Phenotype #0000034019

Individual ID 00039400
Associated disease BBSOAS
Phenotype details Protruding ear (HP:0000411); Abnormality of the nares (HP:0005288); Thick nasal alae (HP:0009928); Abnormality of the thorax (HP:0000765); Long fingers (HP:0100807); Long toe (HP:0010511); Reduced visual acuity (HP:0007663); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Abnormal macular morphology (HP:0001103); Abnormal timing of flash visual evoked potentials (HP:0030461); Abnormal timing of pattern onset/offset visual evoked potentials (HP:0030458); Eccentric visual fixation (HP:0025549); Intellectual disability, moderate (HP:0002342); Cerebral visual impairment (HP:0100704); Neurodevelopmental delay (HP:0012758); Visual field defect (HP:0001123); Strabismus (HP:0000486)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 12y (12 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 20:21:27 +02:00 (CEST)
Date last edited 2021-05-05 15:01:10 +02:00 (CEST)

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