TaoMedAI/RareMedData huggingface dataset:
Gene: STIL
Phenotype: Depression (HP:0000716)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Depression (HP:0000716)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Atypical behavior (HP:0000708)
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: Atypical behavior (HP:0000708)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
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: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:612703)
Gene: STIL
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Abnormal central motor function (HP:0011442)
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: Abnormal central motor function (HP:0011442)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: STIL
Phenotype: Abnormality of the skeletal system (HP:0000924)
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: Abnormality of the skeletal system (HP:0000924)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Diabetes insipidus (HP:0000873)
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: Diabetes insipidus (HP:0000873)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Panhypopituitarism (HP:0000871)
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: Panhypopituitarism (HP:0000871)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Central diabetes insipidus (HP:0000863)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Proboscis (HP:0012806)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Proboscis (HP:0012806)
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: Proboscis (HP:0012806)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Proboscis (HP:0012806)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Abnormality of the endocrine system (HP:0000818)
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: Abnormality of the endocrine system (HP:0000818)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
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: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Abnormality of limbs (HP:0040064)
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: Abnormality of limbs (HP:0040064)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Neural tube defect (HP:0045005)
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: Neural tube defect (HP:0045005)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
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: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Macrocephaly (HP:0000256)
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: Macrocephaly (HP:0000256)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Hip dislocation (HP:0002827)
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: Hip dislocation (HP:0002827)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Hydrocephalus (HP:0000238)
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: Hydrocephalus (HP:0000238)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Microcephaly (HP:0000252)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Microcephaly (HP:0000252)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Microcephaly (HP:0000252)
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: Microcephaly (HP:0000252)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Microcephaly (HP:0000252)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: STIL
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: STIL
Phenotype: High palate (HP:0000218)
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: High palate (HP:0000218)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: High palate (HP:0000218)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: High palate (HP:0000218)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Central apnea (HP:0002871)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Central apnea (HP:0002871)
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: Central apnea (HP:0002871)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Central apnea (HP:0002871)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Failure to thrive (HP:0001508)
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: Failure to thrive (HP:0001508)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Growth delay (HP:0001510)
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: Growth delay (HP:0001510)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Growth delay (HP:0001510)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Growth delay (HP:0001510)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: STIL
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Chronic lung disease (HP:0006528)
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: Chronic lung disease (HP:0006528)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:612703)
Gene: STIL
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: STIL
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Abnormal heart morphology (HP:0001627)
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: Abnormal heart morphology (HP:0001627)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Sensorineural hearing impairment (HP:0000407)
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: Sensorineural hearing impairment (HP:0000407)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Abnormality of the eye (HP:0000478)
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: Abnormality of the eye (HP:0000478)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Depressed nasal ridge (HP:0000457)
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: Depressed nasal ridge (HP:0000457)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Prominent nose (HP:0000448)
Associated disease: MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:612703)
Gene: STIL
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: SIM1
Phenotype: Tapered finger (HP:0001182)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Abnormal rapid eye movement sleep (HP:0002494)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Microtia (HP:0008551)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Motor delay (HP:0001270)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Confusional arousal (HP:0025237)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Lethargy (HP:0001254)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Seizure (HP:0001250)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Obesity due to SIM1 deficiency (ORPHA:369873)
Gene: SIM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Polyphagia (HP:0002591)
Associated disease: Obesity due to SIM1 deficiency (ORPHA:369873)
Gene: SIM1
Phenotype: Polyphagia (HP:0002591)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Polyphagia (HP:0002591)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Obesity due to SIM1 deficiency (ORPHA:369873)
Gene: SIM1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Small scrotum (HP:0000046)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Micropenis (HP:0000054)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: 6q16 microdeletion syndrome; Prader-Willi-like syndrome due to microdeletion 6q16; Monosomy 6q16; Del(6)(q16) (ORPHA:171829)
Gene: SIM1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Hypotension (HP:0002615)
Associated disease: Obesity due to SIM1 deficiency (ORPHA:369873)
Gene: SIM1
Phenotype: Skin-picking (HP:0012166)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Floppy infant (HP:0008947)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)
Gene: SIM1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: SIM1-related PWLS; SIM1-related Prader-Willi-like syndrome (ORPHA:398079)