Global Variome shared LOVD

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Phenotype #0000073663 Individual ID 00095267 Associated disease BAMS Phenotype details complete arhinia ; bilateral microphthalmia. Iris anatomy unknown; hypertelorism. Coarse calcifications along the medial aspect of the globes bilaterally. Narrow high arched palate. Choanal and mastoid air cell atresia bilaterally with a dysmorphic and expansile appearance of the greater wing of the sphenoid bone and infratemporal surface of the maxillary bone bilaterally. Absent paranasal sinuses. Central cleft between the dysmorphic maxilla. Absent cribriform plate and crista galli. No identified osseous plate between the non-pneumatized central nasal passage and the frontal lobes; external genitalia norma; growth deficiency. Thought to have nutritional deficiency. BMI 13.7; significant psychomotor delays. Thought to be related to lack of environmental stimuli; no evidence of olfactory bulbs on CT scan Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-01-13 12:30:06 +01:00 (CET) Date last edited 2017-01-13 12:53:32 +01:00 (CET)

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