Phenotype #0000236608

Individual ID 00311360
Associated disease neuropathy, optic
Phenotype details Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Absent speech (HP:0001344); Motor delay (HP:0001270); Inability to walk (HP:0002540); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Cerebral visual impairment (HP:0100704); Muscular hypotonia (HP:0001252); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Hypoplasia of the corpus callosum (HP:0002079); Infantile spasms (HP:0012469); Short stature (HP:0004322); Autistic behavior (HP:0000729); Hearing abnormality (HP:0000364)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset ?
Phenotype/Onset -
Protein -
Owner name Benjamin Billiet
Database submission license No license selected
Created by Benjamin Billiet
Date created 2020-09-22 11:11:38 +02:00 (CEST)
Date last edited 2021-05-05 16:34:12 +02:00 (CEST)

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