All individuals with variants in gene NRCAM

10 entries on 1 page. Showing entries 1 - 10.
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00402898 Fam;Pat1 PubMed: Kurolap 2017, PubMed: Kurolap 2022 multi-generation family, 1 NDD affected, unaffected heterozygous carrier parents M yes Israel Muslim Arab - - - - CHAPLE, NDD polyhydramnios; bi-temporal narrowing, plagiocephaly, bushy eyebrows with medial flaring, long eyelashes, depressed nasal bridge, cupid bowed lips, micrognathia; severe global developmental delay; self-injurious behavior; weight -2.4 SD, height -2.5 SD; microcephaly (OFC -3.5 SD); axial hypotonia, mild motor-sensory demyelinating polyneuropathy; MRI brain hydrocephalus, thin corpus callosum, partially shifted vermis; optic atrophy, abnormal visual-evoked potential, exotropia; abnormal brain-stem-evoked response auditory; congenital hip dysplasia, severe scoliosis, pes cavus, tapering fingers; oxygen supplementation, gastrostomy feeding, cryptorchidism, CD55-deficiency, see paper; ..., protein-losing enteropathy, hypercoagulopathy 1 1 Johan den Dunnen
00402899 Pat2 PubMed: Kurolap 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Israel Muslim Arab 1y9m - - - NDD 21m-deceased; intrauterine growth restriction; round facies, infra-lateral periorbital fullness, mild synophrys, deeply grooved philtrum, tented mouth, vaulted palate, micrognathia; severe global developmental delay; normal growth; microcephaly OFC (-2.6 SD); axial and peripheral hypotonia, decreased deep tendon reflexes, laryngomalacia; MRI brain normal; mild hyperopia; mild hearing loss; oxygen supplementation, gastrostomy feeding, severe gastresophageal reflux disease 1 1 Johan den Dunnen
00402900 Pat3 PubMed: Kurolap 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States Europe;China - - - - NDD no perinatal findings; coarse facies, bushy eyebrows, elongated face, hypertelorism, upslanting palpebral fissures, flat nasal bridge, small nose, micrognathia; severe intellectual disability, autism spectrum disorder; irritability, self-injurious behavior; weight -2.32 SD, height -2.75 SD; microcephaly (OFC -3.09 SD); hypertonia of all extremities, decreased muscle bulk, ataxia, abnormal EEG w/o apparent seizures; MRI brain bilateral periventricular leukomalacia, partially empty sella, subependymal nodular gray matter heterotopia, bil hypo-/delayed myelination, hypoplastic pituitary gland; bilateral retinal detachment, cataract; severe scoliosis, left acetabulum dysplasia, bil hip dysplasia, bilateral coxa valga, pes planus; bilateral cryptorchidism, two large hypopigmented macules 2 1 Johan den Dunnen
00402901 Pat4 PubMed: Kurolap 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States Amish - - - - NDD no perinatal findings; tented upper lip, prominent cheeks; global developmental delay; anxiety, irritability, aggression; normal growth; OFC normal; hypotonia, ataxia; MRI brain normal; mild myopia with astigmatism, optic cupping; abnormal brain-stem-evoked response auditory; pes planus 2 1 Johan den Dunnen
00402902 Pat5 PubMed: Kurolap 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Australia Europe - - - - NDD premature membrane rupture; no dysmorphism; global developmental delay; normal weight; severe hypertonia, spastic quadriplegic cerebral palsy, prominent jaw jerk; MRI brain bilateral periventricular leukomalacia with reduced white matter volume, thinned corpus callosum and elements of delayed myelination; strabismus with accommodative/alternating esotropia; no hearing loss; hip dysplasia, subluxing hips; 2 1 Johan den Dunnen
00402903 FamPat6a PubMed: Kurolap 2022 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Israel Jewish;Libya - - - - NDD no perinatal findings; intellectual disability, motor delay; spastic-dystonic paraplegic cerebral palsy; MRI brain ventriculomegaly, colpocephaly, elongation of the left Sylvian fissure to the periventricular white matter; precocious puberty, 3y-leukemia 1 2 Johan den Dunnen
00402904 FamPat6b PubMed: Kurolap 2022 brother M yes Israel Jewish;Libya - - - - NDD no perinatal findings; intellectual disability, motor delay; spastic-dystonic paraplegic cerebral palsy, 5y-epilepsy; MRI brain mild ventriculomegaly; scoliosis 1 1 Johan den Dunnen
00402905 Pat7 PubMed: Kurolap 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Canada Europe/Asia;America-N - - - - NDD polyhydramnios; mildly hypotonic facies, posteriorly rotated ears, small chin, high arched palate; gross developmental delay, fine motor delays (improved); normal growth; OFC normal; distal arthrogryposis (improved), axial hypotonia, non-specific myopathy, tracheomalacia, vocal cord paralysis (improved); MRI brain normal; ophthalmology normal; no hearing loss; bilateral hip dislocation; oxygen supplementation and tracheostomy (resolved), cryptorchidism, gastrostomy feeding (improved), constipation 2 1 Johan den Dunnen
00402906 FamPat8a PubMed: Kurolap 2022 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Turkey Turkey - - - - NDD no perinatal findings; no dysmorphism; no developmental delay; normal behavior; normal growth; motor neuropathy with secondary myopathic involvement; MRI brain arachnoid cyst of the posterior fossa; cataract; no hearing loss; severe scoliosis, pes cavus, hammer toes; CPKemia 1 2 Johan den Dunnen
00402907 FamPat8b PubMed: Kurolap 2022 brother M yes Turkey Turkey - - - - NDD no perinatal findings; no dysmorphism; no developmental delay; normal behavior; normal growth; motor neuropathy with secondary myopathic involvement; ophthalmology normal; no hearing loss; severe scoliosis, pes cavus, hammer toes; CPKemia 1 1 Johan den Dunnen
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