TaoMedAI/RareMedData huggingface dataset:
Gene: SNCA
Phenotype: Depression (HP:0000716)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Agitation (HP:0000713)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Agitation (HP:0000713)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Frontal lobe dementia (HP:0000727)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Dementia (HP:0000726)
Associated disease: PARKINSON DISEASE 4, AUTOSOMAL DOMINANT (OMIM:605543)
Gene: SNCA
Phenotype: Dementia (HP:0000726)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Dementia (HP:0000726)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Dementia (HP:0000726)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Dementia (HP:0000726)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: SNCA
Phenotype: Dementia (HP:0000726)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Young adult onset (HP:0011462)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Hyposmia (HP:0004409)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Hyposmia (HP:0004409)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Lewy bodies (HP:0100315)
Associated disease: PARKINSON DISEASE 4, AUTOSOMAL DOMINANT (OMIM:605543)
Gene: SNCA
Phenotype: Lewy bodies (HP:0100315)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Lewy bodies (HP:0100315)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Lewy bodies (HP:0100315)
Associated disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
Gene: SNCA
Phenotype: Lewy bodies (HP:0100315)
Associated disease: DEMENTIA, LEWY BODY (OMIM:127750)
Gene: SNCA
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Monotonic speech (HP:0031435)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Monotonic speech (HP:0031435)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: PARKINSON DISEASE 4, AUTOSOMAL DOMINANT (OMIM:605543)
Gene: SNCA
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Spastic/hyperactive bladder (HP:0005340)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Restless legs (HP:0012452)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNCA
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: SNCA
Phenotype: Weight loss (HP:0001824)
Associated disease: PARKINSON DISEASE 4, AUTOSOMAL DOMINANT (OMIM:605543)
Gene: SNCA
Phenotype: Weight loss (HP:0001824)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: SNCA
Phenotype: Color vision defect (HP:0000551)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SNRPB
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Meningocele (HP:0002435)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Spina bifida (HP:0002414)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Scoliosis (HP:0002650)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Glossoptosis (HP:0000162)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Cleft palate (HP:0000175)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Cleft lip (HP:0410030)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Renal cyst (HP:0000107)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Anal stenosis (HP:0002025)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Calcaneal epiphyseal stippling (HP:0004695)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Congenital onset (HP:0003577)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Hydranencephaly (HP:0002324)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Carious teeth (HP:0000670)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Short stature (HP:0004322)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Anomalous tracheal cartilage (HP:0004468)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Short humerus (HP:0005792)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Short hard palate (HP:0010290)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Short hard palate (HP:0010290)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Epicanthus (HP:0000286)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Malar flattening (HP:0000272)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Kyphosis (HP:0002808)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Microcephaly (HP:0000252)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: High palate (HP:0000218)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Death in infancy (HP:0001522)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Anomalous rib insertion to vertebrae (HP:0006593)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Low-set ears (HP:0000369)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Long philtrum (HP:0000343)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Micrognathia (HP:0000347)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: 10 pairs of ribs (HP:0030300)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Webbed neck (HP:0000465)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Webbed neck (HP:0000465)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Posterior rib gap (HP:0030282)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Posterior rib gap (HP:0030282)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Rib gap (HP:0030280)
Associated disease: CEREBROCOSTOMANDIBULAR SYNDROME (OMIM:117650)
Gene: SNRPB
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Cerebrocostomandibular syndrome (ORPHA:1393)
Gene: SNRPB
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPB
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNRPB
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNRPE
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: HYPOTRICHOSIS 11 (OMIM:615059)
Gene: SNRPE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOTRICHOSIS 11 (OMIM:615059)