Phenotype #0000228648

Individual ID 00301520
Associated disease SEMDSP
Diagnosis/Initial Sponastrime dysplasia
Diagnosis/Definite Sponastrime dysplasia
Phenotype details Frontal bossing, saddled nasal bridge, broad nose, midface hypoplasia, low-set ears, long face, obtuse angles of the mandible, small teeth, short limbs with rhizomelia and relatively normal extremities, genua valga, flatfeet and generalized joint hypermobility.
Inheritance Familial, autosomal recessive
Age/Examination 09y (9 years)
Age/Diagnosis 09y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Lucia Micale
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Lucia Micale
Date created 2020-05-18 13:59:53 +02:00 (CEST)
Date last edited 2020-05-19 10:37:56 +02:00 (CEST)

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