TaoMedAI/RareMedData huggingface dataset:
Gene: SAMD9L
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Gene: SAMD9L
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Gene: SAMD9L
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 1 (OMIM:252270)
Gene: SAMD9L
Phenotype: Pancytopenia (HP:0001876)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Gene: SAMD9L
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: STOX1
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: PREECLAMPSIA/ECLAMPSIA 4 (OMIM:609404)
Gene: STOX1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Epigastric pain (HP:0410019)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Abnormal placenta morphology (HP:0100767)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Headache (HP:0002315)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Eclampsia (HP:0100601)
Associated disease: PREECLAMPSIA/ECLAMPSIA 4 (OMIM:609404)
Gene: STOX1
Phenotype: Preeclampsia (HP:0100602)
Associated disease: PREECLAMPSIA/ECLAMPSIA 4 (OMIM:609404)
Gene: STOX1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Young adult onset (HP:0011462)
Associated disease: PREECLAMPSIA/ECLAMPSIA 4 (OMIM:609404)
Gene: STOX1
Phenotype: Elevated systolic blood pressure (HP:0004421)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Hypertension (HP:0000822)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Increased body mass index (HP:0031418)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Elevated diastolic blood pressure (HP:0005117)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Helicobacter pylori infection (HP:0005202)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Abnormality of the hepatic vasculature (HP:0006707)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: STOX1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Preeclampsia (ORPHA:275555)
Gene: HYLS1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Seizure (HP:0001250)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Ataxia (HP:0001251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Laryngeal hypoplasia (HP:0008749)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Stillbirth (HP:0003826)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Hypospadias (HP:0000047)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Tremor (HP:0001337)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Bifid uterus (HP:0000136)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Agenesis of the diaphragm (HP:0008986)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Bifid nose (HP:0011803)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Encephalocele (HP:0002084)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Apnea (HP:0002104)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Adrenal gland dysgenesis (HP:0008216)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Anencephaly (HP:0002323)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Anencephaly (HP:0002323)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Tracheal atresia (HP:0100682)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Upper limb undergrowth (HP:0009824)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Cleft in skull base (HP:0009752)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Duplication of phalanx of hallux (HP:0010066)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Severe hydrocephalus (HP:0006882)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Gingival cleft (HP:0030690)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Unilateral cleft lip (HP:0100333)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HYLS1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Long face (HP:0000276)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Proximal tibial hypoplasia (HP:0006379)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HYLS1
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: HYLS1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Gene: HYLS1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: HYLS1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)