Phenotype #0000051400

Individual ID 00065257
Associated disease IE
Phenotype details Autosomal-Recessive Severe Infantile Encephalopathy; cachexia (HP:0004326), severe muscular hypotonia (HP:0001252), Microcephaly (HP:0000252), no seizures (-HP:0001250), minor abnormality of the face (HP:0000271), Global developmental delay (HP:0001263)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 02y (2 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Pieter Klap
Database submission license No license selected
Created by Johan den Dunnen
Date created 2016-05-26 16:28:24 +02:00 (CEST)
Date last edited N/A

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