Phenotype #0000236613

Individual ID	00311365
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); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Inability to walk (HP:0002540); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Decreased lacrimation (HP:0000633); Cerebral visual impairment (HP:0100704); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Sleep disturbance (HP:0002360); Abnormality of temperature regulation (HP:0004370);
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Age/Examination	02y (2 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 14:28:52 +02:00 (CEST)
Date last edited	2021-05-05 16:34:12 +02:00 (CEST)

Global Variome shared LOVD