Synonym(s): - Del(14)(q12) - Monosomy 14q12
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: (no data available)		External references: No OMIM references No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
FOXG1	P55316	164874

- 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

- 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