Phenotype #0000333330

Individual ID 00443990
Associated disease SEMDSP
Diagnosis/Initial spondyloepimetaphyseal dysplasia,
Diagnosis/Definite SEMDSO
Phenotype details rhizomelia, disproportioned short stature, microcephaly, relative macrocephaly, increased lumbar lordosis, kyphosis, metaphyseal dysplasia
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Murat Ozturk
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Murat Ozturk
Date created 2023-12-13 11:03:52 +01:00 (CET)
Date last edited 2023-12-13 16:00:53 +01:00 (CET)

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