Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 14 for Lissencephaly type 3
  1. Isolated lissencephaly sequence 
    ... due to doublecortin gene mutation Genetic Testing Registry: Lissencephaly type 3 Classic lissencephaly National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/.../isolated-lissencephaly-sequence - Genetics
  2. Lissencephaly with cerebellar hypoplasia 
    ... Roberts type Norman-Roberts syndrome Genetic Testing Registry: Lissencephaly type 3 Genetic Testing Registry: Norman-Roberts syndrome Cobblestone lissencephaly ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  3. PAFAH1B1 gene 
    ... cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly. Acta Neuropathol. 2011 Feb;121(2):149-70. doi: 10.1007/s00401-010-0768-9. Epub 2010 Nov 3. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/pafah1b1 - Genetics
  4. DCX gene 
    ... cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly. Acta Neuropathol. 2011 Feb;121(2):149-70. doi: 10.1007/s00401-010-0768-9. Epub 2010 Nov 3. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/dcx - Genetics
  5. Baraitser-Winter syndrome 
    ... disorder in their family. BRWS Cerebro-frontofacial syndrome, type 3 Fryns-Aftimos syndrome Iris coloboma with ptosis, hypertelorism, ...
    https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome - Genetics
  6. Walker-Warburg syndrome 
    Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
  7. Chromosome 17 
    ... kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet. 2003 Apr;72(4): ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  8. ARX gene 
    ... Mucignat V, Rodriguez D, Gelot A. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. Ann Neurol. 2002 Mar;51(3):340-9. doi: 10.1002/ana.10119. Citation ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  9. Fukuyama congenital muscular dystrophy 
    ... H, Toda T. Seizure-genotype relationship in Fukuyama-type congenital muscular ... Med Genet. 1994 Nov 15;53(3):245-50. doi: 10.1002/ajmg.1320530309. Citation ...
    https://medlineplus.gov/.../fukuyama-congenital-muscular-dystrophy - Genetics
  10. POMT1 gene 
    ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1; MDDGB1 ... lead to a defect of protein O-mannosylation. Biochem Biophys Res Commun. 2004 Dec 3;325(1):75-9. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/pomt1 - Genetics
previous · 1 · 2 · next