Phenotype #0000288773

Individual ID 00395575
Associated disease -
Phenotype details astigmatism, early onset rod-cone dystrophy, hypermetropia, strabismus, global developmental delay, tip-toe gait, talipes equinovarus, anteverted nares, broad nasal tip, depressed nasal bridge, hypertelorism, long philtrum, low anterior hairline, narrow palate, retrognathia, thin vermilion border
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite Early-onset retinitis pigmentosa, deletion syndrome
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-12-08 14:12:08 +01:00 (CET)
Date last edited N/A

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