PSPH deficiency
serine deficiency that has material basis in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine
Facts
8 properties- Instance of
- rare disease, class of disease[4]
- Subclass of
- serine deficiency, genetic syndromic intellectual disability
- Age of onset
- infantile onset[8]
- Has phenotype
- global developmental delay, intrauterine growth restriction, Postnatal growth retardation, moderate mental retardation, feeding difficulties, hypospadias, macrostomia, Full cheeks, Broad forehead, micrognathism, hypertonia, abnormal facial shape, tonic–clonic seizure, palpebral edema, esophagitis, microcephaly[10][11][12][13][14][15][16][17][18][19][20][21][22][23]
- ICD-9-CM
- 277.6[6]
- On focus list of Wikimedia project
- WikiProject Medicine[9]
- Prevalence
- +0.000001[5]
🏷️ Also known as
en 3-phosphoserine phosphatase deficiency
en Phosphoserine phosphatase deficiency
en PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD
en PSPHD
en PSPH deficiency
fr déficit en 3-phosphosérine phosphatase
🔖 Identifiers · 10
- Disease Ontology ID
- DOID:0050724
- Exact match
- purl.obolibrary.org, identifiers.org, www.orpha.net
- ICD-10-CM
- E72.8
- KEGG ID
- H02116
- Mondo ID
- MONDO_0013531
- OMIM ID
- 614023
- Orphanet ID
- 79350
- Raras disease ID
- D79350
- UMLS CUI
- C1291463
- UniProt disease ID
- DI-00010
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