Phenotype #0000236345

Individual ID 00311089
Associated disease neuropathy, optic
Phenotype details Neurodevelopmental delay (HP:0012758); Behavioral abnormality (HP:0000708); Muscular hypotonia (HP:0001252); Stereotypy (HP:0000733); Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Hypermetropia (HP:0000540); Nystagmus (HP:0000639); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of optic chiasm morphology (HP:0025163); Abnormal cortical gyration (HP:0002536)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination 06y07m (6 years, 7 months)
Age/Diagnosis -
Age/Onset ?
Phenotype/Onset -
Protein -
Owner name Benjamin Billiet
Database submission license No license selected
Created by Benjamin Billiet
Date created 2020-09-17 10:11:01 +02:00 (CEST)
Date last edited 2021-05-05 16:34:12 +02:00 (CEST)

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