Phenotype #0000326300

Individual ID 00436116
Associated disease SEMD
Phenotype details see paper; ..., 2y-died; fetal ultrasound severe intra-uterine growth retardation, birth premature; failure to thrive, short stature; epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; cardiac anomaly; hydronephrosis; delayed motor milestones and speech, generalized hypotonia
Diagnosis/Initial spondyloepimetaphyseal dysplasia
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 2y (2 years)
Age/Onset -
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 2023-08-10 22:14:44 +02:00 (CEST)
Date last edited N/A

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