Phenotype #0000166541

Individual ID 00218092
Associated disease DD
Phenotype details Profound global developmental delay (HP:0012736), Poor speech (HP:0002465), Abnormality of facial skeleton (HP:0011821), Growth abnormality (HP:0001507), biochemical Adenylosuccinase deficiency
Diagnosis/Initial 9y
Inheritance Familial, autosomal recessive
Diagnosis/Definite 15y
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2019-01-22 10:33:29 +01:00 (CET)
Date last edited 2019-01-22 13:19:42 +01:00 (CET)

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