46,XX disorder of sex development-skeletal anomalies syndrome

46,XX disorder of sex development-skeletal anomalies syndrome is characterised by primary amenorrhoea, ambiguous external genitalia, and bone abnormalities (hypoplasia of the mandibular condyles, hypoplasia of the maxilla, ulnar dislocation of the radial heads, <i>etc</i>.). It has been described in two sisters born to consanguineous parents.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0000061 Ambiguous genitalia, female Obligate (100%)
HP:0000063 Fused labia minora Obligate (100%)
HP:0000347 Micrognathia Obligate (100%)
HP:0000786 Primary amenorrhea Obligate (100%)
HP:0003083 Dislocated radial head Obligate (100%)
HP:0003871 Deformed humerus Obligate (100%)
HP:0007628 Mandibular condyle hypoplasia Obligate (100%)
HP:0010650 Hypoplasia of the premaxilla Obligate (100%)
HP:0040253 Increased size of the clitoris Obligate (100%)
HP:0000130 Abnormality of the uterus Excluded (0%)
HP:0000137 Abnormality of the ovary Excluded (0%)
HP:0000142 Abnormal vagina morphology Excluded (0%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID