Phenotype #0000346394

Individual ID 00457944
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite SPDRS
Inheritance Familial, autosomal recessive
Phenotype details intellectual disability (3/3), developmental delay (3/3), no neurodevelopmental deterioration, no speech (3/3), choreoathetosis (3/3), mixed tone, able to walk (1/3), no epilepsy, EEG abnormal (3/3), sensorineural hearing impairment (3/3), vision impairment (3/3), microcephaly (3/3), failure to thrive (3/3), gastrostomy tube dependence (2/3), feeds by mouth (2/3), skin pigment changes (2/3), severe atopic dermatitis/ichthyosis (2/3), sleep disturbance (2/3), self-injurious behavior (3/3),; normal prenatal/birth history (3/3), normal birth parameters
Age/Examination 21y/13y/7y
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 2024-11-21 16:43:03 +01:00 (CET)
Date last edited N/A

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