Phenotype #0000229687

Individual ID 00302605
Associated disease ?
Diagnosis/Initial developmental delay
Diagnosis/Definite -
Phenotype details severe ID (HP:0010864), microcephaly (HP:0011451), hypotonia (HP:0001290), delayed motor milestones (HP:0001270), no speech (HP:0001344), mild kyphosis (HP:0002808), thin upper lip (HP:0000219), curly hair (HP:000212), high arched palate (HP:0002705); 2y-severe epilepsy resulting in roughly four tonic (HP:0010818) and two myoclonic (HP:0002123) seizures per day with cyanosis (HP:0000961) now controlled with antiepileptic medications; severe developmental brain abnormalities including abnormal gyri (HP:0009879), dilated lateral ventricles (HP:0002119), thin corpus callosum (HP:0002079), central atrophy (HP:0002506), cortical atrophy (HP:0002120)
Inheritance Familial, autosomal recessive
Age/Examination 06y (6 years)
Age/Diagnosis -
Age/Onset 00y00m01d
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2020-05-26 13:47:31 +02:00 (CEST)
Date last edited 2021-03-25 09:52:06 +01:00 (CET)

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