Phenotype #0000288770

Individual ID 00395572
Associated disease -
Phenotype details exudative retinal detachment, nystagmus, rod-cone dystrophy, photophobia, conductive hearing impairment, obesity, delayed puberty, elevated alkaline phosphatase, pulmonary tuberculosis, abnormality of finger, brachydactyly syndrome, kyphoscoliosis, gynecomastia, deeply set eye, thin upper lip vermilion, alopecia
Diagnosis/Initial Alstrom-like syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite Alstrom 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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