Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome

Orpha code: 529965OMIM code: 617682

Definition

A rare, syndromic intellectual disability characterized by developmental delay, speech apraxia, autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. Seizures or isolated EEG abnormalities may also be associated.

Disease data
Classification

Malformation syndrome

Synonyms
Pilarowski-Bjornsson syndrome
Zespół Pilarowskiegi i Bjornssona
ORPHA code
529965
OMIM code
617682
ICD10 code
-
ICD11 code
-

No additional description.

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