ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
29 signs/symptoms

Pseudohypoaldosteronism type 2E

Mandibulofacial dysostosis-microcephaly syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	EFTUD2

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Mandibulofacial dysostosis-microcephaly syndrome
	Synonym(s): - PHA2E		Synonym(s): - Growth delay - intellectual deficit - mandibulofacial dysostosis - microcephaly - cleft palate - MFDM syndrome - Mandibulofacial dysostosis, Guion-Almeida type

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal 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 circulatory system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - 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: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Mandibulofacial dysostosis-microcephaly syndrome
	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 - Autosomal recessive inheritance - 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 - Sensorineural deafness / hearing loss
Pseudohypoaldosteronism type 2E
(no data available)