TaoMedAI/RareMedData huggingface dataset:
Gene: RPL9
Phenotype: Microcephaly (HP:0000252)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: High palate (HP:0000218)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Growth delay (HP:0001510)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Low-set ears (HP:0000369)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Micrognathia (HP:0000347)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Short neck (HP:0000470)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Webbed neck (HP:0000465)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Elevated red cell adenosine deaminase activity (HP:0030270)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Pure red cell aplasia (HP:0012410)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Malignant genitourinary tract tumor (HP:0006758)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL9
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPL10
Phenotype: Tapered finger (HP:0001182)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Tapered finger (HP:0001182)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Tapered finger (HP:0001182)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Hypotonia (HP:0001252)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Ataxia (HP:0001251)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Ataxia (HP:0001251)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Inability to walk (HP:0002540)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Sacral lipoma (HP:0012033)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Lipoma (HP:0012032)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Hypospadias (HP:0000047)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Hypospadias (HP:0000047)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Hypospadias (HP:0000047)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Absent speech (HP:0001344)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Tremor (HP:0001337)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Scoliosis (HP:0002650)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Narrow mouth (HP:0000160)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Floppy infant (HP:0008947)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Recurrent infections (HP:0002719)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Recurrent infections (HP:0002719)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Recurrent infections (HP:0002719)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Lumbar scoliosis (HP:0004626)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Congenital onset (HP:0003577)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Cutaneous syndactyly of toes (HP:0010621)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Frequent falls (HP:0002359)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Hirsutism (HP:0001007)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Branchial cyst (HP:0009796)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Dorsal hirsutism (HP:0034042)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Dental crowding (HP:0000678)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Dental crowding (HP:0000678)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (ORPHA:435938)
Gene: RPL10
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RPL10
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Autism (HP:0000717)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Fetal onset (HP:0011461)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)
Gene: RPL10
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RPL10
Phenotype: Lower-limb joint contracture (HP:0005750)
Associated disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
Gene: RPL10
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (OMIM:300998)