Syndromic X-linked intellectual disability 7

Orpha code: 85274OMIM code: 300218

Definicja

A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
MRXS7
MRXS7
Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Ahmada
X-linked intellectual disability, Ahmad type
Kod ORPHA
85274
Kod OMIM
300218
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl