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14q12 microdeletion syndrome
1 associated gene
30 signs/symptoms
PROTEIN INTERACTIONS: 1
Hyperlipidemia type 3
1 associated gene
No signs/symptoms info
14q12 microdeletion syndrome
Hyperlipidemia type 3

FOXG1
(UniProt - OMIM)
 APOE
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FOXG1
(0.63)
APOE


Citations in the biomedical literature:


14q12 microdeletion syndrome
FOXG1
Hyperlipidemia type 3
APOE



14q12 microdeletion syndrome
Hyperlipidemia type 3

Synonym(s):
- Del(14)(q12)
- Monosomy 14q12
Synonym(s):
- Broad-betalipoproteinemia
- Dyslipidemia type 3
- Familial dysbetalipoproteinemia
- Familial hyperlipoproteinemia type 3
- HLP type 3
- Hyperlipoproteinemia type 3
- Remnant disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: multigenic/multifactorial
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
1 MeSH reference: D006952
14q12 microdeletion syndrome

Very frequent
- Antihelix anomaly
- Depressed nasal bridge
- Epicanthic folds
- Everted lower lip
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large / bulbous nose
- Microcephaly
- Prominent / bat ears
- Psychic / psychomotor regression / dementia / intellectual decline
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tented upper lip
- Tics / stereotypias

Frequent
- Blepharophimosis / short palpebral fissures
- Corpus callosum / septum pellucidum total / partial agenesis
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hyperkinesia / dyskinesia
- Hypersialorrhea
- Kyphosis
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Philtrum flat / large / featureless / absent cupidon bows
- Prognathism / prognathia
- Prominent metopic suture
- Puffy eyelids
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short / small nose



Hyperlipidemia type 3

(no data available)