TaoMedAI/RareMedData huggingface dataset:
Gene: SMARCC2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COFFIN-SIRIS SYNDROME 8 (OMIM:618362)
Gene: SMARCC2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Growth delay (HP:0001510)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Strabismus (HP:0000486)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Small nail (HP:0001792)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: COFFIN-SIRIS SYNDROME 8 (OMIM:618362)
Gene: SMARCC2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: COFFIN-SIRIS SYNDROME 8 (OMIM:618362)
Gene: SMARCC2
Phenotype: Ptosis (HP:0000508)
Associated disease: COFFIN-SIRIS SYNDROME 8 (OMIM:618362)
Gene: SMARCC2
Phenotype: Ptosis (HP:0000508)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Prominent eyelashes (HP:0011231)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: COFFIN-SIRIS SYNDROME 8 (OMIM:618362)
Gene: SMARCC2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Oral aversion (HP:0012523)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCC2
Phenotype: Myopia (HP:0000545)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Seizure (HP:0001250)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Absent speech (HP:0001344)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Wide mouth (HP:0000154)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Wide mouth (HP:0000154)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Hypoplastic fifth toenail (HP:0011937)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Hernia (HP:0100790)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Hypoplastic fifth fingernail (HP:0008398)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Hirsutism (HP:0001007)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Small hand (HP:0200055)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Short nose (HP:0003196)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Wide nasal base (HP:0012810)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Short 5th finger (HP:0009237)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Broad philtrum (HP:0000289)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: High palate (HP:0000218)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Growth delay (HP:0001510)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Strabismus (HP:0000486)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Small nail (HP:0001792)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Gene: SMARCD1
Phenotype: Ptosis (HP:0000508)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Prominent eyelashes (HP:0011231)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Oral aversion (HP:0012523)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD1
Phenotype: Myopia (HP:0000545)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCD2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Simple ear (HP:0020206)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Sepsis (HP:0100806)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Bone marrow maturation arrest (HP:0033606)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Death in childhood (HP:0003819)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Delayed umbilical cord separation (HP:0032434)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Neonatal omphalitis (HP:0032435)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Intractable diarrhea (HP:0002041)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Hirsutism (HP:0001007)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Anemia (HP:0001903)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Conical tooth (HP:0000698)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Tooth malposition (HP:0000692)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Osteopenia (HP:0000938)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Death in infancy (HP:0001522)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Low-set ears (HP:0000369)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Sandal gap (HP:0001852)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Fragile nails (HP:0001808)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Absent neutrophil specific granules (HP:0012551)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCD2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: SPECIFIC GRANULE DEFICIENCY 2 (OMIM:617475)
Gene: SMARCE1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: COFFIN-SIRIS SYNDROME 5 (OMIM:616938)
Gene: SMARCE1
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCE1
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: COFFIN-SIRIS SYNDROME 5 (OMIM:616938)
Gene: SMARCE1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCE1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: COFFIN-SIRIS SYNDROME 5 (OMIM:616938)
Gene: SMARCE1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCE1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCE1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCE1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCE1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCE1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCE1
Phenotype: Syncope (HP:0001279)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCE1
Phenotype: Seizure (HP:0001250)
Associated disease: COFFIN-SIRIS SYNDROME 5 (OMIM:616938)
Gene: SMARCE1
Phenotype: Seizure (HP:0001250)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCE1
Phenotype: Seizure (HP:0001250)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCE1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCE1
Phenotype: Ataxia (HP:0001251)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCE1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COFFIN-SIRIS SYNDROME 5 (OMIM:616938)
Gene: SMARCE1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COFFIN-SIRIS SYNDROME 5 (OMIM:616938)
Gene: SMARCE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCE1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCE1
Phenotype: Chromosomal breakage induced by ionizing radiation (HP:0010997)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCE1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCE1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCE1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCE1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCE1
Phenotype: Brain stem compression (HP:0002512)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCE1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: SMARCE1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCE1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCE1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCE1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCE1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCE1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCE1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCE1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCE1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCE1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCE1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCE1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCE1
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCE1
Phenotype: Absent speech (HP:0001344)
Associated disease: COFFIN-SIRIS SYNDROME 5 (OMIM:616938)
Gene: SMARCE1
Phenotype: Absent speech (HP:0001344)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCE1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCE1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: SMARCE1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COFFIN-SIRIS SYNDROME 5 (OMIM:616938)
Gene: SMARCE1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCE1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCE1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: COFFIN-SIRIS SYNDROME 5 (OMIM:616938)
Gene: SMARCE1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCE1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCE1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: COFFIN-SIRIS SYNDROME 5 (OMIM:616938)
Gene: SMARCE1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCE1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCE1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCE1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCE1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCE1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: COFFIN-SIRIS SYNDROME 5 (OMIM:616938)