Phenotype #0000236341

Individual ID 00311078
Associated disease neuropathy, optic
Phenotype details Neurodevelopmental delay (HP:0012758); Behavioral abnormality (HP:0000708); Muscular hypotonia (HP:0001252); Delayed speech and language development (HP:0000750); Seizure (HP:0001250); Precocious puberty (HP:0000826); Intellectual disability (HP:0001249); Stereotypy (HP:0000733); Attention deficit hyperactivity disorder (HP:0007018); Strabismus (HP:0000486); Reduced visual acuity (HP:0007663); Optic atrophy (HP:0000648); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of optic chiasm morphology (HP:0025163); Cerebellar vermis atrophy (HP:0006855); Gray matter heterotopia (HP:0002282); Abnormal cortical gyration (HP:0002536)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination 05y10m (5 years, 10 months)
Age/Diagnosis -
Age/Onset ?
Phenotype/Onset -
Protein -
Owner name Benjamin Billiet
Database submission license No license selected
Created by Benjamin Billiet
Date created 2020-09-16 09:37:06 +02:00 (CEST)
Date last edited 2021-05-05 16:34:12 +02:00 (CEST)

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