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Hypomagnesemia, seizures, and intellectual disability 1(HOMGSMR1)

MedGen UID:: 906582
•Concept ID:: C4225333
•: Disease or Syndrome

Synonyms:	HOMGSMR1; HYPOMAGNESEMIA, SEIZURES, AND IMPAIRED INTELLECTUAL DEVELOPMENT 1

Gene (location): Gene(s) directly associated with this condition or phenotype.	CNNM2 (10q24.32)

Monarch Initiative:	MONDO:0020787
OMIM®:	616418

Definition

HOMGSMR1 is characterized by onset of seizures associated with low serum magnesium in the first year of life. Affected individuals show variable degrees of delayed psychomotor development (summary by Arjona et al., 2014). Genetic Heterogeneity of Hypomagnesemia, Seizures, and Mental Retardation HOMGSMR2 (618314) is caused by mutation in the ATP1A1 gene (182310) on chromosome 1p13. [from OMIM]

Clinical features

From HPO

Seizure

MedGen UID:: 20693
•Concept ID:: C0036572
•: Sign or Symptom

A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

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Global developmental delay

MedGen UID:: 107838
•Concept ID:: C0557874
•: Finding

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

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Absent speech

MedGen UID:: 340737
•Concept ID:: C1854882
•: Finding

Complete lack of development of speech and language abilities.

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

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Microcephaly

MedGen UID:: 1644158
•Concept ID:: C4551563
•: Finding

Head circumference below 2 standard deviations below the mean for age and gender.

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Hypomagnesemia

MedGen UID:: 57481
•Concept ID:: C0151723
•: Disease or Syndrome

An abnormally decreased magnesium concentration in the blood.

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Abnormality of metabolism/homeostasis
- Hypomagnesemia
Abnormality of the musculoskeletal system
- Microcephaly
Abnormality of the nervous system

Recent clinical studies

Diagnosis

SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.

Scholl UI, Dave HB, Lu M, Farhi A, Nelson-Williams C, Listman JA, Lifton RP
Pediatr Nephrol 2012 Nov;27(11):2081-2090. Epub 2012 Aug 21 doi: 10.1007/s00467-012-2219-4. PMID: 22907601

See all (1)

Prognosis

SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.

Scholl UI, Dave HB, Lu M, Farhi A, Nelson-Williams C, Listman JA, Lifton RP
Pediatr Nephrol 2012 Nov;27(11):2081-2090. Epub 2012 Aug 21 doi: 10.1007/s00467-012-2219-4. PMID: 22907601

See all (1)

Clinical prediction guides

SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.

Scholl UI, Dave HB, Lu M, Farhi A, Nelson-Williams C, Listman JA, Lifton RP
Pediatr Nephrol 2012 Nov;27(11):2081-2090. Epub 2012 Aug 21 doi: 10.1007/s00467-012-2219-4. PMID: 22907601

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.

Scholl UI, Choi M, Liu T, Ramaekers VT, Häusler MG, Grimmer J, Tobe SW, Farhi A, Nelson-Williams C, Lifton RP
Proc Natl Acad Sci U S A 2009 Apr 7;106(14):5842-7. Epub 2009 Mar 16 doi: 10.1073/pnas.0901749106. PMID: 19289823 Free PMC Article

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Hypomagnesemia, seizures, and intellectual disability 1(HOMGSMR1)

Definition

Clinical features

Recent clinical studies

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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