MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expand3-phosphoglycerate dehydrogenase deficiency (MONDO:0018491)
Parent Node:
expandautosomal ichthyosis syndrome with fatal disease course (MONDO:0017273)
Parent Node:
expandautosomal ichthyosis syndrome with prominent neurologics signs (MONDO:0017272)
Parent Node:
expanddevelopmental anomaly of metabolic origin (MONDO:0015327)
Parent Node:
expandgenetic multiple congenital anomalies/dysmorphic syndrome (MONDO:0043005)
Parent Node:
expandlissencephaly type 3 (MONDO:0015148)
Parent Node:
expandmultiple congenital anomalies/dysmorphic syndrome-intellectual disability (MONDO:0015159)
..Starting node
..expandNeu-Laxova syndrome ()

       Child Nodes:
........expandNeu-Laxova syndrome 1 ()
........expandNeu-Laxova syndrome 2 ()



 Sister Nodes: 
..expandacrocallosal syndrome ()
..expandacrofacial dysostosis Rodriguez type ()
..expandacrofacial dysostosis, Catania type ()
..expandagnathia-otocephaly complex ()
..expandaniridia-renal agenesis-psychomotor retardation syndrome ()
..expandaortic arch anomaly-facial dysmorphism-intellectual disability syndrome ()
..expandatelosteogenesis type III ()
..expandBannayan-Riley-Ruvalcaba syndrome ()
..expandBiemond syndrome type 2 ()
..expandblepharonasofacial malformation syndrome ()
..expandBonnemann-Meinecke-Reich syndrome ()
..expandBowen-Conradi syndrome ()
..expandbrachydactyly-nystagmus-cerebellar ataxia syndrome ()
..expandBranchioskeletogenital syndrome ()
..expandc syndrome ()
..expandcamptodactyly with fibrous tissue hyperplasia and skeletal dysplasia ()
..expandcardiocranial syndrome, Pfeiffer type ()
..expandcataract-intellectual disability-hypogonadism syndrome ()
..expandcerebrofaciothoracic dysplasia ()
..expandCohen syndrome ()
..expandcortical blindness-intellectual disability-polydactyly syndrome ()
..expandCostello syndrome ()
..expandCrane-Heise syndrome ()
..expandcraniofaciofrontodigital syndrome ()
..expanddelayed speech-facial asymmetry-strabismus-ear lobe creases syndrome ()
..expanddown syndrome ()
..expandDubowitz syndrome ()
..expandepilepsy-telangiectasia syndrome ()
..expandextrasystoles-short stature-hyperpigmentation-microcephaly syndrome ()
..expandfacial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome ()
..expandfaciocardiorenal syndrome ()
..expandfloating-Harbor syndrome ()
..expandfountain syndrome ()
..expandFryns syndrome ()
..expandgapo syndrome ()
..expandhall-Riggs syndrome ()
..expandhirsutism-skeletal dysplasia-intellectual disability syndrome ()
..expandholoprosencephaly-radial heart renal anomalies syndrome ()
..expandhypertelorism, microtia, facial clefting syndrome ()
..expandhypoparathyroidism-retardation-dysmorphism syndrome ()
..expandhypospadias-intellectual disability, Goldblatt type syndrome ()
..expandisolated anencephaly/exencephaly ()
..expandJohanson-Blizzard syndrome ()
..expandJohnson neuroectodermal syndrome ()
..expandkapur-Toriello syndrome ()
..expandKBG syndrome ()
..expandLenz-Majewski hyperostotic dwarfism ()
..expandmicrocephaly-deafness-intellectual disability syndrome ()
..expandMowat-Wilson syndrome ()
..expandMyhre syndrome ()
..expandNeu-Laxova syndrome ()
..expandomphalocele syndrome, Shprintzen-Goldberg type ()
..expandophthalmoplegia-intellectual disability-lingua scrotalis syndrome ()
..expandpseudoprogeria syndrome ()
..expandRamos-Arroyo syndrome ()
..expandRuvalcaba syndrome ()
..expandShprintzen-Goldberg syndrome ()
..expandSmith-Magenis syndrome ()
..expandStimmler syndrome ()
..expandStromme syndrome ()
..expandtemtamy syndrome ()
..expandtrichorhinophalangeal syndrome type II ()
..expanduveal coloboma-cleft lip and palate-intellectual disability ()
..expandWilliams syndrome ()
..expandWolf-Hirschhorn syndrome ()
..expandZimmermann-Laband syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:179
Name:Neu-Laxova syndrome
Definition:Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:Neu Laxova syndrome; NLS; nuclear localization signal
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes: RAB23;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal