ADNP syndrome

Orpha code: 404448OMIM code: 615873

Definition

A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features.

Disease data
Classification

Malformation syndrome

Synonyms
ADNP-related syndromic intellectual disability-autism spectrum disorder
HVDAS
Helsmoortel-Van Der Aa Syndrome
ADNP-related syndromic intellectual disability-autism spectrum disorder
HVDAS
Helsmoortel-Van Der Aa Syndrome
ORPHA code
404448
OMIM code
615873
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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