Neurodevelopmental Disorder with Hypotonia and Gross Motor and Speech Delay

Alternative Names

  • NEDHMS
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WHO-ICD-10 version:2010

Mental and behavioural disorders

OMIM Number

619639

Mode of Inheritance

Autosomal recessive

Gene Map Locus

11q23.3

Description

Neurodevelopmental disorder with hypotonia and gross motor and speech delay (NEDHMS) is an autosomal recessive disorder characterized by severe global developmental delay apparent from infancy. Affected individuals have axial hypotonia and limited ability to walk, including some who are nonambulatory with lower limb spasticity, impaired intellectual development, and poor or absent speech and language. Additional more variable features may include seizures, behavioral problems, distal skeletal anomalies, and dysmorphic facial features. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
619639.1.1Saudi ArabiaMaleYesYes Intellectual disability, severe; Poor sp...NM_001204077.2:c.384G>AHomozygousAutosomal, RecessiveAnazi et al. 2017; Melo et al. 2021 Patient from 'family...
619639.1.2Saudi ArabiaFemaleYesYes Intellectual disability, severe; Poor sp...NM_001204077.2:c.384G>AHomozygousAutosomal, RecessiveAnazi et al. 2017; Melo et al. 2021 Sister of 619639.1.1
619639.2.1IraqMaleYes Intellectual disability, severe; Poor sp...NM_001204077.2:c.631C>THomozygousAutosomal, RecessiveMelo et al. 2021 Patient from 'family...
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