X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

Orpha code: 2958OMIM code: 309610

Definition

An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.

Disease data
Classification

Malformation syndrome

Synonyms
Prieto-Badia-Mulas syndrome
Zespół Prieto, Badia i Mulasa
ORPHA code
2958
OMIM code
309610
ICD10 code
Q87.8
ICD11 code
LD90

No additional description.

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