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MCID: LNG104
MIFTS: 16
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Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia
Categories:
Genetic diseases
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MalaCards integrated aliases for Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia:
Name: Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia
57
75
6
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in early childhood three unrelated families have been reported (last curated november 2016) HPO:32
language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia:
Inheritance autosomal recessive inheritance Classifications: |
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OMIM
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57
LADCI is an autosomal recessive neurodevelopmental disorder characterized by severe expressive and receptive language delay apparent from early childhood. Affected individuals have additional developmental or behavioral abnormalities, including attention deficit, hyperactivity, or mild intellectual disability. Some patients develop cardiac arrhythmias reminiscent of sick sinus syndrome (summary by Lodder et al., 2016 and Shamseldin et al., 2016). (617182)
MalaCards based summary : Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia, is also known as language delay and adhd/cognitive impairment with or without cardiac arrhythmia. An important gene associated with Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia is GNB5 (G Protein Subunit Beta 5). Related phenotypes are delayed speech and language development and intellectual disability UniProtKB/Swiss-Prot : 75 Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia: An autosomal recessive neurodevelopmental disorder characterized by speech impairment and variable expressivity of attention deficit hyperactivity disorder. Some patients manifest developmental and motor delay, hypotonia, and sinus-node dysfunction. |
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617182Human phenotypes related to Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia:32 (show all 7)
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Genes related to Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia:75
ClinVar genetic disease variations for Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia:6
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Search
GEO
for disease gene expression data for Language Delay and Attention Deficit-Hyperactivity Disorder/cognitive Impairment with or Without Cardiac Arrhythmia.
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