Phenotype #0000207622

Individual ID 00269831
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details see paper; ... borderline microcephaly (-2.5 SD 28y), signs of cerebral palsy, no speech, nonambulant; focal seizures; progressive brain atrophy
Age/Examination 28y (28 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-12-07 13:20:49 +01:00 (CET)
Date last edited 2019-12-07 14:25:36 +01:00 (CET)

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