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70 OMIM references -
63 associated genes
29 signs/symptoms
PROTEIN INTERACTIONS: 3
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
29 signs/symptoms
Retinitis pigmentosa
Mandibulofacial dysostosis-microcephaly syndrome

ABCA4 EFTUD2
AIPL1
ARL2BP
ARL6
BEST1
C2ORF71
C8ORF37
CA4
CDHR1
CERKL
CLRN1
CNGA1
CNGB1
CRB1
CRX
CYP4V2
DHDDS
EYS
FAM161A
FSCN2
GUCA1B
IDH3B
IMPDH1
IMPG2
KLHL7
LRAT
MAK
MERTK
NEK2
NR2E3
NRL
OFD1
PDE6A
PDE6B
PDE6G
PRCD
PROM1
PRPF3
PRPF31
PRPF6
PRPF8
PRPH2
RBP3
RDH12
RGR
RHO
RLBP1
ROM1
RP1
RP1L1
RP2
RP9
RPE65
RPGR
SAG
SEMA4A
SNRNP200
SPATA7
TOPORS
TTC8
TULP1
USH2A
ZNF513


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PRPF8
SNRNP200
PRPF6
(0.89)
(0.73)
(0.63)
EFTUD2
EFTUD2
EFTUD2



Citations in the biomedical literature:


Retinitis pigmentosa
ABCA4 AIPL1 ARL2BP ARL6 BEST1 C2ORF71
C8ORF37 CA4 CDHR1 CERKL CLRN1 CNGA1
CNGB1 CRB1 CRX CYP4V2 DHDDS EYS
FAM161A FSCN2 GUCA1B IDH3B IMPDH1 IMPG2
KLHL7 LRAT MAK MERTK NEK2 NR2E3
NRL OFD1 PDE6A PDE6B PDE6G PRCD
PROM1 PRPF3 PRPF31 PRPF6 PRPF8 PRPH2
RBP3 RDH12 RGR RHO RLBP1 ROM1
RP1 RP1L1 RP2 RP9 RPE65 RPGR
SAG SEMA4A SNRNP200 SPATA7 TOPORS TTC8
TULP1 USH2A ZNF513
Mandibulofacial dysostosis-microcephaly syndrome
EFTUD2



Retinitis pigmentosa
Mandibulofacial dysostosis-microcephaly syndrome

Synonym(s):
(no synonyms)

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

Classification (Orphanet):
- Rare eye disease
- Rare genetic 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: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
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:
70 OMIM references -
1 MeSH reference: D012174
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Autosomal recessive inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Sensorineural deafness / hearing loss


Retinitis pigmentosa
Mandibulofacial dysostosis-microcephaly syndrome

Very frequent
- Abnormal ERG / electroretinogram / electroretinography
- Abnormal scarring / cheloids / hypertrophic scars
- Anteverted nares / nostrils
- Autosomal dominant inheritance
- Broad nasal root
- Conductive deafness / hearing loss
- Late puberty / hypogonadism / hypogenitalism
- Micropenis / small penis / agenesis
- Mild visual loss / impaired visual acuity
- Night blindness / hemeralopia
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Photophobia
- Retinal vascular anomalies / retinal telangiectasia
- Retinitis pigmentosa / retinal pigmentary changes
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Visual loss / blindness / amblyopia
- X-linked recessive inheritance

Frequent
- Cataract / lens opacification
- Generalized obesity
- Glaucoma
- Hyperinsulinism / hyperinsulinemia
- Keratoconus / keratoglobus
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy

Occasional
- Hypereflexia
- Insulin-independent / type 2 diabetes


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
- 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