Phenotype #0000236610

Individual ID	00311362
Associated disease	neuropathy, optic
Phenotype details	Neurodevelopmental delay (HP:0012758); Intellectual disability, mild (HP:0001256); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Alacrima (HP:0000522); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Abnormality of brain morphology (HP:0012443); Infantile spasms (HP:0012469); Typical absence seizure (HP:0011147);
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Age/Examination	04y (4 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 11:45:01 +02:00 (CEST)
Date last edited	2021-05-05 16:34:12 +02:00 (CEST)