Cytoscape Web
Click node...

MULIBREY nanism
1 OMIM reference -
1 associated gene
14 connected diseases
9 signs/symptoms
Disease Type of connection
Autosomal dominant hypohidrotic ectodermal dysplasia
Herpetic encephalitis
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Melanoma of soft part
Microcephaly - seizures - developmental delay
16q24.3 microdeletion syndrome
Ataxia - oculomotor apraxia type 1
Autosomal recessive primary microcephaly
Estrogen resistance syndrome
Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
KBG syndrome
Synonym(s):
- MULIBREY dwarfism
- Muscle-liver-brain-eye nanism
- Perheentupa syndrome
- Pericardial constriction - growth failure
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: elderly
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
2 MeSH references: C538604 / D050336
Gene symbol UniProt reference OMIM reference
TRIM37 O94972605073
Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Areflexia / hyporeflexia
- Autosomal recessive inheritance
- Intrauterine growth retardation
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Short stature / dwarfism / nanism
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy

Frequent
- Broad nasal root
- Hepatomegaly / liver enlargement (excluding storage disease)