TaoMedAI/RareMedData huggingface dataset:
Gene: POLR1D
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Abnormal lacrimal duct morphology (HP:0011481)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Multiple enchondromatosis (HP:0005701)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Abnormality of the adrenal glands (HP:0000834)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Retrognathia (HP:0000278)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Retrognathia (HP:0000278)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Malar flattening (HP:0000272)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Malar flattening (HP:0000272)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: High palate (HP:0000218)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Abnormality of the middle ear (HP:0000370)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Micrognathia (HP:0000347)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Micrognathia (HP:0000347)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Microretrognathia (HP:0000308)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Strabismus (HP:0000486)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Choanal atresia (HP:0000453)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Fusion of middle ear ossicles (HP:0005473)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Cataract (HP:0000518)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Visual impairment (HP:0000505)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Short face (HP:0011219)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GAL
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8 (OMIM:616461)
Gene: GAL
Phenotype: Deja vu aura (HP:0012005)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8 (OMIM:616461)
Gene: GAL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8 (OMIM:616461)
Gene: GAL
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8 (OMIM:616461)
Gene: GAL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8 (OMIM:616461)
Gene: GAL
Phenotype: Focal aware cognitive seizure with forced thinking (HP:0032705)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8 (OMIM:616461)
Gene: GAL
Phenotype: Focal aware sensory seizure with auditory features (HP:0032864)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8 (OMIM:616461)
Gene: GAL
Phenotype: Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena (HP:0032785)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8 (OMIM:616461)
Gene: MLXIPL
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Stroke (HP:0001297)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Hypotonia (HP:0001252)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Flexion contracture (HP:0001371)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Micropenis (HP:0000054)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Celiac disease (HP:0002608)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Open mouth (HP:0000194)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Portal hypertension (HP:0001409)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Constipation (HP:0002019)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Midface retrusion (HP:0011800)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Gait imbalance (HP:0002141)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Myxomatous mitral valve degeneration (HP:0004764)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Phonophobia (HP:0002183)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Large earlobe (HP:0009748)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Poor coordination (HP:0002370)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Hyperacusis (HP:0010780)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Incoordination (HP:0002311)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Blue irides (HP:0000635)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Amblyopia (HP:0000646)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Hypotelorism (HP:0000601)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Microdontia (HP:0000691)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Hypodontia (HP:0000668)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Short stature (HP:0004322)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Enuresis (HP:0000805)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Anxiety (HP:0000739)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Short attention span (HP:0000736)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Early onset of sexual maturation (HP:0100000)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Atypical behavior (HP:0000708)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Short nose (HP:0003196)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Hypertension (HP:0000822)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Soft skin (HP:0000977)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Cutis laxa (HP:0000973)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Osteoporosis (HP:0000939)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Osteopenia (HP:0000938)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Epicanthus (HP:0000286)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Full cheeks (HP:0000293)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Malar flattening (HP:0000272)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Coronary artery stenosis (HP:0005145)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Obesity (HP:0001513)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Hoarse voice (HP:0001609)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Sudden death (HP:0001699)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Narrow forehead (HP:0000341)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Long philtrum (HP:0000343)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)