TaoMedAI/RareMedData huggingface dataset:
Gene: SMC1A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Constipation (HP:0002019)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Poor suck (HP:0002033)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Dysphagia (HP:0002015)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Vomiting (HP:0002013)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Temperature instability (HP:0005968)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Midface retrusion (HP:0011800)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Apraxia (HP:0002186)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: 1-2 toe syndactyly (HP:0010711)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Seizure cluster (HP:0033349)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Developmental regression (HP:0002376)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Loss of speech (HP:0002371)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Hirsutism (HP:0001007)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Hirsutism (HP:0001007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Small hand (HP:0200055)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Small hand (HP:0200055)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Small hand (HP:0200055)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Small hand (HP:0200055)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Partial anomalous pulmonary venous return (HP:0010773)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Mutism (HP:0002300)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Truncal obesity (HP:0001956)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Hypotelorism (HP:0000601)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Broad hallux (HP:0010055)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Dental crowding (HP:0000678)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Synophrys (HP:0000664)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Synophrys (HP:0000664)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Synophrys (HP:0000664)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Short stature (HP:0004322)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Short stature (HP:0004322)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Short stature (HP:0004322)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Irritability (HP:0000737)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Anxiety (HP:0000739)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Anxiety (HP:0000739)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Apathy (HP:0000741)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Depression (HP:0000716)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Autism (HP:0000717)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Agitation (HP:0000713)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Restrictive behavior (HP:0000723)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Short nose (HP:0003196)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Short nose (HP:0003196)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Proboscis (HP:0012806)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Abnormally low-pitched voice (HP:0010300)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Retrognathia (HP:0000278)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Clinodactyly (HP:0030084)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Clinodactyly (HP:0030084)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)