Phenotype #0000124184

Individual ID 00151815
Associated disease DD
Phenotype details Hypotonia, early HP:0008947; spasticity (HP:0001257); Seizures (HP:0001250); Hearing impairment (HP:0000365);
Blindness (HP:0000618)
Diagnosis/Initial encephalopathy with undetermined etiology; progressive hypomyelinating leukodystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination ?
Age/Diagnosis 05y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Rafał Płoski
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Rafał Płoski
Date created 2018-01-25 16:29:15 +01:00 (CET)
Date last edited 2018-01-26 11:08:33 +01:00 (CET)

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