Klinische FragestellungSifrim-Hitz-Weiss-Syndrom, Differentialdiagnose

NGS +

• Alias: CHD4 neurodevelopmental disorder
• Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
• Allelic: Exudative vitreoretinopathy 7 (CTNNB1)
• Allelic: Meningioma, familial, susceptibility to (SMARCE1)
• Allelic: Mental retardation, AR 63 (CAMK2A)
• Allelic: Myoclonus, familial, 2 (SCN8A)
• Allelic: Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
• Allelic: Schwannomatosis-1, susceptibility to (SMARCB1)
• Allelic: Seizures, benign familial infantile, 5 (SCN8A)
• Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
• Arboleda-Tham syndrome (KAT6A)
• Baker-Gordon syndrome (SYT1)
• Coffin-Siris syndrome 1 (ARID1B)
• 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)
• Congenital disorder of glycosylation, type 1aa (NUS1)
• Developmental + epileptic encephalopathy 13 (SCN8A)
• Developmental + epileptic encephalopathy 27 (GRIN2B)
• Developmental + epileptic encephalopathy 33 (EEF1A2)
• Developmental delay with/-out intellectual impairment or behavioral abnormalities (TAOK1)
• Dias-Logan syndrome (BCL11A)
• Focal segmental glomerulosclerosis + neurodevelopmental syndrome (TRIM8)
• GAND syndrome (GATAD2B)
• Global developmental delay with/-out impaired intellectual development (CUX1)
• Global developmental delay, ID, autism [panelapp] (CSDE1)
• Global developmental delay, ID, autism, behavioral abnormality [panelapp] (BRSK2)
• Helsmoortel-van der Aa syndrome (ADNP)
• Impaired intellectual development, distinctive facial features with/-out cardiac defects (MED13L)
• 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/-out epilepsy or cerebellar ataxia (RORA)
• Intellectual developmental disorder, AD 11 (EPB41L1)
• Intellectual developmental disorder, AD 26 (AUTS2)
• Intellectual developmental disorder, AD 42 (GNB1)
• 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, AD 65 (KDM4B)
• Kleefstra syndrome 1 (EHMT1)
• Koolen-De Vries syndrome (KANSL1)
• Mental retardation with language impairment with/-out autistic features (FOXP1)
• Mental retardation, AD 1 (MBD5)
• Mental retardation, AD 10 (CACNG2)
• 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 30 (ZMYND11)
• Mental retardation, AD 33 (DPP6)
• Mental retardation, AD 34 (CERT1 syn. 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 43 (HIVEP2)
• Mental retardation, AD 45 (CIC)
• Mental retardation, AD 46 (KCNQ5)
• Mental retardation, AD 47 (STAG1)
• Mental retardation, AD 48 (RAC1)
• Mental retardation, AD 49 (TRIP12)
• Mental retardation, AD 5 (SYNGAP1)
• Mental retardation, AD 51 (KMT5B)
• Mental retardation, AD 52 (ASH1L)
• Mental retardation, AD 53 (CAMK2A)
• Mental retardation, AD 54 (CAMK2B)
• Mental retardation, AD 55, with seizures (NUS1)
• 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)
• Neurodevelopmental disorder with hypotonia, impaired expressive language, +/- seizures (DEAF1)
• Neurodevelopmental disorder with spastic diplegia + visual defects (CTNNB1)
• Neurodevelopmental disorder with/-out early-onset generalized epilepsy (NBEA)
• Neurodevelopmental disorder with/-out seizures + gait abnormalities (GRIA4)
• Neurodevelopmental disorder, neonatal respiratory insufficiency, hypotonia, feeding diffic. (PURA)
• Pierpont syndrome (TBL1XR1)
• Poirier-Bienvenu neurodevelopmental syndrome (CSNK2B)
• Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
• Schinzel-Giedion midface retraction syndrome (SETBP1)
• Schuurs-Hoeijmakers syndrome (PACS1)
• Vulto-van Silfout-de Vries syndrome (DEAF1)
• White-Sutton syndrome (POGZ)