TaoMedAI/RareMedData huggingface dataset:
Gene: SALL1
Phenotype: Short stature (HP:0004322)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Satyr ear (HP:0030676)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Stahl ear (HP:0100015)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Overfolding of the superior helices (HP:0004453)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Aplasia/Hypoplasia of the 3rd toe (HP:0010331)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Aplasia/Hypoplasia of the 3rd toe (HP:0010331)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Lop ear (HP:0000394)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Macrotia (HP:0000400)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Strabismus (HP:0000486)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Pes planus (HP:0001763)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Cataract (HP:0000518)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Clinodactyly of the 5th toe (HP:0001864)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Talipes (HP:0001883)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SARS1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SARS1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SARS1
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES (OMIM:617709)
Gene: SARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES (OMIM:617709)
Gene: SARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SARS1
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SARS1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SARS1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SARS1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES (OMIM:617709)
Gene: SARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES (OMIM:617709)
Gene: SARS1
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SARS1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SARS1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES (OMIM:617709)
Gene: SARS1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SARS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES (OMIM:617709)
Gene: SARS1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SARS1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES (OMIM:617709)
Gene: SARS1
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SARS1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES (OMIM:617709)
Gene: SARS1
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES (OMIM:617709)
Gene: SARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SARS1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SARS1
Phenotype: Slender build (HP:0001533)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES (OMIM:617709)
Gene: SARS1
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SARS1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SARS1
Phenotype: Pes planus (HP:0001763)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES (OMIM:617709)
Gene: SARS1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SAT1
Phenotype: Language impairment (HP:0002463)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: SAT1
Phenotype: Seizure (HP:0001250)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SAT1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)