Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2

Alternative Names

  • IHPRF2
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

616801

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2q34

Description

Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
616801.4.1EgyptMaleYesYes Psychomotor retardation; Severe; Autis... NM_032504.1:c.1679_1680delACHomozygousAutosomal, RecessiveBramswig et al. 2018
616801.4.2EgyptMaleYesYes Psychomotor retardation; Severe; Autis... NM_032504.1:c.1679_1680delACHomozygousAutosomal, RecessiveBramswig et al. 2018 Sibling of 616801.4....
616801.5EgyptFemaleYesYes Infantile axial hypotonia; Psychomotor ... NM_032504.1:c.5671C>THomozygousAutosomal, RecessiveBramswig et al. 2018 Similarly affected p...
616801.6EgyptMaleYes Psychomotor retardation; Failure to thr... NM_032504.1:c.8058+2T>GHomozygousAutosomal, RecessiveBramswig et al. 2018
616801.7.1EgyptFemaleYesYes Global development delay; Failure to th... NM_032504.1:c.601-1G>AHomozygousAutosomal, RecessiveBramswig et al. 2018 Similarly affected m...
616801.7.2EgyptMaleYesYes Global development delay; Failure to th... NM_032504.1:c.601-1G>AHomozygousAutosomal, RecessiveBramswig et al. 2018
616801.1LebanonMaleYes Intellectual disability; Muscular hypo... NM_032504.1:c.7697A>CHomozygousAutosomal, RecessiveNair et al. 2018
616801.8.1Palestine; United Arab...FemaleYes Hypotonia; Microcephaly; Abnormal facial... NM_032504.1:c.8525G>AHomozygousAutosomal, RecessiveObeid et al. 2018 Proband (Emirati of ...
616801.3.1Saudi ArabiaMaleYesYes Muscular hypotonia; Severe; Neurodevel... NM_032504.1:c.520C>THomozygousAutosomal, RecessiveBramswig et al. 2018 Two older similarly ...
616801.3.2Saudi ArabiaFemaleYesYes Muscular hypotonia; Neurodevelopmental ... NM_032504.1:c.520C>THomozygousAutosomal, RecessiveBramswig et al. 2018 Sibling of 616801.3....
616801.3.3Saudi ArabiaFemaleYesYes Intrauterine growth retardation; Muscul... NM_032504.1:c.520C>THomozygousAutosomal, RecessiveBramswig et al. 2018 Relative of 616801.3...
616801.3.4Saudi ArabiaFemaleYesYes Intrauterine growth retardation; Microc... NM_032504.1:c.520C>THomozygousAutosomal, RecessiveBramswig et al. 2018 Sibling of 616801.3....
616801.2SyriaMaleNoYes Neonatal hypotonia; Neurodevelopmental ... NM_032504.1:c.8116C>THomozygousAutosomal, RecessiveBramswig et al. 2018
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