Phenotype #0000236618

Individual ID 00311370
Associated disease neuropathy, optic
Phenotype details Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Alacrima (HP:0000522); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Abnormality of temperature regulation (HP:0004370)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Unknown
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 2020-09-23 10:49:05 +02:00 (CEST)
Date last edited 2021-02-19 09:43:33 +01:00 (CET)

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