TaoMedAI/RareMedData huggingface dataset:
Gene: RMP64
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Retrognathia (HP:0000278)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Genu valgum (HP:0002857)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Hip subluxation (HP:0030043)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Femoral bowing (HP:0002980)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Small nail (HP:0001792)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Trident hand (HP:0004060)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: POLR1A
Phenotype: Duane anomaly (HP:0009921)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Anotia (HP:0009892)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Microtia (HP:0008551)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Poor head control (HP:0002421)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Nevus (HP:0003764)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Hypertonia (HP:0001276)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Motor delay (HP:0001270)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Head titubation (HP:0002599)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Seizure (HP:0001250)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Absent speech (HP:0001344)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Myoclonus (HP:0001336)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Cleft palate (HP:0000175)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: POLR1A
Phenotype: Cleft lip (HP:0410030)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Tracheobronchomalacia (HP:0002786)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Dysphagia (HP:0002015)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Syringomyelia (HP:0003396)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Gait ataxia (HP:0002066)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Babinski sign (HP:0003487)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Infantile onset (HP:0003593)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Congenital onset (HP:0003577)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Congenital onset (HP:0003577)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Biventricular hypertrophy (HP:0200128)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Pterygium (HP:0001059)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Developmental regression (HP:0002376)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Developmental regression (HP:0002376)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Atonic seizure (HP:0010819)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Pulmonary artery aneurysm (HP:0004937)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Upper eyelid coloboma (HP:0000636)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Lower eyelid coloboma (HP:0000652)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Hypodontia (HP:0000668)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Decreased body weight (HP:0004325)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Short stature (HP:0004322)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Short stature (HP:0004322)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Short stature (HP:0004322)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: POLR1A
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Median pseudocleft lip (HP:0034185)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: POLR1A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Irritability (HP:0000737)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Mild hearing impairment (HP:0012712)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Childhood onset (HP:0011463)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Short nose (HP:0003196)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Short nose (HP:0003196)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: POLR1A
Phenotype: Aplastic zygomatic arch (HP:0034260)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Partial atrioventricular canal defect (HP:0011577)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Cleft anterior mitral valve leaflet (HP:0011569)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Bilateral choanal atresia (HP:0004502)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: POLR1A
Phenotype: Bilateral choanal atresia (HP:0004502)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Joint contracture (HP:0034392)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Anomalous origin of right coronary artery from the pulmonary artery (HP:0011639)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Epicanthus (HP:0000286)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Retrognathia (HP:0000278)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1A
Phenotype: High palate (HP:0000218)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Aspiration (HP:0002835)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Small for gestational age (HP:0001518)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Gene: POLR1A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Gene: POLR1A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)