Phenotype #0000203137

Individual ID 00265340
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; no self-injury/hand-biting; no bruxism; hypotonia in infancy; ambulatory; MRI brain abnormalities; seizures; no microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms
Age/Examination 3y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Caroline Dias
Database submission license No license selected
Created by Caroline Dias
Date created 2019-09-20 21:58:44 +02:00 (CEST)
Date last edited 2019-12-07 10:30:40 +01:00 (CET)

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