TaoMedAI/RareMedData huggingface dataset:
Gene: KDM5C
Phenotype: Short palm (HP:0004279)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Diastema (HP:0000699)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Decreased body weight (HP:0004325)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Short stature (HP:0004322)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Autism (HP:0000717)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Restlessness (HP:0000711)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Macrocephaly (HP:0000256)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Clinodactyly (HP:0030084)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Microcephaly (HP:0000252)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: High palate (HP:0000218)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Small forehead (HP:0000350)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Tonic seizure (HP:0032792)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Micrognathia (HP:0000347)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Strabismus (HP:0000486)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Deeply set eye (HP:0000490)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Short foot (HP:0001773)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Protruding ear (HP:0000411)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Protruding ear (HP:0000411)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Myopia (HP:0000545)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: SMC1A
Phenotype: Tapered finger (HP:0001182)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Poor speech (HP:0002465)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Poor speech (HP:0002465)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Single naris (HP:0009932)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Cyclopia (HP:0009914)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Panic attack (HP:0025269)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Hypertonia (HP:0001276)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Hypertonia (HP:0001276)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Lethargy (HP:0001254)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Seizure (HP:0001250)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Seizure (HP:0001250)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Seizure (HP:0001250)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Seizure (HP:0001250)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Volvulus (HP:0002580)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Spasticity (HP:0001257)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Spasticity (HP:0001257)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Inability to walk (HP:0002540)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Inability to walk (HP:0002540)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Semilobar holoprosencephaly (HP:0002507)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Abnormal muscle tone (HP:0003808)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Pill-rolling tremor (HP:0025387)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Hypospadias (HP:0000047)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Dystonia (HP:0001332)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Absent speech (HP:0001344)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Tremor (HP:0001337)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Oligodactyly (HP:0012165)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Cleft palate (HP:0000175)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Cleft palate (HP:0000175)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Unilateral ptosis (HP:0007687)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Curly eyelashes (HP:0007665)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Floppy infant (HP:0008947)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Hand apraxia (HP:0032588)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)