Phenotype #0000209153

Individual ID 00274207
Associated disease ID
Diagnosis/Initial Intellectual Disability
Diagnosis/Definite Intellectual Disability
Inheritance Isolated (sporadic)
Phenotype details Microcephaly HP:0000252; Seizures HP:0001250; Neurodevelopmental delay HP:0012758; Muscular hypotonia of the trunk HP:0008936; Limb hypertonia HP:0002509; Esodeviation HP:0020045; Ventriculomegaly HP:0002119; Dysplastic corpus callosum HP:0006989; Abnormal cortical gyration HP:0002536; Hypoplasia of the brainstem HP:0002365; brith normal weight and length but mild microcephaly; intellectual disability (HP:0001249); global developmental delay (HP:0001263); neurodevelopmental delay (HP:0012758); poor speech (HP:0002465)
Age/Examination 00y02m (2 months)
Age/Diagnosis 00y
Age/Onset 00y
Phenotype/Onset -
Protein -
Owner name Dimitra Ilektra Lerou
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Dimitra Ilektra Lerou
Date created 2019-12-24 19:10:10 +01:00 (CET)
Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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