Phenotype #0000129100

Individual ID	00163997
Associated disease	OFD14
Phenotype details	facial dysmorphism, cleft tongue, lobulated tongue, buccal frenulae, lingual hamartoma, cleft palate, absent epiglottis, supernumary teeth, bilaterail hand post axial polydactyly, bilateral broad hallux; microcephaly (OFC 42.3cm, -5 SD); no ataxia, no abnormal eye movements, no nystagmus, no ventilatory disorders (apnea, hyperpnea), no deafness, retinopathy, intellectual disability; walking, no speech; molar tooth signs; incomplete corpus callosum agenesis, subarachnoid cysts, myelinisation defect, no cardiac malformations, no abdominorenal malformations; micropenis; sister similar anomalies and cardiac malformation leading to neonatal death
Diagnosis/Initial	orofaciodigital syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	OFD-14
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-05-04 15:48:54 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD