TaoMedAI/RareMedData huggingface dataset:
Gene: PTPA
Phenotype: Anxiety (HP:0000739)
Associated disease: PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:620482)
Gene: PTPA
Phenotype: Disinhibition (HP:0000734)
Associated disease: PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:620482)
Gene: PTPA
Phenotype: Depression (HP:0000716)
Associated disease: PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:620482)
Gene: PTPA
Phenotype: Restless legs (HP:0012452)
Associated disease: PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:620482)
Gene: PPP2R5D
Phenotype: Poor speech (HP:0002465)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Alternating esotropia (HP:0001137)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Areflexia (HP:0001284)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Seizure (HP:0001250)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Ataxia (HP:0001251)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Absent speech (HP:0001344)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Scoliosis (HP:0002650)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Open mouth (HP:0000194)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Congenital muscular torticollis (HP:0005988)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Congenital muscular torticollis (HP:0005988)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Hypoplastic fifth toenail (HP:0011937)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Short nose (HP:0003196)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Contracture of the proximal interphalangeal joint of the 4th toe (HP:0100350)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Long face (HP:0000276)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: High palate (HP:0000218)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Fatigue (HP:0012378)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Low-set ears (HP:0000369)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Long philtrum (HP:0000343)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Triangular face (HP:0000325)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Astigmatism (HP:0000483)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Strabismus (HP:0000486)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Ptosis (HP:0000508)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP2R5D
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Gene: PPP2R5D
Phenotype: Myopia (HP:0000545)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Gene: PPP3CA
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Cleft palate (HP:0000175)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PPP3CA
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Gene: PPP3CA
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Gene: PPP3CA
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)