X-linked intellectual disability, Cabezas type

Orpha code: 85293OMIM code: 300354

Definicja

An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability (ID) with severe speech impairment, and short stature. Variable additional clinical features have been associated, including behavioral disturbances, gait abnormalities, tremor, seizures, hypogonadism, truncal obesity, unspecific facial dysmorphism, and small hands and feet.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Cabezas syndrome
Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Cabezasa
Kod ORPHA
85293
Kod OMIM
300354
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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