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3 OMIM references -
3 associated genes
15 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
29 signs/symptoms
Usher syndrome type 3
Mandibulofacial dysostosis-microcephaly syndrome

CLRN1 EFTUD2
HARS
MT-TS2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HARS
MT-TS2
(0.63)
(0.63)
EFTUD2
EFTUD2



Citations in the biomedical literature:


Usher syndrome type 3
CLRN1 HARS MT-TS2
Mandibulofacial dysostosis-microcephaly syndrome
EFTUD2



Usher syndrome type 3
Mandibulofacial dysostosis-microcephaly syndrome

Synonym(s):
- USH3

Synonym(s):
- Growth delay - intellectual deficit - mandibulofacial dysostosis - microcephaly - cleft palate
- MFDM syndrome
- Mandibulofacial dysostosis, Guion-Almeida type

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal recessive inheritance
- Sensorineural deafness / hearing loss


Usher syndrome type 3
Mandibulofacial dysostosis-microcephaly syndrome

Very frequent
- Abnormal ERG / electroretinogram / electroretinography
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Night blindness / hemeralopia
- Retinitis pigmentosa / retinal pigmentary changes
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals
- Visual loss / blindness / amblyopia

Frequent
- Astigmatism
- Ataxia / incoordination / trouble of the equilibrium
- Cataract / lens opacification
- Hypermetropia

Occasional
- Delirium / hallucination
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Psychosis / schizophrenia / maniac disorder


Very frequent
- Antihelix anomaly
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Preauricular / branchial tags / appendages
- Prominent / bat ears
- Short stature / dwarfism / nanism
- Short / small nose
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tragus abnormal / absent
- Trigonocephaly
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Frequent
- Epicanthic folds
- External auditory canal atresia / stenosis / agenesis
- Folded helix
- Limited opening of the mouth
- Oral synechiae / abnormal frenulae
- Preaxial polydactyly (hand)
- Telecanthus / canthal dystopy
- Thick / wide ear lobe

Occasional
- Atrial septal defect / interauricular communication
- Seizures / epilepsy / absences / spasms / status epilepticus