Hydrolethalus syndrome (HLS) is a rare genetic disorder that causes improper fetal development, resulting in birth defects and, most commonly, stillbirth...
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Hurler–Scheie syndrome Hutchinson–Gilford progeria syndrome Hydrolethalus syndrome Hyper IgM syndrome Hyper-IgD syndrome Hyper-IgM syndrome type 1 Hyper-IgM...
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Macrocephaly (redirect from Learman syndrome)
lipomatosis FG syndrome Hallermann–Streiff syndrome Hydrolethalus syndrome Hypomelanosis syndrome Hypomelanosis of Ito Kelvin Peter anomaly plus syndrome Lujan–Fryns...
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a set of characteristic physiological features which define whether a syndrome is a ciliopathy. Although ciliopathies are usually considered to involve...
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syndrome Gyrate atrophy of choroid and retina Hydrolethalus syndrome 1 Infantile-onset spinocerebellar ataxia (Mitochondrial DNA depletion syndrome 7)...
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Hutchinson-Gilford syndrome Hydrolethalus syndrome 1 and 2 Immunodeficiency 49 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Infantile...
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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...
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low insertion umbilicus Hydrocephaly tall stature joint laxity Hydrolethalus syndrome Hydronephrosis Hydronephrosis peculiar facial expression Hydrophobia...
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Gomes, Céline (2013-06-06). "KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes". Nature Genetics. 43 (6): 601–606. doi:10.1038/ng.826...
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Hydrocephalus with Hirschsprung disease and cleft palate; 142623; L1CAM Hydrolethalus syndrome; 236680; HYLS1 Hyperalphalipoproteinemia; 143470; CETP Hyperbilirubinemia...
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"Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study"...
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Thomas S, et al. Costal2 (KIF7) mutations cause fetal Hydrolethalus and Acrocallosal syndromes and expand the ciliopathy spectrum. Nat Genet 2011, in...
7 KB (884 words) - 20:06, 27 October 2023