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)

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