All individuals with variants in gene AP1G1

13 entries on 1 page. Showing entries 1 - 13.
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00375568 CPBO-PatIII5 PubMed: Usmani 2021 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Italy - - - - - NDD congenital agenesis of corpus callosum; severe intellectual disability; speech delay; developmental delay; high palate; severe hypotonia; no epilepsy; spasticity; aggressive; hypertelorism epicanthus; low-set, posteriorly rotated ears; normal bones; lumbar scoliosis; no limb defects 1 2 LOVD
00375569 PKMR328-PatIV2 PubMed: Usmani 2021 4-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - NDD no congenital anomalies; moderate intellectual disability; speech delay; developmental delay; prominent supraorbital ridges; hypotonia; epilepsy; spasticity; normal behavior; hyperemic conjunctivae; normal ears; pectus excavatum; no vertebral anomalies; joint laxity 1 5 LOVD
00375570 PKMR328-PatIVI PubMed: Usmani 2021 - M yes Pakistan - 21y - - - NDD 21y-died; no congenital anomalies; moderate intellectual disability; speech delay; developmental delay; severe hypotonia; epilepsy; spasticity; aggressive; no eyes anomalies; normal ears; not evaluated; no vertebral anomalies; joint laxity 1 1 LOVD
00375571 Fam3PatII1 PubMed: Usmani 2021 2-generation family, 1 affected, unaffected non-carrier parents F - Germany - - - - - NDD no congenital anomalies; mild/moderate intellectual disability; speech delay; developmental delay; normal face; moderate truncal hypotonia; epilepsy; no spasticity; aggressive, hyperactivity; no eyes anomalies; normal ears; normal bones; lumbar hyperlordosis; short fingers, feet syndactyly II-III bilaterally 1 1 LOVD
00375572 Fam4PatII1 PubMed: Usmani 2021 2-generation family, 1 affected, unaffected non-carrier parents F - Poland - 4y - - - NDD 4y-died; no congenital anomalies; moderate intellectual disability; speech delay; developmental delay; normal face; hypotonia; epilepsy; spasticity; aggressive, hyperactivity; strabismus; normal ears; normal bones; no vertebral anomalies; no limb defects 1 1 LOVD
00375573 Fam5PatII1 PubMed: Usmani 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - NDD no congenital anomalies; moderate intellectual disability; speech delay; developmental delay; eyelid hooding, long philtrum; hypotonia; single febrile seizure; no spasticity; autism spectrum disorder, self-stimulatory, self-injurious behavior; esotropia, anisometropia, amblyopia; normal ears; normal bones; no vertebral anomalies; mild 5th finger clinodactyly, flat feet 1 1 LOVD
00375574 Fam6PatII1 PubMed: Usmani 2021 2-generation family, 1 affected, unaffected non-carrier parents F - Netherlands - - - - - NDD congenital hearing loss; mild intellectual disability; speech delay; developmental delay; no obvious dysmorphic facila features; hypotonia from few months of age; no epilepsy; no spasticity; depression, anxiety, disinhibition, and compulsive behavior; no eyes anomalies; normal ears; normal bones; widely spaced toes 1 1 LOVD
00375575 Fam7PatII1 PubMed: Usmani 2021 2-generation family, 1 affected, unaffected non-carrier parents M - Netherlands - - - - - NDD no congenital anomalies; moderate intellectual disability; speech delay; developmental delay; frontal bossing, prominent forehead; severe hypotonia; no epilepsy; no spasticity; aggressive, autism; no eyes anomalies; ear tag right ear; normal bones; no vertebral anomalies; no limb defects, small hands and feet 1 1 LOVD
00375576 Fam8PatII1 PubMed: Usmani 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United States - 22d - - - NDD 22d-died 1 1 LOVD
00375577 Fam9PatII1 PubMed: Usmani 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - NDD congenital pectus excavatum; mild intellectual disability; speech delay; developmental delay; normal face; hypotonia; epilepsy; no spasticity; autism, hyperactivity, impulsivity, non-compliant; no eyes anomalies; normal ears; normal bones; no vertebral anomalies; long fingers and toes 1 1 LOVD
00375578 Fam10PatII1 PubMed: Usmani 2021 2-generation family, 1 affected, unaffected non-carrier parents M - Netherlands - - - - - NDD moderate, decreasing intellectual disability; speech delay; developmental delay; turricephaly; no hypotonia; no epilepsy; no spasticity; aggressive; pectus carinatum; thoracal kyphosis; long extremities 1 1 LOVD
00375579 Fam11PatII1 PubMed: Usmani 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - NDD intellectual disability; speech delay; developmental delay; behavioral problems 1 1 LOVD
00453315 OCD175901 PubMed: Cappi 2016 analysis 20 sporadic obsessive-compulsive disorder cases - - Brazil - - - - - ? - 1 1 Johan den Dunnen
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