LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3

LSDMCA3

http://purl.bioontology.org/ontology/OMIM/300952

LSDMCA3

LINEAR SKIN DEFECTS WITH CARDIOMYOPATHY AND OTHER CONGENITAL ANOMALIES

C4225421

Xp11.3

MC1DN30

NDUFB11

LSDMCA3

http://purl.bioontology.org/ontology/OMIM/MTHU049280

http://purl.bioontology.org/ontology/OMIM/MTHU068080

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU001955

http://purl.bioontology.org/ontology/OMIM/MTHU049278

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU049273

http://purl.bioontology.org/ontology/OMIM/MTHU016244

http://purl.bioontology.org/ontology/OMIM/MTHU068078

http://purl.bioontology.org/ontology/OMIM/MTHU049274

http://purl.bioontology.org/ontology/OMIM/MTHU005089

http://purl.bioontology.org/ontology/OMIM/MTHU012138

http://purl.bioontology.org/ontology/OMIM/MTHU049281

http://purl.bioontology.org/ontology/OMIM/MTHU005011

http://purl.bioontology.org/ontology/OMIM/MTHU037226

http://purl.bioontology.org/ontology/OMIM/MTHU012710

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU049279

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU068077

http://purl.bioontology.org/ontology/OMIM/MTHU004222

http://purl.bioontology.org/ontology/OMIM/MTHU019869

http://purl.bioontology.org/ontology/OMIM/MTHU068079

Phenotype description, molecular basis known.

300952

3

pound

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3

Skewed X-inactivation, with complete skewing in some individuals [MISCELLANEOUS]

Based on report of 2 unrelated patients (last curated May 2015) [MISCELLANEOUS]

Congenital linear skin defects may disappear within a few months of life [MISCELLANEOUS]

Caused by mutation in the NADH dehydrogenase-1 beta subcomplex-11 gene (NDUFB11, 300403.0001) [MOLECULAR BASIS]

T047