homolog 1 is a protein that in humans is encoded by the NDE1 gene. Mutations in both copies of NDE1 cause microlissencephaly type 4. ENSG00000275911 GRCh38:...

an autosomal recessive manner via a loss-of-function mutation of the gene NDE1. Jaxon Buell was born on August 27, 2014, with 80% of his brain, and most...

intellectual disability Hypertrophic osteoarthropathy, primary, autosomal dominant NDE1-related microhydranencephaly Necrotizing encephalomyelopathy, subacute, of...

autosomal recessive Microcephaly 5, primary, autosomal recessive Muenke syndrome NDE1-related microhydranencephaly Neonatal pseudo-hydrocephalic progeroid syndrome...

inheritance. Mutation of RELN gene or CIT could cause MLIS. Human NDE1 mutations and mouse Nde1 loss lead to cortical lamination deficits, which, together with...

epistasis). It has been suggested that an interaction between CENPF and NDE1, which causes microlissencephaly when mutated, is related to the microcephaly...

Q92542 10342 NDC1 HGNC:25525 Q9BTX1 10343 NDC80 HGNC:16909 O14777 10344 NDE1 HGNC:17619 Q9NXR1 10345 NDEL1 HGNC:17620 Q9GZM8 10346 NDFIP1 HGNC:17592 Q9BT67...

syndrome 248700 PIEZO2 MASA syndrome 303350 L1CAM Microhydranencephaly 605013 NDE1 Mowat–Wilson syndrome 235730 ZEB2 NDH syndrome 610199 GLIS3 Oculoauriculofrontonasal...

Jan, M; Shaheen, R; Feng, Y; Walsh, CA (13 May 2011). "Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]". American Journal...

effects in the development of the nervous system. Mutations in either Lis1 or Nde1, essential proteins for radial glial differentiation and stabilization, cause...