All individuals with variants in gene CCDC82

3 entries on 1 page. Showing entries 1 - 3.
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00133232 VH108C - - M - Viet Nam - - - - - HCAD - 1 1 Xuehan Zhuang
00318033 PKMR206 PubMed: Riazuddin 2017 - - yes Pakistan Siraiki - - - - ID Delayed CMS, moderate ID, and speech delay. V:3, V:4 and V:5 have mild hypotonia and motor weakness. V:3 and V:4 have bulbous nose; V:5 has hypotelorism and V:1 is squint. 1 1 Johan den Dunnen
00401208 family PubMed: Naqvi 2022 5-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - MCPH see paper; ..., small heads, mild-moderate intellectual disability, short stature, narrow and oval shaped faces, receding foreheads, large ears, prominent nose; attention deficit behavior, speech apraxia; never attended school; affected males spend time wandering streets, no concept of money, not able to perform any conceptual work, recognize relatives, find their way home, sense of self-respect, comfortable with strangers and are friendly 1 1 Johan den Dunnen
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