AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome

Orpha code: 412069OMIM code: 615829

Definition

A rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.

Disease data
Classification

Malformation syndrome

Synonyms
Xia-Gibbs syndrome
Zespół Xia i Gibbsa
ORPHA code
412069
OMIM code
615829
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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