Disease #05160 (MOHR;OFD2 (MOHR syndrome (MOHR, orofaciodigital syndrome type 2 (OFD-2))), OMIM:252100)

Official abbreviation MOHR;OFD2
Name MOHR syndrome (MOHR, orofaciodigital syndrome type 2 (OFD-2))
OMIM ID 252100
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2016-04-29 16:00:23 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00064295 FamPatVi2 PubMed: Monroe 2016, Journal: Monroe 2016 6-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Netherlands Dutch - - yes none MOHR;OFD2 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) NEK1 NEK1 2 2 Glen Monroe
00064296 FamPatVi3 PubMed: Monroe 2016, Journal: Monroe 2016 - M yes Netherlands Dutch - - yes none MOHR;OFD2 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) NEK1 NEK1 2 1 Glen Monroe
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