Phenotype #0000037283

Individual ID 00050671
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details radioulnar synostosis, osteopenia, ventriculomegaly, cleft palate, bilateral single transverse palmar creases, abnormality of male external genitalia, gastroesophageal reflux, optic nerve hypoplasia, micrognathia, generalized hypotonia, vertebral compression fractures, lumbar hemivertebrae, hypermetropia, 2-3 toe syndactyly, hemimegalencephaly, mild short stature
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2015-09-27 16:16:40 +02:00 (CEST)
Date last edited N/A

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