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1 OMIM reference -
1 associated gene
35 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

14q12 microdeletion syndrome

1 associated gene
30 signs/symptoms

Myhre syndrome

14q12 microdeletion syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMAD4	(0.52)	FOXG1

Citations in the biomedical literature:

Myhre syndrome		14q12 microdeletion syndrome
	Synonym(s): - Facial dysmorphism - intellectual deficit - short stature - hearing loss		Synonym(s): - Del(14)(q12) - Monosomy 14q12

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: No OMIM references No MeSH references


COMMON SIGNS	- Blepharophimosis / short palpebral fissures - Intellectual deficit / mental / psychomotor retardation / learning disability - Prognathism / prognathia

Myhre syndrome		14q12 microdeletion syndrome
	Very frequent - Anomalies of the ribs - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Hearing loss / hypoacusia / deafness - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Intrauterine growth retardation - Microstomia / little mouth - Mid-facial hypoplasia / short / small midface - Muscle hypertrophy - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Short philtrum - Short stature / dwarfism / nanism - Thin / retracted lips Frequent - Abnormal EMG / electromyogram / electropmyography - Cardiac septal defect - Chronic arterial hypertension - Epiphyseal anomaly - Hypermetropia - Metaphyseal anomaly - Ptosis - Thick skin / pachydermia / orange skin - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Cataract / lens opacification - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Late puberty / hypogonadism / hypogenitalism - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Precocious puberty - Psychic / behavioural troubles		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 - 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 - 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 - Prominent metopic suture - Puffy eyelids - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Short / small nose