TaoMedAI/RareMedData huggingface dataset:
Gene: LRP12
Phenotype: Abnormality of orbicularis oris muscle (HP:3000010)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Abnormality of masseter muscle (HP:3000005)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Brain atrophy (HP:0012444)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Hypercapnia (HP:0012416)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Late young adult onset (HP:0025710)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Gene: LRP12
Phenotype: Weight loss (HP:0001824)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Weight loss (HP:0001824)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Ptosis (HP:0000508)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: LRP12
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: LRP12
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Gene: PSAT1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Spina bifida (HP:0002414)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Hypertonia (HP:0001276)
Associated disease: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY (OMIM:610992)
Gene: PSAT1
Phenotype: Hypertonia (HP:0001276)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Seizure (HP:0001250)
Associated disease: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY (OMIM:610992)
Gene: PSAT1
Phenotype: Seizure (HP:0001250)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY (OMIM:610992)
Gene: PSAT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Decreased CSF serine concentration (HP:0500228)
Associated disease: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY (OMIM:610992)
Gene: PSAT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY (OMIM:610992)
Gene: PSAT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Myoclonus (HP:0001336)
Associated disease: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY (OMIM:610992)
Gene: PSAT1
Phenotype: Myoclonus (HP:0001336)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY (OMIM:610992)
Gene: PSAT1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Cleft palate (HP:0000175)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Apnea (HP:0002104)
Associated disease: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY (OMIM:610992)
Gene: PSAT1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY (OMIM:610992)
Gene: PSAT1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Cyanotic episode (HP:0200048)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Cyanotic episode (HP:0200048)
Associated disease: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY (OMIM:610992)
Gene: PSAT1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY (OMIM:610992)
Gene: PSAT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Decreased CSF glycine concentration (HP:0034390)
Associated disease: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY (OMIM:610992)
Gene: PSAT1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Edema (HP:0000969)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Paroxysmal involuntary eye movements (HP:0007704)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Hyposerinemia (HP:0012279)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Hyposerinemia (HP:0012279)
Associated disease: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY (OMIM:610992)
Gene: PSAT1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Hypoglycinemia (HP:0012277)
Associated disease: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY (OMIM:610992)
Gene: PSAT1
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: High palate (HP:0000218)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Death in infancy (HP:0001522)
Associated disease: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY (OMIM:610992)
Gene: PSAT1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Micrognathia (HP:0000347)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: EEG with focal sharp waves (HP:0011196)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Inappropriate crying (HP:0030215)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Short neck (HP:0000470)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Short neck (HP:0000470)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Cerebral white matter hypoplasia (HP:0012430)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: PSAT deficiency, infantile/juvenile form; Phosphoserine aminotransferase deficiency, infantile/juvenile form (ORPHA:284417)
Gene: PSAT1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY (OMIM:610992)
Gene: PSAT1
Phenotype: Cataract (HP:0000518)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Gene: PSAT1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PSAT1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSAT1
Phenotype: Proptosis (HP:0000520)
Associated disease: NEU-LAXOVA SYNDROME 2 (OMIM:616038)