All individuals with variants in gene KIAA1715

12 entries on 1 page. Showing entries 1 - 12.
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Owner     
00412451 - - - - - - - - - - - NEDEHCC - 1 1 Andrea Accogli
00412510 - - - - no - - - - - - NEDEHCC - 1 1 Andrea Accogli
00412511 - - - - yes - - - - - - NEDEHCC - 1 1 Andrea Accogli
00412512 - - - - yes - - - - - - NEDEHCC - 1 1 Andrea Accogli
00412513 - - - - yes - - - - - - NEDEHCC - 1 1 Andrea Accogli
00412514 - - - - yes - - - - - - NEDEHCC - 1 1 Andrea Accogli
00412515 - - - - yes - - - - - - NEDEHCC - 1 1 Andrea Accogli
00427086 - - - - yes - - - - - - ? - 1 1 Andrea Accogli
00427088 FamAPatIII1 PubMed: Breuss 2018 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Egypt - - - - - NDD see paper; ..., delayed gross motor skills, delayed fine motor skills, no speech, delayed social skills, progressive regression; severe intellectual disability, no speech, autistic features, very limited social interaction, hyperactivity, inattention, dementia; rigidity, drooling; no cerebellar deficits; hypertonia, only crawling; muscle tone hypotonia with rigidity; reflexes present; sensory normal; not walking; 2y-onset seizures, every several days, myoclonic (most frequent), tonic, extension spasms; treatment valproate, levetiracetum, clonazepam; MRI brain hypoplasia corpus callosum, normal cerebellum 1 2 Johan den Dunnen
00427089 FamAPatIII2 PubMed: Breuss 2018 brother M yes Egypt - - - - - NDD see paper; ..., delayed gross motor skills, delayed fine motor skills, delayed speech, delayed social skills, regression stationary; intellectual disability, a few unclear words, mild autistic features, hyperactive, inattention, minimal aggressiveness; no cerebellar deficits; ambulatory, wide based gait; muscle tone mild hypotonia; reflexes present; sensory normal 2y-onset seizures, controlled, myoclonic; treatment valproate, levetiracetum,; MRI brain hypoplasia corpus callosum, cerebellum mild vermian hypoplasia 1 1 Johan den Dunnen
00427090 FamBPatIII2 PubMed: Breuss 2018 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - NDD see paper; ..., significantly delayed gross motor skills, significantly delayed fine motor skills, significantly delayed speech, significantly delayed social skills, progressive regression (bed-ridden); vegetative stte; rigidity, flaccid, ataxia; 1y-onset seizures, generalized tonic clonic, treatment valproate, carbamazepine; MRI brain hypoplasia corpus callosum, cerebellum atrophy 1 1 Johan den Dunnen
00427099 patient PubMed: Türkyılmaz 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - - ataxia see paper 1 1 Johan den Dunnen
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