TaoMedAI/RareMedData huggingface dataset:
Gene: PCDH19
Phenotype: Anxiety (HP:0000739)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Anxiety (HP:0000739)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Short attention span (HP:0000736)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Psychosis (HP:0000709)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Psychosis (HP:0000709)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Facial tics (HP:0011468)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Epilepsia partialis continua (HP:0012847)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Pallor (HP:0000980)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Pes valgus (HP:0008081)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Convulsive status epilepticus (HP:0032660)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Focal sensory seizure with cephalic sensation (HP:0032810)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 (OMIM:300088)
Gene: PCDH19
Phenotype: Status epilepticus without prominent motor symptoms (HP:0031475)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: EEG with focal epileptiform discharges (HP:0011185)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Complex febrile seizure (HP:0011172)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Complex febrile seizure (HP:0011172)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Juberg-Hellman syndrome; Female restricted epilepsy with intellectual disability; EFMR (ORPHA:101039)
Gene: PCDH19
Phenotype: Limited neck range of motion (HP:0000466)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: PCDH19
Phenotype: Pes planus (HP:0001763)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: HACE1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Seizure (HP:0001250)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Seizure (HP:0001250)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Ataxia (HP:0001251)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Ataxia (HP:0001251)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Spasticity (HP:0001257)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Absent pubertal growth spurt (HP:0031087)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Inability to walk (HP:0002540)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Waddling gait (HP:0002515)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Exophoria (HP:0025313)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Dystonia (HP:0001332)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Dystonia (HP:0001332)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Bone pain (HP:0002653)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Abnormality of the musculature of the lower limbs (HP:0001437)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Elevated circulating catecholamine level (HP:0003334)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Opsoclonus (HP:0010543)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Horner syndrome (HP:0002277)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Puberty and gonadal disorders (HP:0008373)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Elevated urinary catecholamine level (HP:0011976)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Elevated urinary homovanillic acid (HP:0011977)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Elevated urinary vanillylmandelic acid (HP:0011978)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Fasciculations (HP:0002380)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Developmental regression (HP:0002376)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Anemic pallor (HP:0001017)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Fever (HP:0001945)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Anemia (HP:0001903)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Short stature (HP:0004322)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Short stature (HP:0004322)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Antalgic gait (HP:0031955)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Neoplasm of the nervous system (HP:0004375)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Delayed peripheral myelination (HP:0011401)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Irritability (HP:0000737)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Hypertension (HP:0000822)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Structural foot deformity (HP:0010219)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Periorbital ecchymosis with tarsal plate sparing (HP:0025553)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Obesity (HP:0001513)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Obesity (HP:0001513)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Abdominal mass (HP:0031500)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Fatigue (HP:0012378)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Focal myoclonic seizure (HP:0011166)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Strabismus (HP:0000486)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Proptosis (HP:0000520)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Weight loss (HP:0001824)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: HACE1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: HACE1
Phenotype: Myopia (HP:0000545)
Associated disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome; SPPRS syndrome; Spastic paraplegia-psychomotor retardation-seizures syndrome (ORPHA:464282)
Gene: HACE1
Phenotype: Myopia (HP:0000545)
Associated disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES (OMIM:616756)
Gene: MIB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 7 (OMIM:615092)
Gene: MIB1
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 7 (OMIM:615092)
Gene: MIB1
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: LEFT VENTRICULAR NONCOMPACTION 7 (OMIM:615092)
Gene: ALPK3
Phenotype: Left ventricular diastolic dysfunction (HP:0025168)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Infantile onset (HP:0003593)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Congenital onset (HP:0003577)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Pterygium (HP:0001059)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Third trimester onset (HP:0034197)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)