ODCs

Click node...

1 OMIM reference -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Frontonasal dysplasia with alopecia and genital anomaly

Recurrent infection due to specific granule deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ALX4	(0.63)	CEBPE

Citations in the biomedical literature:

Frontonasal dysplasia with alopecia and genital anomaly		Recurrent infection due to specific granule deficiency
	Synonym(s): - ALX4-related FNDAG - Craniofrontonasal dysplasia with alopecia and hypogonadism - Frontonasal dysplasia with alopecia and genital abnomality		Synonym(s): - Neutrophil-specific granule deficiency

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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

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

Frontonasal dysplasia with alopecia and genital anomaly
	Very frequent - Alopecia - Anteverted nares / nostrils - Autosomal recessive inheritance - Bifid skull - Bifid tip / cleft nose / supernumerary nose - Blepharophimosis / short palpebral fissures - Brachycephaly / flat occiput - Depressed nasal bridge - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Nystagmus - Philtrum flat / large / featureless / absent cupidon bows - Scalp / skull defect - Strabismus / squint - Telecanthus / canthal dystopy - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Corpus callosum / septum pellucidum total / partial agenesis - Fine hair - Frontal bossing / prominent forehead - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Intrauterine growth retardation - Low set ears / posteriorly rotated ears - Oligoamnios - Tooth shape anomaly
Recurrent infection due to specific granule deficiency
(no data available)