Phenotype #0000236328

Individual ID 00311063
Associated disease neuropathy, optic
Phenotype details Caesarian section (HP:0011410); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Muscular hypotonia (HP:0001252); Joint laxity (HP:0001388); Strabismus (HP:0000486); Nystagmus (HP:0000639); Hypermetropia (HP:0000540); Optic atrophy (HP:0000648); Macular hyperpigmentation (HP:0011509); Conductive hearing impairment (HP:0000405); Chronic otitis media (HP:0000389); Attention deficit hyperactivity disorder (HP:0007018); Abnormality of visual evoked potentials (HP:0000649)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination 08y (8 years)
Age/Diagnosis -
Age/Onset ?
Phenotype/Onset -
Protein -
Owner name Benjamin Billiet
Database submission license No license selected
Created by Benjamin Billiet
Date created 2020-09-15 10:13:47 +02:00 (CEST)
Date last edited 2021-05-05 16:34:12 +02:00 (CEST)

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