Klinische FragestellungPränatale Akinesie/Hypokinesie, Differentialdiagnose

NGS +

Multiple Gelenkkontrakturen, Gesichtsanomalien, Lungenhypoplasie; gemeinsam ist verminderte fötale Aktivität

• Alias: Fetal akinesia deformation sequence
• Alias: Prenatal akiesia/hypokinesia
• Allelic: Barrett esophagus/esophageal adenocarcinoma (ASCC1)
• Allelic: CAP myopathy 2 (TPM2)
• Allelic: CHAND syndrome (RIPK4)
• Allelic: Cardiomyopathy, dilated, 1G (TTN)
• Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
• Allelic: Cockayne syndrome, type B (ERCC6)
• Allelic: Costello syndrome (HRAS)
• Allelic: De Sanctis-Cacchione syndrome (ERCC6)
• Allelic: Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
• Allelic: Erythroleukemia, familial, susceptibility to (ERBB3)
• Allelic: Fibrosis of extraocular muscles, congenital, 1 (KIF21A)
• Allelic: Fibrosis of extraocular muscles, congenital, 3B (KIF21A)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Intellectual developmental disorder, AD 56 (CLTC)
• Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
• Allelic: Malignant hyperthermia susceptibility 5 (CACNA1S)
• Allelic: Malouf syndrome (LMNA)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Nemaline myopathy 4, AD (TPM2)
• Allelic: Orofacial cleft 6 (IRF6)
• Allelic: Polyglucosan body disease, adult form (GBE1)
• Allelic: Premature ovarian failure 11 (ERCC6)
• Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
• Allelic: Thyrotoxic periodic paralysis, susceptibility to, 1 (CACNA1S)
• Allelic: Trichothiodystrophy 1, photosensitive (ERCC2)
• Allelic: UV-sensitive syndrome 1 (ERCC6)
• Allelic: Xeroderma pigmentosum, group D (ERCC2)
• Allelic: van der Woude syndrome (IRF6)
• Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
• Arthrogryposis [MONDO:0008779; panelapp] (KIF21A)
• Arthrogryposis [panelapp] (UTRN)
• Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (LGI4)
• Arthrogryposis multiplex congenita 2, neurogenic type (ERGIC1)
• Arthrogryposis multiplex congenita 6 (NEB)
• Arthrogryposis multiplex congenita [panelapp] (UNC50)
• Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
• Arthrogryposis, distal, type 1A (TPM2)
• Arthrogryposis, distal, type 1B (MYBPC1)
• Arthrogryposis, distal, type 2A [Freeman-Sheldon] (MYH3)
• Arthrogryposis, distal, type 2B1 (TNNI2)
• Arthrogryposis, distal, type 2B2 (TNNT3)
• Arthrogryposis, distal, type 2B3 [Sheldon-Hall] (MYH3)
• Arthrogryposis, distal, type 2B4 (TPM2)
• Arthrogryposis, distal, type 3 (PIEZO2)
• Arthrogryposis, distal, type 5 (PIEZO2)
• Arthrogryposis, distal, type 5D (ECEL1)
• Arthrogryposis, distal, with impaired proprioception + touch (PIEZO2)
• Arthrogryposis, renal dysfunction, and cholestasis 1 (VPS33B)
• Arthrogryposis, renal dysfunction, cholestasis 2 (VIPAS39)
• Cardiomyopathy, dilated, 1A (LMNA)
• Carney complex variant (MYH8)
• Central core disease (RYR1)
• Centronuclear myopathy 1 (DNM2)
• Centronuclear myopathy 2 (BIN1)
• Cerebro-oculo-facio-skeletal (COFS) syndrome (ERCC6)
• Cerebrooculofacioskeletal syndrome 1 (ERCC6)
• Cerebrooculofacioskeletal syndrome 2 (ERCC2)
• Cerebrooculofacioskeletal syndrome 4 (ERCC1)
• Charcot-Marie-Tooth disease, DI B (DNM2)
• Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
• Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Congenital arthrogryposis with anterior horn cell disease (GLE1)
• Congenital disorder of glycosylation, type Ij (DPAGT1)
• Congenital myopathy with excess of muscle spindles (HRAS)
• Contractures, pterygia + spondylocarpotarsal fusion syndrome 1A (MYH3)
• Contractures, pterygia + spondylocarpotarsal fusion syndrome 1B (MYH3)
• Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
• Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Escobar syndrome (CHRNG)
• Fetal akinesia [panelapp] (KIF21A)
• Fetal akinesia deformation sequence 1 (MUSK)
• Fetal akinesia deformation sequence 2 (RAPSN)
• Fetal akinesia deformation sequence 3 (DOK7)
• Fetal akinesia, growth restriction [panelapp] (CLTC)
• Glycogen storage disease IV (GBE1)
• Hyperkalemic periodic paralysis, type 2 (SCN4A)
• Hypokalemic periodic paralysis, type 1 (CACNA1S)
• Hypokalemic periodic paralysis, type 2 (SCN4A)
• Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
• King-Denborough syndrome (RYR1)
• Lethal congenital contracture syndrome 1 (GLE1)
• Lethal congenital contracture syndrome 2 (ERBB3)
• Lethal congenital contracture syndrome 3 (PIP5K1C)
• Lethal congenital contracture syndrome 4 (MYBPC1)
• Lethal congenital contracture syndrome 5 (DNM2)
• Lethal congenital contracture syndrome 6 (ZBTB42)
• Lethal congenital contracture syndrome 7 (CNTNAP1)
• Lethal congenital contracture syndrome 8 (ADCY6)
• Lethal congenital contracture syndrome 9 (ADGRG6)
• Marden-Walker syndrome (PIEZO2)
• Minicore myopathy with external ophthalmoplegia (RYR1)
• Multiple pterygium syndrome, lethal type (CHRNA1, CHRND)
• Multiple pterygium syndrome, lethal type (CHRNG)
• Muscular dystrophy, congenital (LMNA)
• Muscular dystrophy, congenital, Davignon-Chauveau type (TRIP4)
• Muscular dystrophy, limb-girdle, AR (TTN)
• Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 4 (FKTN)
• Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy (cong. with/-out mental retardation), type B, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy (cong. without mental retardation), type B, 4 (FKTN)
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (FKTN)
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (FKRP)
• Myasthenic syndrome, congenital, 10 (DOK7)
• Myasthenic syndrome, congenital, 11, ass. w. acetylcholine receptor deficiency (RAPSN)
• Myasthenic syndrome, congenital, 13, with tubular aggregates (DPAGT1)
• Myasthenic syndrome, congenital, 16 (SCN4A)
• Myasthenic syndrome, congenital, 1A, slow-channel (CHRNA1)
• Myasthenic syndrome, congenital, 1B, fast-channel (CHRNA1)
• Myasthenic syndrome, congenital, 21, presynaptic (SLC18A3)
• Myasthenic syndrome, congenital, 3A, slow-channel (CHRND)
• Myasthenic syndrome, congenital, 3B, fast-channel (CHRND)
• Myasthenic syndrome, congenital, 3C, ass. w. acetylcholine receptor deficiency (CHRND)
• Myasthenic syndrome, congenital, 9, ass. w. acetylcholine receptor deficiency (MUSK)
• Myopathy, XL, with excessive autophagy (VMA21)
• Myopathy, actin, congenital, with cores (ACTA1)
• Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
• Myopathy, centronuclear, XL (MTM1)
• Myopathy, cong., diaphragmatic defects, respiratory insufficiency, dysmorphic face (MYOD1)
• Myopathy, congenital, Compton-North (CNTN1)
• Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
• Myopathy, congenital, with tremor (MYBPC1)
• Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Myopathy, scapulohumeroperoneal (ACTA1)
• Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
• Myotonic dystrophy 1 (DMPK_CTG)
• Nemaline myopathy 10 (LMOD3)
• Nemaline myopathy 2, AR (NEB)
• Nemaline myopathy 3, AD/AR (ACTA1)
• Nemaline myopathy 8, AR (KLHL40)
• Nemaline myopathy 9 (KLHL41)
• Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
• Paramyotonia congenita (SCN4A)
• Pena Shokeir I/II syndromes
• Popliteal pterygium syndrome 1 (IRF6)
• Popliteal pterygium syndrome, Bartsocas-Papas type (RIPK4)
• Restrictive dermopathy 2 (LMNA)
• Salih myopathy (TTN)
• Schaaf-Yang syndrome (MAGEL2)
• Spinal muscular atrophy with congenital bone fractures 1 (TRIP4)
• Spinal muscular atrophy with congenital bone fractures 2 (ASCC1)
• Spinal muscular atrophy, XL 2, infantile (UBA1)
• Spinal muscular atrophy, lower extremity-predominant, 2A + 2B, AD (BICD2)
• Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
• Tibial muscular dystrophy, tardive (TTN)
• Trismus-pseudocamptodactyly syndrome (MYH8)
• Visceral neuropathy, familial, 1, AR (ERBB3)
• Wieacker-Wolff syndrome (ZC4H2)
• Wieacker-Wolff syndrome, female-restricted (ZC4H2)