Phenotype #0000051208

Individual ID 00065102
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details mild macrocephaly (HP:0004482), no unusual facial features (-HP:0000271), no seizures (-HP:0001250), reduced reflexes, MRI normal, no ventilator dependence (-HP:0004887), independent walking; ventriculomegaly (HP:0010952); moderate intellectual disability (HP:0002342); severe global developmental delay (HP:0011344); motor delay (HP:0001270); poor speech (HP:0002465)
Age/Examination 04y (4 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Jamie Zeegers
Database submission license No license selected
Created by Jamie Zeegers
Date created 2016-05-17 15:00:41 +02:00 (CEST)
Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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