3-phosphoserine phosphatase deficiency

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).



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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: 18

HPO ID Term Frequency
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0002342 Intellectual disability, moderate Frequent (79-30%)
HP:0008897 Postnatal growth retardation Frequent (79-30%)
HP:0011968 Feeding difficulties Frequent (79-30%)
HP:0012279 Hyposerinemia Frequent (79-30%)
HP:0000047 Hypospadias Occasional (29-5%)
HP:0000154 Wide mouth Occasional (29-5%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000293 Full cheeks Occasional (29-5%)
HP:0000337 Broad forehead Occasional (29-5%)
HP:0000341 Narrow forehead Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0001276 Hypertonia Occasional (29-5%)
HP:0001999 Abnormal facial shape Occasional (29-5%)
HP:0002020 Gastroesophageal reflux Occasional (29-5%)
HP:0002069 Generalized tonic-clonic seizures Occasional (29-5%)
HP:0100540 Palpebral edema Occasional (29-5%)
HP:0100633 Esophagitis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
PSPH phosphoserine phosphatase 5723