Phenotype #0000129101

Individual ID 00163998
Associated disease OFD14
Phenotype details fetus 22w gestation; facial dysmorphism, no cleft tongue, no lobulated tongue, buccal frenulae, no lingual hamartoma, no cleft palate, no absent epiglottis, bilaterail hand post axial polydactyly, bilateral broad hallux; microcephaly (brain weight 50g, -4 SD); vermian hypoplasia; incomplete corpus callosum agenesis, subarachnoid cysts, no myelinisation defect, no cardiac malformations; right renal hypoplasia; micropenis
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
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 2018-05-04 15:55:17 +02:00 (CEST)
Date last edited N/A

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