TaoMedAI/RareMedData huggingface dataset:
Gene: STIL
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Absent speech (HP:0001344)
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: Absent speech (HP:0001344)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Absent speech (HP:0001344)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Absent speech (HP:0001344)
Associated disease: MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:612703)
Gene: STIL
Phenotype: Absent speech (HP:0001344)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:612703)
Gene: STIL
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: STIL
Phenotype: Scoliosis (HP:0002650)
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: Scoliosis (HP:0002650)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Scoliosis (HP:0002650)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Scoliosis (HP:0002650)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Bifid uvula (HP:0000193)
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: Bifid uvula (HP:0000193)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Median cleft upper lip (HP:0000161)
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: Median cleft upper lip (HP:0000161)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Cleft palate (HP:0000175)
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: Cleft palate (HP:0000175)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Cleft palate (HP:0000175)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Cleft palate (HP:0000175)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:612703)
Gene: STIL
Phenotype: Solitary median maxillary central incisor (HP:0006315)
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: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Floppy infant (HP:0008947)
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: Floppy infant (HP:0008947)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Floppy infant (HP:0008947)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Floppy infant (HP:0008947)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Axial hypotonia (HP:0008936)
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: Axial hypotonia (HP:0008936)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: STIL
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Abnormality of the genitourinary system (HP:0000119)
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 genitourinary system (HP:0000119)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Abnormal pattern of respiration (HP:0002793)
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 pattern of respiration (HP:0002793)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Gastroesophageal reflux (HP:0002020)
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: Gastroesophageal reflux (HP:0002020)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Constipation (HP:0002019)
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: Constipation (HP:0002019)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Constipation (HP:0002019)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Constipation (HP:0002019)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Poor suck (HP:0002033)
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 suck (HP:0002033)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Poor suck (HP:0002033)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Poor suck (HP:0002033)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Dysphagia (HP:0002015)
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: Dysphagia (HP:0002015)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Dysphagia (HP:0002015)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Dysphagia (HP:0002015)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Dysphagia (HP:0002015)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Vomiting (HP:0002013)
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: Vomiting (HP:0002013)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Vomiting (HP:0002013)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Vomiting (HP:0002013)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
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 morphology of the olfactory bulb (HP:0040327)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Temperature instability (HP:0005968)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Temperature instability (HP:0005968)
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: Temperature instability (HP:0005968)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Temperature instability (HP:0005968)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Central hypothyroidism (HP:0011787)
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 hypothyroidism (HP:0011787)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: STIL
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
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 autonomic nervous system (HP:0002270)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:612703)
Gene: STIL
Phenotype: Cerebral visual impairment (HP:0100704)
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: Cerebral visual impairment (HP:0100704)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Impulsivity (HP:0100710)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: STIL
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Aplasia of the falx cerebri (HP:0010654)
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: Aplasia of the falx cerebri (HP:0010654)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
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: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Feeding difficulties (HP:0011968)
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: Feeding difficulties (HP:0011968)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Aspiration pneumonia (HP:0011951)
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: Aspiration pneumonia (HP:0011951)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Abnormal brainstem morphology (HP:0002363)
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 brainstem morphology (HP:0002363)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Abnormal heart rate variability (HP:0031860)
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 rate variability (HP:0031860)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Hypotelorism (HP:0000601)
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: Hypotelorism (HP:0000601)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Short stature (HP:0004322)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Short stature (HP:0004322)
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: Short stature (HP:0004322)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Short stature (HP:0004322)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: STIL
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
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: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Rhombencephalosynapsis (HP:0031913)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Irritability (HP:0000737)
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: Irritability (HP:0000737)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Irritability (HP:0000737)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Irritability (HP:0000737)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Anxiety (HP:0000739)
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: Anxiety (HP:0000739)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Anxiety (HP:0000739)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Anxiety (HP:0000739)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Short attention span (HP:0000736)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: STIL
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
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 gastrointestinal tract morphology (HP:0012718)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Apathy (HP:0000741)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: STIL
Phenotype: Apathy (HP:0000741)
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: Apathy (HP:0000741)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: STIL
Phenotype: Apathy (HP:0000741)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: STIL
Phenotype: Depression (HP:0000716)
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: Depression (HP:0000716)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)