Phenotype #0000074180

Individual ID 00095890
Associated disease SMDCRD
Phenotype details pigmentary maculopathy (HP:0008002), 11y cone-rod dystrophy (HP:0000548), short stature (HP:0003502), bowing long bones (HP:0006487), platyspondyly (HP:0000926), metaphyseal irregularities (HP:0003025), metaphyseal cupping (HP:0003021)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 6m
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-01-21 16:41:25 +01:00 (CET)
Date last edited N/A

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