Hydrolethalus syndrome (HLS) is a rare genetic disorder that causes improper fetal development, resulting in birth defects and, most commonly, stillbirth...

Hurler–Scheie syndrome Hutchinson–Gilford progeria syndrome Hydrolethalus syndrome Hyper IgM syndrome Hyper-IgD syndrome Hyper-IgM syndrome type 1 Hyper-IgM...

lipomatosis FG syndrome Hallermann–Streiff syndrome Hydrolethalus syndrome Hypomelanosis syndrome Hypomelanosis of Ito Kelvin Peter anomaly plus syndrome Lujan–Fryns...

a set of characteristic physiological features which define whether a syndrome is a ciliopathy. Although ciliopathies are usually considered to involve...

syndrome Gyrate atrophy of choroid and retina Hydrolethalus syndrome 1 Infantile-onset spinocerebellar ataxia (Mitochondrial DNA depletion syndrome 7)...

Hutchinson-Gilford syndrome Hydrolethalus syndrome 1 and 2 Immunodeficiency 49 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Infantile...

Hydrolethalus syndrome protein 1 is a protein that in humans is encoded by the HYLS1 gene. Hyls1 is incorporated into centrioles as they are formed but...

low insertion umbilicus Hydrocephaly tall stature joint laxity Hydrolethalus syndrome Hydronephrosis Hydronephrosis peculiar facial expression Hydrophobia...

Hydrocephalus with Hirschsprung disease and cleft palate; 142623; L1CAM Hydrolethalus syndrome; 236680; HYLS1 Hyperalphalipoproteinemia; 143470; CETP Hyperbilirubinemia...

Gomes, Céline (2013-06-06). "KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes". Nature Genetics. 43 (6): 601–606. doi:10.1038/ng.826...

"Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study"...

Thomas S, et al. Costal2 (KIF7) mutations cause fetal Hydrolethalus and Acrocallosal syndromes and expand the ciliopathy spectrum. Nat Genet 2011, in...