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MCID: 9P1001
MIFTS: 17
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9p13 Microdeletion Syndrome
Categories:
Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for 9p13 Microdeletion Syndrome:
Characteristics:Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Anatomical: Neuronal diseases Mental diseases
ICD10:
32
Orphanet: 58
Rare neurological diseases
Developmental anomalies during embryogenesis |
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Orphanet: 58 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). MalaCards based summary: 9p13 Microdeletion Syndrome, also known as monosomy 9p13, is related to leukemia, chronic lymphocytic and t-cell prolymphocytic leukemia. Affiliated tissues include skin, and related phenotypes are wide nasal bridge and anteverted nares |
Diseases related to 9p13 Microdeletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to 9p13 Microdeletion Syndrome:58 30 (show all 32)
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Genetic tests related to 9p13 Microdeletion Syndrome:
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Organs/tissues related to 9p13 Microdeletion Syndrome:
MalaCards :
Skin
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Search
GEO
for disease gene expression data for 9p13 Microdeletion Syndrome.
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