Prominent glabella-microcephaly-hypogenitalism syndrome

Prominent glabella – microcephaly – hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.



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Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 31

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000046 Scrotal hypoplasia Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000268 Dolichocephaly Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000358 Posteriorly rotated ears Very frequent (99-80%)
HP:0000396 Overfolded helix Very frequent (99-80%)
HP:0000400 Macrotia Very frequent (99-80%)
HP:0000426 Prominent nasal bridge Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001276 Hypertonia Very frequent (99-80%)
HP:0001510 Growth delay Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0002057 Prominent glabella Very frequent (99-80%)
HP:0002553 Highly arched eyebrow Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0006610 Wide intermamillary distance Very frequent (99-80%)
HP:0008736 Hypoplasia of penis Very frequent (99-80%)
HP:0010720 Abnormal hair pattern Very frequent (99-80%)
HP:0012745 Short palpebral fissure Very frequent (99-80%)
HP:0100543 Cognitive impairment Very frequent (99-80%)
HP:0000126 Hydronephrosis Frequent (79-30%)
HP:0000430 Underdeveloped nasal alae Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000474 Thickened nuchal skin fold Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001608 Abnormality of the voice Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0007598 Bilateral single transverse palmar creases Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)


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