TaoMedAI/RareMedData huggingface dataset:
Gene: DEPDC5
Phenotype: Hyperventilation (HP:0002883)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Convulsive status epilepticus (HP:0032660)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Increased theta frequency activity in EEG (HP:0031535)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Low-set ears (HP:0000369)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: EEG with focal spikes (HP:0011193)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: EEG with focal epileptiform discharges (HP:0011185)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: EEG with focal epileptiform discharges (HP:0011185)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: Focal hyperkinetic seizure (HP:0011174)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Focal autonomic seizure (HP:0011154)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: DEPDC5
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: DEPDC5
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: DEPDC5
Phenotype: Long eyelashes (HP:0000527)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Visual impairment (HP:0000505)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Gene: DEPDC5
Phenotype: Pain (HP:0012531)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NUP93
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP93
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROTIC SYNDROME, TYPE 12 (OMIM:616892)
Gene: NUP93
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP93
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: NEPHROTIC SYNDROME, TYPE 12 (OMIM:616892)
Gene: NUP93
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP93
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP93
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 12 (OMIM:616892)
Gene: NUP93
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP93
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP93
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP93
Phenotype: Progressive (HP:0003676)
Associated disease: NEPHROTIC SYNDROME, TYPE 12 (OMIM:616892)
Gene: NUP93
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP93
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP93
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: NEPHROTIC SYNDROME, TYPE 12 (OMIM:616892)
Gene: NUP93
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP93
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP93
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP93
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP93
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP93
Phenotype: Hematuria (HP:0000790)
Associated disease: NEPHROTIC SYNDROME, TYPE 12 (OMIM:616892)
Gene: NUP93
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP93
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP93
Phenotype: Steroid-resistant nephrotic syndrome (HP:0012588)
Associated disease: NEPHROTIC SYNDROME, TYPE 12 (OMIM:616892)
Gene: NUP93
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: UBE3C
Phenotype: Limb dystonia (HP:0002451)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Bilateral coxa valga (HP:0010665)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Mutism (HP:0002300)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Hypodontia (HP:0000668)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Hyperactivity (HP:0000752)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Obesity (HP:0001513)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: UBE3C
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES (OMIM:620270)
Gene: PRORP
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Hypertonia (HP:0001276)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Hemiparesis (HP:0001269)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Areflexia (HP:0001284)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Periventricular nodular heterotopia (HP:0032388)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Tonic pupil (HP:0012074)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Tremor (HP:0001337)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Scoliosis (HP:0002650)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Asthenia (HP:0025406)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Myalgia (HP:0003326)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Migraine (HP:0002076)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Memory impairment (HP:0002354)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Headache (HP:0002315)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Absence of acoustic reflex (HP:0008529)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Retrobulbar optic neuritis (HP:0100654)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Autistic behavior (HP:0000729)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Psychosis (HP:0000709)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Thrombophlebitis (HP:0004418)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Epicanthus (HP:0000286)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Obesity (HP:0001513)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Hemianopia (HP:0012377)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Tachycardia (HP:0001649)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Microretrognathia (HP:0000308)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: PRORP
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Gene: RAPGEF2
Phenotype: Seizure (HP:0001250)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7 (OMIM:618075)
Gene: RAPGEF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7 (OMIM:618075)
Gene: RAPGEF2
Phenotype: Adult onset (HP:0003581)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7 (OMIM:618075)
Gene: RAPGEF2
Phenotype: Myoclonic tremor (HP:0033054)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7 (OMIM:618075)
Gene: PUM1
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Hypospadias (HP:0000047)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)