Disease #00722

Official abbreviation MMFD
Name macrocephaly, macrosomia, facial dysmorphism syndrome (MMFD)
OMIM ID 614192
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 9
Phenotype entries for this disease 9
Associated with 1 gene RNF135
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Disease features -
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Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00112387 - PubMed: Douglas 2007 Mother: no clinical information available M - United Kingdom (Great Britain) - - 0 - - MMFD height +2.1SD, weight +2.0SD, head circ. +2.2SD, learning disability - mild; Autistic spectrum disorder, unilateral cryptorchidism, dysmorphism, normal bone age; overgrowth RNF135 RNF135 1 1 Johan den Dunnen
00112394 - PubMed: Douglas 2007 - - - - - - 0 - - MMFD - RNF135 RNF135 1 1 Johan den Dunnen
00112395 - PubMed: Douglas 2007 Mother and brother: mild learning disability, macrocephaly dysmorphism F - United Kingdom (Great Britain) - - 0 - - MMFD height +2.5SD, weight +4.4SD, head circ. +2.0SD, learning disability - moderate; Unilateral deafness, ataxia, dysmorphism, advanced bone age; overgrowth RNF135 RNF135 1 1 Johan den Dunnen
00112396 - PubMed: Douglas 2007 Father: overgrowth only F - France - - 0 - - MMFD height +2.3SD, weight +3.0SD, head circ. +2.1SD, learning disability - mild; Strabismus, dysmorphism, advanced bone age; overgrowth RNF135 RNF135 1 1 Johan den Dunnen
00112397 - PubMed: Douglas 2007 Father: macrocephaly F - United Kingdom (Great Britain) - - 0 - - MMFD height +1.1SD, weight +1.3SD, head circ. +4.1SD, learning disability - moderate; Autistic spectrum disorder, cranial asymmetry, dysmorphism, dyspraxia; overgrowth RNF135 RNF135 1 1 Johan den Dunnen
00112399 - PubMed: Douglas 2007 Father and brother: speech delay and macrocephaly F - China - - 0 - - MMFD height +2.3SD, weight +2.3SD, head circ. +3.3SD, learning disability - severe; Bilateral optic nerve hypoplasia, pulmonary stenosis, mild pectus carinatum, dysmorphism, advanced bone age; overgrowth RNF135 RNF135 1 1 Johan den Dunnen
00112400 - PubMed: Douglas 2007 Mother: macrocephaly F - China - - 0 - - MMFD height +2.9SD, weight +2.8SD, head circ. +3.9SD, learning disability - mild; Macropthalmia, severe myopia, mixed bilateral hearing loss, dysmorphism; overgrowth RNF135 RNF135 1 1 Johan den Dunnen
00112401 - PubMed: Douglas 2007 - - - - - - 0 - - MMFD overgrowth RNF135 RNF135 1 1 Johan den Dunnen
00112402 - PubMed: Douglas 2007 - - - - - - 0 - - MMFD - RNF135 RNF135 1 4 Johan den Dunnen
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