TaoMedAI/RareMedData huggingface dataset:
Gene: RGS5
Phenotype: Elevated systolic blood pressure (HP:0004421)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: RGS5
Phenotype: Elevated diastolic blood pressure (HP:0005117)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: PRSS12
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 (OMIM:249500)
Gene: PRSS12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 (OMIM:249500)
Gene: PRSS12
Phenotype: Babinski sign (HP:0003487)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 (OMIM:249500)
Gene: PRSS12
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 (OMIM:249500)
Gene: PRSS12
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 (OMIM:249500)
Gene: PRSS12
Phenotype: Nystagmus (HP:0000639)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 (OMIM:249500)
Gene: PRSS12
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 (OMIM:249500)
Gene: PRSS12
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 (OMIM:249500)
Gene: PPM1D
Phenotype: Brachydactyly (HP:0001156)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Central diaphragmatic hernia (HP:0025195)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Hypotonia (HP:0001252)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Parietal foramina (HP:0002697)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: PPM1D
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Wide mouth (HP:0000154)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: PPM1D
Phenotype: Recurrent infections (HP:0002719)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Constipation (HP:0002019)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Vomiting (HP:0002013)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Broad-based gait (HP:0002136)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Small hand (HP:0200055)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Hyperacusis (HP:0010780)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Short stature (HP:0004322)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: PPM1D
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Anxiety (HP:0000739)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Autistic behavior (HP:0000729)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Low-set ears (HP:0000369)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Broad forehead (HP:0000337)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Strabismus (HP:0000486)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Small nail (HP:0001792)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Anteverted nares (HP:0000463)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Short foot (HP:0001773)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPM1D
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Hypermetropia (HP:0000540)
Associated disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Gene: PPM1D
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPM1D
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPFIBP1
Phenotype: CNS demyelination (HP:0007305)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Neonatal death (HP:0003811)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Pachygyria (HP:0001302)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Blake's pouch cyst (HP:0033140)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Frontal polymicrogyria (HP:0006821)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Coronary artery fistula (HP:0011641)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Tonic seizure (HP:0032792)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PPFIBP1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Gene: PEX3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
Phenotype: Areflexia (HP:0001284)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
Phenotype: Seizure (HP:0001250)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)