Phenotype #0000207677

Individual ID 00269881
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Global developmental delay (HP:0001263); Short stature (HP:0004322); Developmental regression (HP:0002376); Progressive spastic paraplegia (HP:0007020); Autistic behavior (HP:0000729); Stereotypy (HP:0000733); Pain insensitivity (HP:0007021); Reduced number of teeth (HP:0009804); Contractures of the large joints (HP:0005781); Cerebellar atrophy (HP:0001272)
Inheritance Unknown
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name IMGAG
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by IMGAG
Date created 2019-12-10 12:31:29 +01:00 (CET)
Date last edited 2020-04-01 13:57:49 +02:00 (CEST)

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