Phenotype #0000236326

Individual ID	00311061
Associated disease	neuropathy, optic
Phenotype details	Muscular hypotonia (HP:0001252); Neonatal breathing dysregulation (HP:0002790); Cyanosis (HP:0000961); Poor suck (HP:0002033); Dysphagia (HP:0002015); Delayed ability to walk (HP:0031936); Absent speech (HP:0001344); Narrow palpebral fissure (HP:0045025); Large forehead (HP:0002003); Frontal balding (HP:0002292); Decreased muscle mass (HP:0003199); Limb hypertonia (HP:0002509); Dysmetria (HP:0001310); Dysdiadochokinesis (HP:0002075); Impaired tandem gait (HP:0031629); Optic atrophy (HP:0000648); Clonic seizure (HP:0020221); Dysgyria (HP:0032398); Dysgenesis of the hippocampus (HP:0025101); Abnormality of lateral ventricle (HP:0030047)
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Age/Examination	43y (43 years)
Age/Diagnosis	-
Age/Onset	00y00m01d
Phenotype/Onset	-
Protein	-
Owner name	Benjamin Billiet
Database submission license	No license selected
Created by	Benjamin Billiet
Date created	2020-09-15 09:56:56 +02:00 (CEST)
Date last edited	2021-05-05 16:34:12 +02:00 (CEST)