DISEASE: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Entry
H02986 Disease
Name
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Description
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (NEDMCR) is a rare hereditary disorder caused by mutations in GEMIN4, a component of the SMN complex. The SMN complex is responsible for the assembly and maturation of the Sm-class of small nuclear ribonucleoproteins, the key components of the spliceosomes.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02986 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Pathway-based classification of diseases [BR:br08402]
Replication, repair and transcription
nt06547 Spliceosome
H02986 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Patel N, Anand D, Monies D, Maddirevula S, Khan AO, Algoufi T, Alowain M, Faqeih E, Alshammari M, Qudair A, Alsharif H, Aljubran F, Alsaif HS, Ibrahim N, Abdulwahab FM, Hashem M, Alsedairy H, Aldahmesh MA, Lachke SA, Alkuraya FS
Title
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
Aldhalaan H, AlBakheet A, AlRuways S, AlMutairi N, AlNakiyah M, AlGhofaili R, Cardona-Londono KJ, Alahmadi KO, AlQudairy H, AlRasheed MM, Colak D, Arold ST, Kaya N
Title
A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.
