Phenotypes for disease #05393 (RFMN (syndrome, Roifman (RFMN)), OMIM:616651)

5 entries on 1 page. Showing entries 1 - 5.
Legend   How to query  

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000125491 syndrome, Roifman - Hepatomegaly, neonatal jaundice, short stature, Intrauterine growth restriction (IUGR), recurrent infections, Eczema, Hypotonia Familial, autosomal recessive 00y 05y - neonatal jaundice - Andreas Laner 00151831
0000155616 Roifman syndrome 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, ... Familial, autosomal recessive - - - - - Johan den Dunnen 00207832
0000155617 Roifman syndrome 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, ... Familial, autosomal recessive - - - - - Johan den Dunnen 00207833
0000155618 Roifman syndrome 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, ... Familial, autosomal recessive - - - - - Johan den Dunnen 00207834
0000155619 Roifman syndrome 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, ... Familial, autosomal recessive - - - - - Johan den Dunnen 00207835
Legend   How to query