Phenotype #0000236343

Individual ID 00311080
Associated disease neuropathy, optic
Phenotype details Neurodevelopmental delay (HP:0012758); Behavioral abnormality (HP:0000708); Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Abnormality of optic chiasm morphology (HP:0025163); Hypoplasia of the corpus callosum (HP:0002079); Abnormal cortical gyration (HP:0002536); Delayed speech and language development (HP:0000750); Hyperactivity (HP:0000752); Abnormality of the cerebral cortex (HP:0002538); Optic atrophy (HP:0000648)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination 03y05m (3 years, 5 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 09:58:29 +02:00 (CEST)
Date last edited 2021-05-05 16:34:12 +02:00 (CEST)

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