Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities (HIDEA)

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OMIM® 57 618493 MeSH 44 D065886

MedGen 41 C5193124 CN260596 SNOMED-CT via HPO 68 109504005 111266001 128601007 128613002 14760008 15993004 202271004 224958001 225595004 22631008 22810007 228156007 237836003 246545002 247578003 258211005 271611007 274521009 282145008 298193009 313307000 31515003 35743001 38101003 386661006 386689009 387742006 394616008 399054005 399252000 413924001 414564002 414915002 414916001 50177009 57190000 64217002 68574006 699014000 73430006 76976005 80954004 82649003 84757009 91138005 91175000 more

OMIM® : ⁵⁷ Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities (HIDEA) is an autosomal recessive neurodevelopmental syndrome characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties, including hypoventilation, and sleep apnea. Patients may have significant breathing problems during respiratory infections that may lead to early death (summary by Rahikkala et al., 2019). (618493) (Updated 20-May-2021)

MalaCards based summary : Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities, also known as hidea, is related to alacrima, achalasia, and mental retardation syndrome and dysautonomia. An important gene associated with Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities is P4HTM (Prolyl 4-Hydroxylase, Transmembrane). Affiliated tissues include eye and temporal lobe, and related phenotypes are coarse facial features and microcephaly

UniProtKB/Swiss-Prot : ⁷² Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties. Disease onset is in infancy and death due to respiratory insufficiency may occur.

Clinical features from OMIM®:

618493 (Updated 20-May-2021)

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