Genitopalatocardiac syndrome

Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.



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

Phenotype(s) retrieved from Orphanet

    Total: 25

HPO ID Term Frequency
HP:0000037 Male pseudohermaphroditism Very frequent (99-80%)
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0001671 Abnormal cardiac septum morphology Very frequent (99-80%)
HP:0002564 obsolete Malformation of the heart and great vessels Very frequent (99-80%)
HP:0100335 Non-midline cleft lip Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000047 Hypospadias Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0008668 Gonadal dysgenesis, male Frequent (79-30%)
HP:0000003 Multicystic kidney dysplasia Occasional (29-5%)
HP:0000238 Hydrocephalus Occasional (29-5%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000431 Wide nasal bridge Occasional (29-5%)
HP:0000776 Congenital diaphragmatic hernia Occasional (29-5%)
HP:0001156 Brachydactyly Occasional (29-5%)
HP:0001162 Postaxial hand polydactyly Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002714 Downturned corners of mouth Occasional (29-5%)
HP:0002808 Kyphosis Occasional (29-5%)
HP:0005264 Abnormality of the gallbladder Occasional (29-5%)
HP:0100016 Abnormality of mesentery morphology Occasional (29-5%)


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