TaoMedAI/RareMedData huggingface dataset:
Gene: LRRK1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Gene: LRRK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Gene: LRRK1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Gene: LRRK1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Sclerotic vertebral endplates (HP:0004576)
Associated disease: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Gene: LRRK1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Gene: LRRK1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Gene: LRRK1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Gene: LRRK1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLGALT1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: BRAIN SMALL VESSEL DISEASE 3 (OMIM:618360)
Gene: COLGALT1
Phenotype: Seizure (HP:0001250)
Associated disease: BRAIN SMALL VESSEL DISEASE 3 (OMIM:618360)
Gene: COLGALT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: BRAIN SMALL VESSEL DISEASE 3 (OMIM:618360)
Gene: COLGALT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BRAIN SMALL VESSEL DISEASE 3 (OMIM:618360)
Gene: COLGALT1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: BRAIN SMALL VESSEL DISEASE 3 (OMIM:618360)
Gene: COLGALT1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: BRAIN SMALL VESSEL DISEASE 3 (OMIM:618360)
Gene: COLGALT1
Phenotype: Lacunar stroke (HP:0032325)
Associated disease: BRAIN SMALL VESSEL DISEASE 3 (OMIM:618360)
Gene: COLGALT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BRAIN SMALL VESSEL DISEASE 3 (OMIM:618360)
Gene: COLGALT1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: BRAIN SMALL VESSEL DISEASE 3 (OMIM:618360)
Gene: COLGALT1
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BRAIN SMALL VESSEL DISEASE 3 (OMIM:618360)
Gene: COLGALT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: BRAIN SMALL VESSEL DISEASE 3 (OMIM:618360)
Gene: COLGALT1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: BRAIN SMALL VESSEL DISEASE 3 (OMIM:618360)
Gene: PPCS
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PPCS
Phenotype: Hypotonia (HP:0001252)
Associated disease: CARDIOMYOPATHY, DILATED, 2C (OMIM:618189)
Gene: PPCS
Phenotype: Death in childhood (HP:0003819)
Associated disease: CARDIOMYOPATHY, DILATED, 2C (OMIM:618189)
Gene: PPCS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, DILATED, 2C (OMIM:618189)
Gene: PPCS
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: CARDIOMYOPATHY, DILATED, 2C (OMIM:618189)
Gene: PPCS
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PPCS
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: CARDIOMYOPATHY, DILATED, 2C (OMIM:618189)
Gene: PPCS
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PPCS
Phenotype: Infantile onset (HP:0003593)
Associated disease: CARDIOMYOPATHY, DILATED, 2C (OMIM:618189)
Gene: PPCS
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CARDIOMYOPATHY, DILATED, 2C (OMIM:618189)
Gene: PPCS
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 2C (OMIM:618189)
Gene: PPCS
Phenotype: Childhood onset (HP:0011463)
Associated disease: CARDIOMYOPATHY, DILATED, 2C (OMIM:618189)
Gene: PPCS
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PPCS
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PPCS
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PPCS
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PPCS
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PPCS
Phenotype: Death in infancy (HP:0001522)
Associated disease: CARDIOMYOPATHY, DILATED, 2C (OMIM:618189)
Gene: PPCS
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PPCS
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PPCS
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 2C (OMIM:618189)
Gene: PPCS
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PPCS
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PPCS
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TBL1XR1
Phenotype: Broad palm (HP:0001169)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Prominent subcalcaneal fat pad (HP:0032276)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: High anterior hairline (HP:0009890)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: High anterior hairline (HP:0009890)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Hypertonia (HP:0001276)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Seizure (HP:0001250)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 (OMIM:616944)
Gene: TBL1XR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 (OMIM:616944)
Gene: TBL1XR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 (OMIM:616944)
Gene: TBL1XR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 (OMIM:616944)
Gene: TBL1XR1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Hypoplastic areola (HP:0100853)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Abnormality of the plantar skin of foot (HP:0100872)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Chronic infection (HP:0031035)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: TBL1XR1
Phenotype: Atrophy/Degeneration affecting the central nervous system (HP:0007367)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 (OMIM:616944)
Gene: TBL1XR1
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: TBL1XR1
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Micropenis (HP:0000054)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Abnormal subcutaneous fat tissue distribution (HP:0007552)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: TBL1XR1
Phenotype: Absent speech (HP:0001344)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 (OMIM:616944)
Gene: TBL1XR1
Phenotype: Bone pain (HP:0002653)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: TBL1XR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Excessive wrinkling of palmar skin (HP:0007605)
Associated disease: Plantar lipomatosis-unusual facies-developmental delay syndrome; Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome (ORPHA:487825)
Gene: TBL1XR1
Phenotype: Prominent median palatal raphe (HP:0002708)
Associated disease: PIERPONT SYNDROME (OMIM:602342)
Gene: TBL1XR1
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: TBL1XR1
Phenotype: Productive cough (HP:0031245)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: TBL1XR1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: TBL1XR1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 (OMIM:616944)
Gene: TBL1XR1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: TBL1XR1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: PIERPONT SYNDROME (OMIM:602342)