Phenotype #0000236330

Individual ID 00311064
Associated disease neuropathy, optic
Phenotype details Ventouse delivery (HP:0011412); Neurodevelopmental delay (HP:0012758); Attention deficit hyperactivity disorder (HP:0007018); Strabismus (HP:0000486); Optic atrophy (HP:0000648); Hypermetropia (HP:0000540); Red-green dyschromatopsia (HP:0000642); Reduced visual acuity (HP:0007663); Visual field defect (HP:0001123); Downslanted palpebral fissures (HP:0000494); Joint hypermobility (HP:0001382); Clinodactyly of the 5th finger (HP:0004209); Broad foot (HP:0001769); Long hallux (HP:0001847); Short 4th toe (HP:0008093); Short 5th toe (HP:0011917); Hypoplasia of the fovea (HP:0007750); Nystagmus (HP:0000639)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal dominant
Age/Examination 35y (35 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 10:25:39 +02:00 (CEST)
Date last edited 2021-04-22 08:02:07 +02:00 (CEST)

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