TaoMedAI/RareMedData huggingface dataset:
Gene: SHOX
Phenotype: Tibial bowing (HP:0002982)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Micromelia (HP:0002983)
Associated disease: Langer mesomelic dysplasia; Mesomelic dwarfism, Langer type (ORPHA:2632)
Gene: SHOX
Phenotype: Micromelia (HP:0002983)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Abnormal tibia morphology (HP:0002992)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Radial bowing (HP:0002986)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Radial bowing (HP:0002986)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Radial bowing (HP:0002986)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Gene: SHOX
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Genu varum (HP:0002970)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: SHOX-related short stature (ORPHA:314795)
Gene: SHOX
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Short neck (HP:0000470)
Associated disease: SHOX-related short stature (ORPHA:314795)
Gene: SHOX
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Short foot (HP:0001773)
Associated disease: SHOX-related short stature (ORPHA:314795)
Gene: SHOX
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHOX
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Abnormal metatarsal morphology (HP:0001832)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Short toe (HP:0001831)
Associated disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Gene: SHOX
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Gene: SHOX
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SHOX
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SI
Phenotype: Flatulence (HP:0033589)
Associated disease: CSID; Congenital sucrase-isomaltase deficiency; Disaccharide intolerance; Congenital sucrose intolerance (ORPHA:35122)
Gene: SI
Phenotype: Decreased mucosal sucrase-isomaltase activity (HP:0033597)
Associated disease: SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL (OMIM:222900)
Gene: SI
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL (OMIM:222900)
Gene: SI
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: CSID; Congenital sucrase-isomaltase deficiency; Disaccharide intolerance; Congenital sucrose intolerance (ORPHA:35122)
Gene: SI
Phenotype: Malabsorption (HP:0002024)
Associated disease: SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL (OMIM:222900)
Gene: SI
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CSID; Congenital sucrase-isomaltase deficiency; Disaccharide intolerance; Congenital sucrose intolerance (ORPHA:35122)
Gene: SI
Phenotype: Nausea (HP:0002018)
Associated disease: CSID; Congenital sucrase-isomaltase deficiency; Disaccharide intolerance; Congenital sucrose intolerance (ORPHA:35122)
Gene: SI
Phenotype: Constipation (HP:0002019)
Associated disease: CSID; Congenital sucrase-isomaltase deficiency; Disaccharide intolerance; Congenital sucrose intolerance (ORPHA:35122)
Gene: SI
Phenotype: Abdominal pain (HP:0002027)
Associated disease: SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL (OMIM:222900)
Gene: SI
Phenotype: Abdominal pain (HP:0002027)
Associated disease: CSID; Congenital sucrase-isomaltase deficiency; Disaccharide intolerance; Congenital sucrose intolerance (ORPHA:35122)
Gene: SI
Phenotype: Diarrhea (HP:0002014)
Associated disease: SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL (OMIM:222900)
Gene: SI
Phenotype: Diarrhea (HP:0002014)
Associated disease: CSID; Congenital sucrase-isomaltase deficiency; Disaccharide intolerance; Congenital sucrose intolerance (ORPHA:35122)
Gene: SI
Phenotype: Vomiting (HP:0002013)
Associated disease: CSID; Congenital sucrase-isomaltase deficiency; Disaccharide intolerance; Congenital sucrose intolerance (ORPHA:35122)
Gene: SI
Phenotype: Abdominal colic (HP:0011848)
Associated disease: CSID; Congenital sucrase-isomaltase deficiency; Disaccharide intolerance; Congenital sucrose intolerance (ORPHA:35122)
Gene: SI
Phenotype: Infantile onset (HP:0003593)
Associated disease: SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL (OMIM:222900)
Gene: SI
Phenotype: Bloody diarrhea (HP:0025085)
Associated disease: CSID; Congenital sucrase-isomaltase deficiency; Disaccharide intolerance; Congenital sucrose intolerance (ORPHA:35122)
Gene: SI
Phenotype: Poor appetite (HP:0004396)
Associated disease: CSID; Congenital sucrase-isomaltase deficiency; Disaccharide intolerance; Congenital sucrose intolerance (ORPHA:35122)
Gene: SI
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL (OMIM:222900)
Gene: SI
Phenotype: Abdominal distention (HP:0003270)
Associated disease: CSID; Congenital sucrase-isomaltase deficiency; Disaccharide intolerance; Congenital sucrose intolerance (ORPHA:35122)
Gene: SI
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CSID; Congenital sucrase-isomaltase deficiency; Disaccharide intolerance; Congenital sucrose intolerance (ORPHA:35122)
Gene: SI
Phenotype: Fatigue (HP:0012378)
Associated disease: CSID; Congenital sucrase-isomaltase deficiency; Disaccharide intolerance; Congenital sucrose intolerance (ORPHA:35122)
Gene: SIAH1
Phenotype: Microtia (HP:0008551)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Motor delay (HP:0001270)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Sparse medial eyebrow (HP:0025325)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Hypospadias (HP:0000047)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Floppy infant (HP:0008947)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Congenital onset (HP:0003577)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Broad hallux (HP:0010055)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Broad thumb (HP:0011304)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Epicanthus (HP:0000286)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: High palate (HP:0000218)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Low-set ears (HP:0000369)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Strabismus (HP:0000486)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Small nail (HP:0001792)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Ptosis (HP:0000508)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Exotropia (HP:0000577)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Esotropia (HP:0000565)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: SIAH1
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: BURATTI-HAREL SYNDROME (OMIM:619314)
Gene: ST3GAL3
Phenotype: Primitive reflex (HP:0002476)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 (OMIM:615006)
Gene: ST3GAL3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 (OMIM:615006)
Gene: ST3GAL3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12 (OMIM:611090)
Gene: ST3GAL3
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 (OMIM:615006)
Gene: ST3GAL3
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 (OMIM:615006)
Gene: ST3GAL3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 (OMIM:615006)
Gene: ST3GAL3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12 (OMIM:611090)
Gene: ST3GAL3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 (OMIM:615006)
Gene: ST3GAL3
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 (OMIM:615006)
Gene: ST3GAL3
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 (OMIM:615006)
Gene: ST3GAL3
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 (OMIM:615006)
Gene: ST3GAL3
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 (OMIM:615006)
Gene: ST3GAL3
Phenotype: Atonic seizure (HP:0010819)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 (OMIM:615006)
Gene: ST3GAL3
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 (OMIM:615006)
Gene: ST3GAL3
Phenotype: Irritability (HP:0000737)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 (OMIM:615006)
Gene: ST3GAL3
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 (OMIM:615006)
Gene: ST3GAL3
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 (OMIM:615006)
Gene: ST3GAL3
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 (OMIM:615006)
Gene: ST3GAL3
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 (OMIM:615006)
Gene: STIL
Phenotype: Poor speech (HP:0002465)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: STIL
Phenotype: Poor speech (HP:0002465)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Poor speech (HP:0002465)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Poor speech (HP:0002465)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Expressive language delay (HP:0002474)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Limb dystonia (HP:0002451)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: STIL
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: STIL
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Single naris (HP:0009932)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Single naris (HP:0009932)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: STIL
Phenotype: Single naris (HP:0009932)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Single naris (HP:0009932)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Cyclopia (HP:0009914)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Cyclopia (HP:0009914)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: STIL
Phenotype: Cyclopia (HP:0009914)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Cyclopia (HP:0009914)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:612703)
Gene: STIL
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: STIL
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:612703)
Gene: STIL
Phenotype: Abnormal midbrain morphology (HP:0002418)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: STIL
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: STIL
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Lethargy (HP:0001254)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: STIL
Phenotype: Lethargy (HP:0001254)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Lethargy (HP:0001254)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Lethargy (HP:0001254)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Seizure (HP:0001250)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Seizure (HP:0001250)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: STIL
Phenotype: Seizure (HP:0001250)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Seizure (HP:0001250)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:612703)
Gene: STIL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: STIL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:612703)
Gene: STIL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: STIL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:612703)
Gene: STIL
Phenotype: Spasticity (HP:0001257)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: STIL
Phenotype: Spasticity (HP:0001257)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Spasticity (HP:0001257)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Spasticity (HP:0001257)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Abnormal septum pellucidum morphology (HP:0007375)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Frontoethmoidal encephalocele (HP:0007330)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: STIL
Phenotype: Inability to walk (HP:0002540)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: STIL
Phenotype: Inability to walk (HP:0002540)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Inability to walk (HP:0002540)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Inability to walk (HP:0002540)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: STIL
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: STIL
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Megalencephaly (HP:0001355)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: STIL
Phenotype: Specific learning disability (HP:0001328)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: STIL
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)