Phenotype #0000309864

Individual ID 00418528
Associated disease SMD
Diagnosis/Initial spondylometaphyseal dysplasia
Diagnosis/Definite -
Phenotype details birth weight 2700g; normal developmental milestones; <4y-normal groth/feeding; height 158.5 cm (-2.5 SD); mild rhizomelia upper and lower limbs; OFC 50-75th; mild kyphosis, thoracic region; broad thumbs, short 4-5th metacarpels; no acromelia; flat feet; normal face; normal palate; platyspondyly; (widespread metaphyseal changes; delayed bone age; normal bone density
Inheritance Familial, autosomal recessive
Age/Examination 26y (26 years)
Age/Onset 13y
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 2022-09-29 19:58:49 +02:00 (CEST)
Date last edited N/A

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