TaoMedAI/RareMedData huggingface dataset:
Gene: SMC1A
Phenotype: Kyphosis (HP:0002808)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: High palate (HP:0000218)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: High palate (HP:0000218)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: High palate (HP:0000218)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Prenatal movement abnormality (HP:0001557)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Central apnea (HP:0002871)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Growth delay (HP:0001510)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Growth delay (HP:0001510)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Growth delay (HP:0001510)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Total ophthalmoplegia (HP:0007824)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Neonatal seizure (HP:0032807)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Camptodactyly (HP:0012385)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Overfolded helix (HP:0000396)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Narrow forehead (HP:0000341)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Long philtrum (HP:0000343)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Micrognathia (HP:0000347)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Micromelia (HP:0002983)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Round face (HP:0000311)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Short philtrum (HP:0000322)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Triangular face (HP:0000325)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Premature birth (HP:0001622)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Blepharitis (HP:0000498)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Macrotia (HP:0000400)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Inappropriate crying (HP:0030215)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Strabismus (HP:0000486)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Microcornea (HP:0000482)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Deeply set eye (HP:0000490)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Narrow nose (HP:0000460)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: SMC1A
Phenotype: Short neck (HP:0000470)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Short neck (HP:0000470)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Short foot (HP:0001773)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Short foot (HP:0001773)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Short foot (HP:0001773)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Short foot (HP:0001773)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Choanal atresia (HP:0000453)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: SMC1A
Phenotype: Cataract (HP:0000518)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Long eyelashes (HP:0000527)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Ptosis (HP:0000508)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Ptosis (HP:0000508)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Glaucoma (HP:0000501)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Gene: SMC1A
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC1A
Phenotype: Talipes (HP:0001883)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC1A
Phenotype: Talipes (HP:0001883)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Gene: SMC1A
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC1A
Phenotype: Myopia (HP:0000545)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NAA10
Phenotype: Syndactyly (HP:0001159)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: Capillary malformation (HP:0025104)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Capillary malformation (HP:0025104)
Associated disease: Premature aging appearance-developmental delay-cardiac arrhythmia syndrome; Ogden syndrome (ORPHA:276432)
Gene: NAA10
Phenotype: Abnormal head movements (HP:0002457)
Associated disease: Premature aging appearance-developmental delay-cardiac arrhythmia syndrome; Ogden syndrome (ORPHA:276432)
Gene: NAA10
Phenotype: Complete duplication of thumb phalanx (HP:0009943)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: NAA10
Phenotype: Enlarged naris (HP:0009931)
Associated disease: Premature aging appearance-developmental delay-cardiac arrhythmia syndrome; Ogden syndrome (ORPHA:276432)
Gene: NAA10
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Premature aging appearance-developmental delay-cardiac arrhythmia syndrome; Ogden syndrome (ORPHA:276432)
Gene: NAA10
Phenotype: Long fingers (HP:0100807)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Long thorax (HP:0100818)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: NAA10
Phenotype: Hypertonia (HP:0001276)
Associated disease: Premature aging appearance-developmental delay-cardiac arrhythmia syndrome; Ogden syndrome (ORPHA:276432)
Gene: NAA10
Phenotype: Hypertonia (HP:0001276)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Motor delay (HP:0001270)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: Lethargy (HP:0001254)
Associated disease: Premature aging appearance-developmental delay-cardiac arrhythmia syndrome; Ogden syndrome (ORPHA:276432)
Gene: NAA10
Phenotype: Seizure (HP:0001250)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: NAA10
Phenotype: Seizure (HP:0001250)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: Hypotonia (HP:0001252)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Hypotonia (HP:0001252)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: NAA10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Premature aging appearance-developmental delay-cardiac arrhythmia syndrome; Ogden syndrome (ORPHA:276432)
Gene: NAA10
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Premature aging appearance-developmental delay-cardiac arrhythmia syndrome; Ogden syndrome (ORPHA:276432)
Gene: NAA10
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: NAA10
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Premature aging appearance-developmental delay-cardiac arrhythmia syndrome; Ogden syndrome (ORPHA:276432)
Gene: NAA10
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Infra-orbital crease (HP:0100876)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: NAA10
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: NAA10
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: Variable expressivity (HP:0003828)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: Hydroureter (HP:0000072)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: Hydroureter (HP:0000072)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: NAA10
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Hypospadias (HP:0000047)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: Hypospadias (HP:0000047)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: NAA10
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Premature aging appearance-developmental delay-cardiac arrhythmia syndrome; Ogden syndrome (ORPHA:276432)
Gene: NAA10
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: NAA10
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Premature aging appearance-developmental delay-cardiac arrhythmia syndrome; Ogden syndrome (ORPHA:276432)
Gene: NAA10
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Premature aging appearance-developmental delay-cardiac arrhythmia syndrome; Ogden syndrome (ORPHA:276432)
Gene: NAA10
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Scoliosis (HP:0002650)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: NAA10
Phenotype: Scoliosis (HP:0002650)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: Scoliosis (HP:0002650)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Scoliosis (HP:0002650)
Associated disease: Premature aging appearance-developmental delay-cardiac arrhythmia syndrome; Ogden syndrome (ORPHA:276432)
Gene: NAA10
Phenotype: Narrow palate (HP:0000189)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: NAA10
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: High, narrow palate (HP:0002705)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Premature aging appearance-developmental delay-cardiac arrhythmia syndrome; Ogden syndrome (ORPHA:276432)