Disease #05393 (RFMN (syndrome, Roifman (RFMN)), OMIM:616651)

Official abbreviation RFMN
Name syndrome, Roifman (RFMN)
OMIM ID 616651
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene RNU4ATAC
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00151831 109859 - - F no Germany - - 0 - - RFMN Hepatomegaly, neonatal jaundice, short stature, Intrauterine growth restriction (IUGR), recurrent infections, Eczema, Hypotonia RNU4ATAC RNU4ATAC 2 1 Andreas Laner
00207832 26522830-FamK1 PubMed: Merico 2015 2-generation family, affected brothers, unaffected heterozygous carrier parents/relatives M no United Kingdom (Great Britain) - - 0 - - RFMN see paper; markedly long philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ... RNU4ATAC RNU4ATAC 2 2 Johan den Dunnen
00207833 26522830-FamK2 PubMed: Merico 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - 0 - - RFMN see paper; markedly long philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ... RNU4ATAC RNU4ATAC 2 1 Johan den Dunnen
00207834 26522830-FamK3 PubMed: Merico 2015 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Lebanon - - 0 - - RFMN see paper; markedly long philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ... RNU4ATAC RNU4ATAC 2 2 Johan den Dunnen
00207835 26522830-FamK4 PubMed: Merico 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Albania - - 0 - - RFMN see paper; markedly long philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ... RNU4ATAC RNU4ATAC 2 1 Johan den Dunnen
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