Phenotype #0000231035

Individual ID 00303977
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, X-linked recessive
Phenotype details Tremor (HP:0002322);Global developmental delay (HP:0001263); Intellectual disability (HP:0001249); Abnormal corpus callosum (HP:0001273); Ventriculomegaly (HP:0002119); Macrocephaly (HP:0000256); Dysarthria (HP:0001260); Progressive spastic paraparesis (HP:0007199); Brain MRI with abnormal periventricular T2 intensity (HP:0002518); Ventriculomegaly (HP:0002119)
Age/Examination -
Age/Diagnosis -
Age/Onset 02y
Phenotype/Onset -
Protein DDX3X
Owner name Joaquin De La Torre Vela
Database submission license No license selected
Created by Joaquin De La Torre Vela
Date created 2020-06-22 16:34:59 +02:00 (CEST)
Date last edited 2020-06-24 13:38:06 +02:00 (CEST)

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