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Medical condition
Hydrolethalus syndrome (HLS) is a rare genetic disorder that causes improper fetal development, resulting in birth defects and, most commonly, stillbirth
Hydrolethalus_syndrome
Syndromes
disease-like syndrome HUPRA syndrome Hurler syndrome Hurler–Scheie syndrome Hutchinson–Gilford progeria syndrome Hydrolethalus syndrome Hyper IgM syndrome Hyper-IgD
List_of_syndromes
Protein-coding gene in the species Homo sapiens
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
HYLS1
Abnormally large head size
lipomatosis FG syndrome Hallermann–Streiff syndrome Hydrolethalus syndrome Hypomelanosis syndrome Hypomelanosis of Ito Kelvin Peter anomaly plus syndrome Lujan–Fryns
Macrocephaly
Condition in which the jaw is small
Hutchinson–Gilford syndrome Hydrolethalus syndrome 1 and 2 Immunodeficiency 49 Immunodeficiency–centromeric instability–facial anomalies syndrome 1 Infantile
Micrognathism
Physical abnormality in a living organism
Schinzel-Giedion syndrome Raine syndrome Pfeiffer syndrome (Type 3 or most frequently, 2) Melnick-Needles syndrome in males Hydrolethalus syndrome Fryns syndrome There
Deformity
Group of autosomal recessive genetic disorders that affect Finns much more frequently
syndrome Gyrate atrophy of choroid and retina Hydrolethalus syndrome 1 Infantile-onset spinocerebellar ataxia (Mitochondrial DNA depletion syndrome 7)
Finnish_heritage_disease
Medical condition
Gomes, Céline (2013-06-06). "KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes". Nature Genetics. 43 (6): 601–606. doi:10.1038/ng.826
Acrocallosal_syndrome
Genetic disorder
"Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study"
Young–Madders_syndrome
low insertion umbilicus Hydrocephaly tall stature joint laxity Hydrolethalus syndrome Hydronephrosis Hydronephrosis peculiar facial expression Hydrophobia
List_of_diseases_(H)
Genetic disease resulting in abnormal formation or function of cilia
lead to a broad spectrum of clinical features. Syndromic ciliopathies, such as Bardet-Biedl syndrome (BBS), typically involve multiple organ systems
Ciliopathy
Hydrocephalus with Hirschsprung disease and cleft palate; 142623; L1CAM Hydrolethalus syndrome; 236680; HYLS1 Hyperalphalipoproteinemia; 143470; CETP Hyperbilirubinemia
List_of_OMIM_disorder_codes
French geneticist
Thomas S, et al. Costal2 (KIF7) mutations cause fetal Hydrolethalus and Acrocallosal syndromes and expand the ciliopathy spectrum. Nat Genet 2011, in
Stanislas_Lyonnet
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