TaoMedAI/RareMedData huggingface dataset:
Gene: PIGT
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: EEG with generalized sharp slow waves (HP:0011199)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Astigmatism (HP:0000483)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Strabismus (HP:0000486)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Strabismus (HP:0000486)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Visual impairment (HP:0000505)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Esotropia (HP:0000565)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
Gene: PIGT
Phenotype: Hypermetropia (HP:0000540)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: PIGT
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 (OMIM:615399)
Gene: PIGT
Phenotype: Myopia (HP:0000545)
Associated disease: PIGT-CDG; Congenital disorder of glycosylation due to PIGT deficiency; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; Multiple congenital anomalies-hypotonia-seizures syndrome type 3; MCAHS type 3 (ORPHA:369837)
Gene: GET4
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Absent speech (HP:0001344)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Status epilepticus (HP:0002133)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Malnutrition (HP:0004395)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Hip subluxation (HP:0030043)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: GET4
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Gene: DPH5
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Midface retrusion (HP:0011800)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Alveolar ridge overgrowth (HP:0009085)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Carious teeth (HP:0000670)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Antenatal onset (HP:0030674)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Multiple muscular ventricular septal defects (HP:0011625)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Motor regression (HP:0033044)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Death in infancy (HP:0001522)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: High myopia (HP:0011003)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Broad forehead (HP:0000337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: High forehead (HP:0000348)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Brain atrophy (HP:0012444)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Pes planus (HP:0001763)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: DPH5
Phenotype: Prominent forehead (HP:0011220)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Gene: KLF13
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: KLF13
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: KLF13
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: KLF13
Phenotype: Seizure (HP:0001250)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: KLF13
Phenotype: Hypotonia (HP:0001252)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: KLF13
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: KLF13
Phenotype: Specific learning disability (HP:0001328)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: KLF13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: KLF13
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: KLF13
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: KLF13
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: KLF13
Phenotype: Synophrys (HP:0000664)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: KLF13
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: KLF13
Phenotype: Atypical behavior (HP:0000708)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: KLF13
Phenotype: Abnormality of the palpebral fissures (HP:0008050)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: KLF13
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: KLF13
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: KLF13
Phenotype: Strabismus (HP:0000486)
Associated disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Gene: DYNC2LI1
Phenotype: Acute leukemia (HP:0002488)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: DYNC2LI1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2LI1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY (OMIM:617088)
Gene: DYNC2LI1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2LI1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY (OMIM:617088)
Gene: DYNC2LI1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: DYNC2LI1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: DYNC2LI1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2LI1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2LI1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2LI1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: DYNC2LI1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2LI1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2LI1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: DYNC2LI1
Phenotype: Capitate-hamate fusion (HP:0001241)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: DYNC2LI1
Phenotype: Aplasia of the epiglottis (HP:0008753)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY (OMIM:617088)
Gene: DYNC2LI1
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: DYNC2LI1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2LI1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2LI1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY (OMIM:617088)
Gene: DYNC2LI1
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2LI1
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2LI1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: DYNC2LI1
Phenotype: Hydroureter (HP:0000072)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: DYNC2LI1
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: DYNC2LI1
Phenotype: Epispadias (HP:0000039)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: DYNC2LI1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2LI1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)