Phenotype #0000078998

Individual ID 00100785
Associated disease EMPF
Phenotype details see paper; microcephaly (HP:0000252), abnormal brain development (HP:0012443), optic atrophy (HP:0000648), optic hypoplasia (HP:0000609), persistent lactic acidemia (HP:0003128), mildly elevated plasma concentration of very-long-chain fatty acids (HP:0003455), ...
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 00y00m00d
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 2017-03-10 10:35:16 +01:00 (CET)
Date last edited 2017-03-10 10:41:04 +01:00 (CET)

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