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...

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

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...

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

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

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...