Phenotype #0000034039

Individual ID 00043810
Associated disease CVI
Phenotype details Tapered finger (HP:0001182); Abnormal finger flexion creases (HP:0006143); 2-3 toe syndactyly (HP:0004691); Feeding difficulties in infancy (HP:0008872); Reduced visual acuity (HP:0007663); Strabismus (HP:0000486); Nystagmus (HP:0000639); Cataract (HP:0000518); Optic atrophy (HP:0000648); Cerebral visual impairment (HP:0100704); Intellectual disability, mild (HP:0001256)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 24y (24 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Marc Ferre
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-06-21 21:07:15 +02:00 (CEST)
Date last edited 2021-05-05 14:06:32 +02:00 (CEST)

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