X-linked intellectual disability, Cabezas type

Orpha code: 85293OMIM code: 300354

Definition

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
Classification

Malformation syndrome

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

No additional description.

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