Phenotype #0000302357

Individual ID 00410252
Associated disease SPDRS
Phenotype details global developmental delay (HP:0001263); involuntary movements (HP:0004305) (shaking head, flapping limbs); seizure (HP:0001250); hearing impairment (HP:0000365); visual impairment (HP:0000505); scoliosis (HP:0002650); feeding difficulties, irritability, poor eye contact, skin pigmentation; EEG 4y-multifocal spike-wave discharges, focal slow waves and spikes; 1m-vomit frequently (5y disappeared); 25y-severe intellectual disability
Diagnosis/Initial developmental delay
Inheritance Familial, autosomal recessive
Diagnosis/Definite SPDRS
Age/Examination 20y (20 years)
Age/Diagnosis -
Age/Onset 00y01m
Phenotype/Onset Irritability (HP:0000737)
Protein -
Owner name Shiena Watanabe
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Shiena Watanabe
Date created 2022-05-22 14:36:58 +02:00 (CEST)
Date last edited 2024-11-21 16:18:23 +01:00 (CET)

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