{"Name":"PSAT deficiency","DiseaseID__c":"GARD:0013273","id":13273,"encodedName":"psat-deficiency","IsDeleted":false,"Disease_Name_Full__c":"PSAT deficiency","Xref_IDs__c":"718603002; C1970253; C567032; DOID:0050723; MEDGEN:410026; MONDO:0012596; OMIM:610992; ORPHA:284417","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012596","Disease_Description__c":"A rare form of serine deficiency syndrome characterized clinically by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.","GARD_Name__c":"PSAT deficiency","GARD_Synonym__c":"deficiency of phosphoserine aminotransferase; phosphoserine aminotransferase deficiency; phosphoserine aminotransferase deficiency, infantile/juvenile form; psat deficiency, infantile/juvenile form","Curated_Disease_Description_Source__c":"MEDGEN:C1970253","Curated_Disease_Description__c":"Deficiency of phosphoserine aminotransferase (PSAT) is characterized biochemically by low plasma and cerebrospinal fluid (CSF) concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. Outcome is poor once the individual becomes symptomatic, but treatment with serine and glycine supplementation from birth can lead to a normal outcome (Hart et al., 2007).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:284417","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012596","ORPHANET_ID__c":"ORPHA:284417","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de fosfoserina aminotransferasa, forma infantil/juvenil","Spanish_Description_Source__c":"ORPHA:284417","Spanish_Description__c":"El déficit de fosfoserina aminotransferasa es una forma extremadamente poco frecuente del síndrome de déficit de serina (consulte este término) que se caracteriza clínicamente en los dos casos registrados hasta la fecha por microcefalia adquirida, retraso psicomotor, convulsiones intratables e hipertonía.","Spanish_Disease_Name__c":"deficiencia de fosfoserina aminotransferasa, forma infantil/juvenil","Spanish_GARD_Synonym__c":"deficiencia de psat, forma infantil/juvenil","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Deficiency of phosphoserine aminotransferase (PSAT) is characterized biochemically by low plasma and cerebrospinal fluid (CSF) concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. Outcome is poor once the individual becomes symptomatic, but treatment with serine and glycine supplementation from birth can lead to a normal outcome (Hart et al., 2007).","Curated_Disease_Description_Source__c":"MEDGEN:C1970253","GARD_Synonym__c":"deficiency of phosphoserine aminotransferase; phosphoserine aminotransferase deficiency; phosphoserine aminotransferase deficiency, infantile/juvenile form; psat deficiency, infantile/juvenile form","Name":"PSAT deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:284417"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:284417"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1970253"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013273","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK592681","Source__c":"Gene Review","Xref__c":"NBK592681"},{"URL__c":"https://www.orpha.net/en/disease/detail/284417","Source__c":"C1970253; MONDO:0012596; ORPHA:284417","Xref__c":"ORPHA:284417"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1970253","Source__c":"C1970253","Xref__c":"C1970253"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050723","Source__c":"MONDO:0012596","Xref__c":"DOID:0050723"},{"URL__c":"https://www.omim.org/entry/610992","Source__c":"C1970253; MONDO:0012596; ORPHA:284417","Xref__c":"OMIM:610992"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718603002","Source__c":"C1970253; MONDO:0012596","Xref__c":"718603002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=410026","Source__c":"C1970253","Xref__c":"MEDGEN:410026"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567032","Source__c":"MONDO:0012596","Xref__c":"C567032"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012596","Source__c":"GARD:0013273","Xref__c":"MONDO:0012596"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PSAT1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Feeding problem necessitating gastrostomy tube feeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011471","HPO_Name__c":"Gastrostomy tube feeding in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011097","HPO_Synonym__c":"Epileptic spasms; Salaam convulsion; Salaam convulsions; Salaam seizure; Salaam seizures","HPO_Name__c":"Epileptic spasm","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the vermis of cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001320","HPO_Synonym__c":"Cerebellar vermal hypoplasia; Hypoplasia of the cerebellar vermis; Hypoplastic cerebellar vermis","HPO_Name__c":"Cerebellar vermis hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000340","HPO_Synonym__c":"Inclined forehead; Posteriorly sloping forehead; Receding forehead; Sloping forehead","HPO_Name__c":"Sloping forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003121","HPO_Synonym__c":"Limb contractures","HPO_Name__c":"Limb joint contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Delayed myelination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012448","HPO_Name__c":"Delayed myelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the cerebral white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012430","HPO_Name__c":"Cerebral white matter hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001531","HPO_Synonym__c":"Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy","HPO_Name__c":"Failure to thrive in infancy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A profound delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012736","HPO_Synonym__c":"Global developmental delay, profound","HPO_Name__c":"Profound global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden-onset episode of abnormal, involuntary eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007704","HPO_Synonym__c":"Abnormal eye movements, paroxysmal","HPO_Name__c":"Paroxysmal involuntary eye movements","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000474","HPO_Synonym__c":"Excess nuchal skin; Increased nuchal fold; Increased nuchal fold thickness; Thick nuchal fold; Thickened nuchal skin; Thickened skin folds of neck; Thickened skin over the neck","HPO_Name__c":"Thickened nuchal skin fold","HPO_Feature_Type__c":"Imaging_Ultrasound_Fetal"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002079","HPO_Synonym__c":"Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum","HPO_Name__c":"Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011451","HPO_Synonym__c":"Congenital decreased head circumference; Congenital microcephaly; Congenital small skull; Decreased head circumference present at birth; Microcephaly present at birth; Small cranium present at birth","HPO_Name__c":"Primary microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040288","HPO_Name__c":"Nasogastric tube feeding","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006466","HPO_Name__c":"Ankle flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"EEG with focal sharp transient waves of a duration between 80 and 200 msec.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011196","HPO_Name__c":"EEG with focal sharp waves","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200048","HPO_Name__c":"Cyanotic episode","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Uncontrolled episodes of crying occur without any apparent motivating stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030215","HPO_Synonym__c":"Cry frequently for no reason; Cry frequently without apparent cause; Cry frequently without cause; Cry frequently without reason; Frequently cries for no reason; Frequently cries without apparent cause; Frequently cries without cause; Frequently cries without reason; Inappropriate crying","HPO_Name__c":"Inappropriate crying","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Spastic weakness affecting all four limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001285","HPO_Synonym__c":"Spastic quadriparesis","HPO_Name__c":"Spastic tetraparesis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006380","HPO_Synonym__c":"Flexion contracture of knees; Flexion contractures at both knees; Flexion contractures of knees; Flexion deformity of the knee; Knee flexion contractures; Knee flexion deformity","HPO_Name__c":"Knee flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001363","HPO_Synonym__c":"Cranial suture synostosis; Craniosyostosis; Early fusion of cranial sutures; Premature closure of cranial sutures; Premature suture closure","HPO_Name__c":"Craniosynostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009879","HPO_Synonym__c":"Cortical gyral simplification","HPO_Name__c":"Simplified gyral pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of complexes of repetitive spikes and waves in EEG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002392","HPO_Synonym__c":"EEG: spike and multispike waves, 3-4 hz","HPO_Name__c":"EEG with polyspike wave complexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001339","HPO_Synonym__c":"Fewer or absent grooves in brain","HPO_Name__c":"Lissencephaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bilateral clubfoot deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001776","HPO_Synonym__c":"Bilateral clubfeet; Bilateral clubfoot; Club foot on both sides","HPO_Name__c":"Bilateral talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005280","HPO_Synonym__c":"Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge","HPO_Name__c":"Depressed nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006956","HPO_Synonym__c":"Dilatation of lateral cerebral ventricles; Dilation of lateral ventricles; Enlarged lateral ventricles; Lateral ventricle dilatation","HPO_Name__c":"Lateral ventricle dilatation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001336","HPO_Synonym__c":"Myoclonic jerks","HPO_Name__c":"Myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced concentration of serine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012279","HPO_Synonym__c":"Low blood serine levels","HPO_Name__c":"Hyposerinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated concentration of glycine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002154","HPO_Synonym__c":"Elevated blood glycine levels; Hyperglycinaemia","HPO_Name__c":"Hyperglycinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008064","HPO_Synonym__c":"Ichthyosiform abnormality of the skin; Ichthyotic skin","HPO_Name__c":"Ichthyosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284417","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008936","HPO_Synonym__c":"Low muscle tone in trunk; Muscular hypotonia of the trunk; Truncal hypotonia","HPO_Name__c":"Axial hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["deficiency of phosphoserine aminotransferase"," phosphoserine aminotransferase deficiency"," phosphoserine aminotransferase deficiency, infantile/juvenile form"," psat deficiency, infantile/juvenile form"]}