X-linked intellectual disability, Cilliers type

X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).



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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: 25

HPO ID Term Frequency
HP:0000026 Male hypogonadism Very frequent (99-80%)
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000336 Prominent supraorbital ridges Very frequent (99-80%)
HP:0000400 Macrotia Very frequent (99-80%)
HP:0000426 Prominent nasal bridge Very frequent (99-80%)
HP:0000490 Deeply set eye Very frequent (99-80%)
HP:0000815 Hypergonadotropic hypogonadism Very frequent (99-80%)
HP:0000837 Increased circulating gonadotropin level Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0001508 Failure to thrive Very frequent (99-80%)
HP:0001792 Small nail Very frequent (99-80%)
HP:0001999 Abnormal facial shape Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0004440 Coronal craniosynostosis Very frequent (99-80%)
HP:0008187 Absence of secondary sex characteristics Very frequent (99-80%)
HP:0008734 Decreased testicular size Very frequent (99-80%)
HP:0040171 Decreased serum testosterone level Very frequent (99-80%)
HP:0200055 Small hand Very frequent (99-80%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000047 Hypospadias Occasional (29-5%)
HP:0000709 Psychosis Occasional (29-5%)
HP:0011999 Paranoia Occasional (29-5%)
HP:0100962 Shyness 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