TaoMedAI/RareMedData huggingface dataset:
Gene: SMARCA2
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Labial hypoplasia (HP:0000066)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Sparse medial eyebrow (HP:0025325)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Hypospadias (HP:0000047)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Prominent interphalangeal joints (HP:0006237)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Absent speech (HP:0001344)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Wide mouth (HP:0000154)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Wide mouth (HP:0000154)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Wide mouth (HP:0000154)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Curly eyelashes (HP:0007665)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: High, narrow palate (HP:0002705)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Constipation (HP:0002019)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Echolalia (HP:0010529)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Long toe (HP:0010511)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Hernia (HP:0100790)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Aplastic/hypoplastic toenail (HP:0010624)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Severe short stature (HP:0003510)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Mild short stature (HP:0003502)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Aphasia (HP:0002381)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Dimple chin (HP:0010751)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Short metatarsal (HP:0010743)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Low hanging columella (HP:0009765)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Mutism (HP:0002300)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Chiari malformation (HP:0002308)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Drooling (HP:0002307)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Drooling (HP:0002307)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Short palm (HP:0004279)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Periorbital wrinkles (HP:0000607)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Dry hair (HP:0011359)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Microdontia (HP:0000691)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Synophrys (HP:0000664)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Short stature (HP:0004322)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Enuresis (HP:0000805)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Enlarged joints (HP:0003037)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Overfriendliness (HP:0100025)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Short attention span (HP:0000736)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Broad 2nd toe (HP:0100040)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Short nose (HP:0003196)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Wide nasal base (HP:0012810)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Sparse hair (HP:0008070)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Sparse hair (HP:0008070)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Epicanthus (HP:0000286)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Broad philtrum (HP:0000289)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Alopecia (HP:0001596)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Microcephaly (HP:0000252)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Short lingual frenulum (HP:0000200)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Growth delay (HP:0001510)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Flat face (HP:0012368)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Low-set ears (HP:0000369)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Long philtrum (HP:0000343)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Short philtrum (HP:0000322)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Triangular face (HP:0000325)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Triangular face (HP:0000325)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Unilateral narrow palpebral fissure (HP:0007946)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Macrotia (HP:0000400)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Pes planus (HP:0001763)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Wide nose (HP:0000445)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)