Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects

Alternative Names

IDDMDS

Associated Genes

Leucine-Rich Gene, Glioma-Inactivated, 3

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WHO-ICD-10 version:2010

Mental and behavioural disorders

OMIM Number

620007

Mode of Inheritance

Autosomal recessive

Gene Map Locus

8p21.3

Description

Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects (IDDMDS) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy manifest as speech delay and late walking by a few years. Affected individuals have hypertonia or, more rarely, hypotonia; a notable common feature is facial myokymia with corresponding EMG findings. Additional features include distal skeletal defects such as joint contractures, hypo- or areflexia, and hernia. [From OMIM]

Epidemiology in the Arab World

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Subject ID	Country	Sex	Family History	Parental Consanguinity	HPO Terms	Variant	Zygosity	Mode of Inheritance	Reference	Remarks
620007.1.1	Jordan	Male	Yes	Yes	Global developmental delay; Hyporeflexia... Global developmental delay; Hyporeflexia; Abnormality of peripheral nervous system electrophysiology; EMG: myokymic discharges; Abnormality of limb bone morphology	NM_139278.4:c.494+1G>C	Homozygous	Autosomal, Recessive	Marafi et al. 2022b	Index patient from '...
620007.1.2	Jordan	Male	Yes	Yes	Global developmental delay; Hyporeflexia... Global developmental delay; Hyporeflexia; EMG: myokymic discharges; Abnormality of limb bone morphology	NM_139278.4:c.494+1G>C	Homozygous	Autosomal, Recessive	Marafi et al. 2022b	Brother of 620007.1....
620007.2.1	Jordan	Male	Yes	Yes	Global developmental delay; Intellectual... Global developmental delay; Intellectual disability, mild	NM_139278.4:c.991G>A	Homozygous	Autosomal, Recessive	Marafi et al. 2022b; Froukh. 2017	Index patient from '...
620007.2.2	Jordan	Male	Yes	Yes	Global developmental delay; Intellectual... Global developmental delay; Intellectual disability, mild	NM_139278.4:c.991G>A	Homozygous	Autosomal, Recessive	Marafi et al. 2022b; Froukh. 2017	Brother of 620007.2....
620007.3.1	Saudi Arabia	Female	Yes	No	Global developmental delay; Intellectual... Global developmental delay; Intellectual disability, mild; Abnormality of limb bone morphology	NM_139278.4:c.1117del	Homozygous	Autosomal, Recessive	Marafi et al. 2022b	Index patient from '...
620007.3.2	Saudi Arabia	Male	Yes	No	Global developmental delay; Intellectual... Global developmental delay; Intellectual disability, mild; Abnormality of limb bone morphology	NM_139278.4:c.1117del	Homozygous	Autosomal, Recessive	Marafi et al. 2022b	Brother of 620007.3....
620007.4.1	Saudi Arabia	Female	Yes	Yes	Global developmental delay; Intellectual... Global developmental delay; Intellectual disability, mild; Abnormality of limb bone morphology	NM_139278.4:c.1117del	Homozygous	Autosomal, Recessive	Marafi et al. 2022b	Index patient from '...
620007.4.2	Saudi Arabia	Female	Yes	Yes	Global developmental delay; Intellectual... Global developmental delay; Intellectual disability, mild; Abnormality of limb bone morphology	NM_139278.4:c.1117del	Homozygous	Autosomal, Recessive	Marafi et al. 2022b	Sister of 620007.4.1
620007.5.1	Iraq	Male	Yes	Yes	Global developmental delay; Intellectual... Global developmental delay; Intellectual disability, mild; Abnormality of limb bone morphology; Hyporeflexia; Facial myokymia; Narrow mouth	NM_139278.4:c.422T>A	Homozygous	Autosomal, Recessive	Marafi et al. 2022b	Index patient from '...
620007.5.2	Iraq	Male	Yes	Yes	Global developmental delay; Intellectual... Global developmental delay; Intellectual disability, mild; Abnormality of limb bone morphology; Hyporeflexia; Facial myokymia; Narrow mouth; EMG: myokymic discharges	NM_139278.4:c.422T>A	Homozygous	Autosomal, Recessive	Marafi et al. 2022b	Brother of 620007.5....
620007.5.3	Iraq	Male	Yes	Yes	Global developmental delay; Abnormality ... Global developmental delay; Abnormality of limb bone morphology; Hyporeflexia; Facial myokymia; Narrow mouth; Intellectual disability, moderate	NM_139278.4:c.422T>A	Homozygous	Autosomal, Recessive	Marafi et al. 2022b	Brother of 620007.5....

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Contributors

Asha Deepthi: 16.03.2023

Edit History

Pratibha Nair: 20.09.2023
Asha Deepthi: 16.03.2023