Phenotype #0000050835

Individual ID 00064295
Associated disease MOHR;OFD2
Phenotype details incomplete midline lip, alveolar cleft (HP:0010289), Submucous cleft hard palate (HP:0000176), hyperplastic frenula, tongue hamartomas, general dental hypoplasia (HP:0006282), dental agenesis (HP:0000674), cupular shaped upper incisors, taurodontia (HP:0000679), maxillary hypoplasia (HP:0010650), protruding ears (HP:0000411), brachydactyly, clinodactyly digiti V (HP:0004209), bifid right hallux, broad left hallux, mild mesomeric limb shortening in lower limbs, progressive (mainly conductive) hearing loss (HP:0005101), 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 16:12:45 +02:00 (CEST)
Date last edited 2016-04-29 16:13:08 +02:00 (CEST)

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