All individuals with variants in gene RALGAPA1

5 entries on 1 page. Showing entries 1 - 5.
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00281802 FamA PubMed: Wagner 2020, Journal: Wagner 2020 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Germany - - - - - NDD severely delayed motor development; no speech development; profound muscular hypotonia; poor head control; no spasticity; reduced upper limb tendon reflexes, reduced lower limb tendon reflexes; infantile spasms; MRI-brain focal thinning of corpus callosum, gray matter heterotopias; dry skin and hypohidrosis; bilateral cataract; normal heart; normal lungs; feeding difficulties, gastrostomy tube; bilateral vesicoureteric reflux grade II; recurrent fever/frequent viral infections; drop foot; craniofacial features thick eyebrows, deep-set eyes, short nasal bridge with anteverted nares, large mouth with prominent lower lip, protruding tongue; gingival hyperplasia 2 1 Johan den Dunnen
00281803 FamB PubMed: Wagner 2020, Journal: Wagner 2020 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Palestine - - - - - DKCA3 severely delayed motor development; no speech development; profound muscular hypotonia; poor head control; spasticity; reduced upper limb tendon reflexes, reduced lower limb tendon reflexes ; no seizures; MRI-brain focal thinning of corpus callosum, thin pituitary stalk, global brain atrophy; normal skin; no cataract; normal heart; tracheostomy; feeding difficulties, nasogastric tube; normal urinary tract; recurrent fever/frequent viral infections; normal limbs; bushy eyebrows, low anterior hairline; mild hepatomegaly 1 2 Johan den Dunnen
00281804 FamC PubMed: Wagner 2020, Journal: Wagner 2020 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Germany;Ireland - - - - - NDD severely delayed motor development; no speech development; profound muscular hypotonia; poor head control; no spasticity; reduced upper limb tendon reflexes, reduced lower limb tendon reflexes ; infantile spasms; MRI-brain focal thinning of corpus callosum, ectopic pituitary; normal skin; cortical vision impairment, no cataracts; normal heart; laryngomalacia, oxygen by nasal canula during sleep; feeding difficulties, gastrostomy tube; normal urinary tract; no recurrent fever/frequent viral infections; soft tissue syndactyly of fingers 3 and 4 bilaterally, partial; flat occiput, brachycephaly, high anterior hair line with frontal balding, tall forehead, full cheeks, medial eyebrow flare, left epicanthal fold, pointed superior helices ears, upturned nasal tip 1 1 Johan den Dunnen
00281805 FamD PubMed: Wagner 2020, Journal: Wagner 2020 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Saudi Arabia - - - - - NDD severely delayed motor development; no speech development; profound muscular hypotonia; poor head control; spasticity; increased upper limb/lower limb tendon reflexes ; infantile spasms; MRI-brain focal thinning of corpus callosum; normal skin; suspected cortical vision impairment (not confirmed); mild tricuspid valve regurgitation, mild mitral valve regurgitation; mild tricuspid valve regurgitation, mild mitral valve regurgitation; feeding difficulties, gastrostomy tube, gastro-esophageal reflux; vesicoureteric reflux, right grade III/IV and left grade III; recurrent fever/frequent viral infections; syndactyly of toes 2, 3, and 4; horizontal eyebrows, low-set ears, depressed nasal bridge, large mouth with prominent lips, slight retrognathia; gingival hyperplasia 1 1 Johan den Dunnen
00466405 - PubMed: Severa 2023 - M - France - - - - - NEDHRIT Motor delay * Exercise intolerance * Muscular hypotonia * Congenital myopathy 1 1 Camille Verebi
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