Phenotype #0000351835

Individual ID 00466473
Associated disease ML4
Phenotype details Vitreoretinopathy, Delayed speech and language development, Hearing impairment, Hypotonia, Motor delay, achlorhydria, anaemia,
Diagnosis/Initial Motor delay and strabism
Inheritance Familial, autosomal recessive
Diagnosis/Definite Mucolipidosis IV
Age/Examination 1y 8 months
Age/Diagnosis 03y
Age/Onset 1y 8 months
Phenotype/Onset Chilhood onset
Protein -
Owner name Maria Elena García Paya
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Maria Elena García Paya
Date created 2025-09-08 09:32:28 +02:00 (CEST)
Date last edited 2025-09-08 11:40:12 +02:00 (CEST)

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