Phenotype #0000228521

Individual ID 00301126
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details born at term; global developmental delay (HP:0001263); epilepsy (HP:0012847); hypotonia (HP:0001290); intellectual disability (HP:0001249); dysmorphic face(HP:0001999); scoliosis (HP:0002650); borderline microcephaly (HP:0000252); autism (HP:0000717), ataxia, short stature (HP:0004322); wide mouth (HP:0000154), widely spaced teeth (HP:0000687)
Age/Examination 25y (25 years)
Age/Diagnosis -
Age/Onset 00y04m
Phenotype/Onset postnatal microcephaly (HP:0005484)
Protein -
Owner name Joaquin De La Torre Vela
Database submission license No license selected
Created by Johan den Dunnen
Date created 2020-05-11 10:14:03 +02:00 (CEST)
Date last edited N/A

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