Phenotype #0000308360

Individual ID 00416850
Associated disease MICPCH
Phenotype details brain magnetic resonance imaging: atrophy, mild enlarged ventricles on ct-scan; additional clinical featuresumbilical hernia, hip dysplasia, scoliosis, spasticity, feeding problems, severe intellectual disability, seizures, no speech, prominent upper incisors
Diagnosis/Initial -
Inheritance Familial, X-linked
Diagnosis/Definite Mental retardation and microcephaly with pontine and cerebellar hypoplasia [MIM 300749]
Age/Examination 22y (22 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth_Details -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-09-08 10:25:47 +02:00 (CEST)
Date last edited N/A

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