Global Variome shared LOVD

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Phenotype #0000050834 Individual ID 00064296 Associated disease MOHR;OFD2 Phenotype details incomplete midline lip, alveolar cleft (HP:0010289), submucous cleft hard palate (HP:0000176), bifid tongue with hyperplastic frenula, tongue hamartomas, general dental hypoplasia (HP:0006282), dental agenesis (HP:0000674), central incisors and cuspids with talon cusps, taurodontia (HP:0000679), maxillary hypoplasia (HP:0010650), brachydactyly, syndactyly of fingers, bilateral broad hallux, mild mesomeric limb shortening in lower limbs, mild conductivehearing loss, bilateral tortuosity of the retinal veins (HP:0012841) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Glen Monroe Database submission license No license selected Created by Johan den Dunnen Date created 2016-04-29 16:02:28 +02:00 (CEST) Date last edited N/A

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