syndrome (CNOT1)
• Vulto-van Silfout-de Vries syndrome (DEAF1)
• Waardenburg syndrome, type 2E, +- neurologic involvement (SOX10)
• Waisman syndrom (RAB39B)
• Weaver syndrome (EZH2)
• Weiss-Kruszka syndrome (ZNF462)
• White-Sutton syndrome (POGZ)
• Wieacker-Wolff syndrome (ZC4H2)
• Wieacker-Wolff syndrome, female-restricted (ZC4H2)
• Wiedemann-Steiner syndrome (KMT2A)
• Wilson-Turner syndrome (LAS1L)
• Witteveen-Kolk syndrome (SIN3A)
• Xia-Gibbs syndrome (AHDC1)
• ZTTK [Zhu-Tokita-Takenouchi-Kim] syndrome (SON)
• Zimmermann-Laband syndrome 1 (KCNH1)
• Zimmermann-Laband syndrome 2 (ATP6V1B2)
• coloboma + skeletal dysplasia syndrome (MAB21L2)