Phenotype #0000034016

Individual ID 00039410
Associated disease BBSOAS
Phenotype details Epicanthus (HP:0000286); Anteverted nares (HP:0000463); Wide mouth (HP:0000154); Thick vermilion border (HP:0012471); Protruding ear (HP:0000411); Uplifted earlobe (HP:0009909); Tapered finger (HP:0001182); Prominent fingertip pads (HP:0001212); Slow-growing hair (HP:0002217); Muscular hypotonia (HP:0001252); Reduced visual acuity (HP:0007663); Strabismus (HP:0000486); Visual field defect (HP:0001123); Optic atrophy (HP:0000648); Abnormal timing of flash visual evoked potentials (HP:0030461); Neurodevelopmental delay (HP:0012758); Cerebral visual impairment (HP:0100704)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 02y (2 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Marc Ferre
Database submission license No license selected
Created by Johan den Dunnen
Date created 2015-06-16 20:06:56 +02:00 (CEST)
Date last edited 2021-05-05 15:09:58 +02:00 (CEST)

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