All individuals with variants in gene DISP1

3 entries on 1 page. Showing entries 1 - 3.
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AscendingIndividual ID     
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Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
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Owner     
00406738 Fam2Pat1 PubMed: Drissi 2022 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - HPE see paper; ..., no hydrocephalus, severe holoprosencephaly, cyclopia, proboscis, cleft lip, congenital heart disease 2 2 Johan den Dunnen
00406740 Fam2Pat2 PubMed: Drissi 2022 sister M yes Pakistan - - - - - HPE see paper; ..., hydrocephalus, severe holoprosencephaly, cyclopia, proboscis, cleft lip, congenital heart disease 2 1 Johan den Dunnen
00471997 KDM2B_13 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., brith 40w; moderate developmental delay; mild intellectual disability; moderate speech delay; no autism; hypotonia; no seizures; MRI normal; synophrys, arched eyebrows, narrow bifrontal diameter, small oral opening; pectus excavatum, contracture left 5th finger; pulmonic stenosis, atrioseptal defects (x2), birth patent ductus arteriosus/patent foramen ovale; normal kidneys; anteriorly placed anus; 3 hemangiomas, precocious puberty; birth poor suck; feeding difficulties (G-tube fed); overgrowth 1 1 Johan den Dunnen
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