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14q12 microdeletion syndrome
1 associated gene
30 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 5
Atypical Rett syndrome
3 OMIM references -
4 associated genes
24 signs/symptoms
14q12 microdeletion syndrome
Atypical Rett syndrome

FOXG1
(UniProt - OMIM)
 CDKL5
(UniProt - OMIM)
FOXG1
(UniProt - OMIM)
MECP2
(UniProt - OMIM)
NTNG1
(UniProt - OMIM)

COMMON
GENES 		FOXG1


Citations in the biomedical literature:


14q12 microdeletion syndrome
FOXG1
Atypical Rett syndrome
CDKL5 MECP2 NTNG1



14q12 microdeletion syndrome
Atypical Rett syndrome

Synonym(s):
- Del(14)(q12)
- Monosomy 14q12
Synonym(s):
- Atypical RTT
- Rett syndrome variant
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
3 OMIM references -
No MeSH references
COMMON
SIGNS 		- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large / bulbous nose
- Microcephaly
- Seizures / epilepsy / absences / spasms / status epilepticus

14q12 microdeletion syndrome
Atypical Rett 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
- 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
- Hyperkinesia / dyskinesia
- Hypersialorrhea
- Kyphosis
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Philtrum flat / large / featureless / absent cupidon bows
- Prognathism / prognathia
- Prominent metopic suture
- Puffy eyelids
- Scoliosis
- Short / small nose



Very frequent
- Anomalies of ear and hearing
- Antitragus abnormal
- Camptodactyly of some fingers
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Clinodactyly of fifth finger
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dilated cerebral ventricles without hydrocephaly
- Dysplastic / thick / grooved fingernails
- EEG anomalies
- Fine hair
- Hearing loss / hypoacusia / deafness
- Hypertonia / spasticity / rigidity / stiffness
- Long philtrum
- Macrostomia / big mouth
- Metacarpal anomalies / Archibald's sign
- Movement disorder
- Thick lips
- Thin / hypoplastic ala nasi
- Urinary / renal lithiasis / kidney stones / nephritic colic