TaoMedAI/RareMedData huggingface dataset:
Gene: DHH
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Abnormal peripheral nerve morphology by anatomical site (HP:0045010)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: DHH
Phenotype: Sex reversal (HP:0012245)
Associated disease: 46,XY SEX REVERSAL 7 (OMIM:233420)
Gene: DHH
Phenotype: Pes cavus (HP:0001761)
Associated disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Gene: CDON
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: CDON
Phenotype: Poor speech (HP:0002465)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Poor speech (HP:0002465)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Poor speech (HP:0002465)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
Phenotype: Expressive language delay (HP:0002474)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: CDON
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
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: CDON
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
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: CDON
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Single naris (HP:0009932)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
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: CDON
Phenotype: Single naris (HP:0009932)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Single naris (HP:0009932)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Cyclopia (HP:0009914)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: CDON
Phenotype: Cyclopia (HP:0009914)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
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: CDON
Phenotype: Cyclopia (HP:0009914)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Cyclopia (HP:0009914)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Abnormal midbrain morphology (HP:0002418)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: CDON
Phenotype: Sporadic (HP:0003745)
Associated disease: HOLOPROSENCEPHALY 11 (OMIM:614226)
Gene: CDON
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: CDON
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: CDON
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: CDON
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HOLOPROSENCEPHALY 11 (OMIM:614226)
Gene: CDON
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: CDON
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: CDON
Phenotype: Lethargy (HP:0001254)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Lethargy (HP:0001254)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Lethargy (HP:0001254)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
Phenotype: Seizure (HP:0001250)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: CDON
Phenotype: Seizure (HP:0001250)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
Phenotype: Seizure (HP:0001250)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: CDON
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: CDON
Phenotype: Seizure (HP:0001250)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Seizure (HP:0001250)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: CDON
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: CDON
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: CDON
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: CDON
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: CDON
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HOLOPROSENCEPHALY 11 (OMIM:614226)
Gene: CDON
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: CDON
Phenotype: Spasticity (HP:0001257)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Spasticity (HP:0001257)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Spasticity (HP:0001257)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: CDON
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: CDON
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: CDON
Phenotype: Abnormal septum pellucidum morphology (HP:0007375)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: CDON
Phenotype: Frontoethmoidal encephalocele (HP:0007330)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: CDON
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: CDON
Phenotype: Inability to walk (HP:0002540)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Inability to walk (HP:0002540)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Inability to walk (HP:0002540)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
Phenotype: Variable expressivity (HP:0003828)
Associated disease: HOLOPROSENCEPHALY 11 (OMIM:614226)
Gene: CDON
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: CDON
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: CDON
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
Phenotype: Megalencephaly (HP:0001355)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: CDON
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: HOLOPROSENCEPHALY 11 (OMIM:614226)
Gene: CDON
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: CDON
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: CDON
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: CDON
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: CDON
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
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: CDON
Phenotype: Absent speech (HP:0001344)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Absent speech (HP:0001344)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Absent speech (HP:0001344)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HOLOPROSENCEPHALY 11 (OMIM:614226)
Gene: CDON
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: CDON
Phenotype: Scoliosis (HP:0002650)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Scoliosis (HP:0002650)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Scoliosis (HP:0002650)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
Phenotype: Scoliosis (HP:0002650)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: CDON
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: CDON
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
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: CDON
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Cleft palate (HP:0000175)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: CDON
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: CDON
Phenotype: Cleft palate (HP:0000175)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Cleft palate (HP:0000175)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Cleft palate (HP:0000175)
Associated disease: HOLOPROSENCEPHALY 11 (OMIM:614226)
Gene: CDON
Phenotype: Cleft palate (HP:0000175)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
Phenotype: Cleft lip (HP:0410030)
Associated disease: HOLOPROSENCEPHALY 11 (OMIM:614226)
Gene: CDON
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: CDON
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
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: CDON
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
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: CDON
Phenotype: Floppy infant (HP:0008947)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Floppy infant (HP:0008947)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Floppy infant (HP:0008947)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
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: CDON
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: CDON
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
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: CDON
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
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: CDON
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: CDON
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: CDON
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
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: CDON
Phenotype: Constipation (HP:0002019)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Constipation (HP:0002019)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Constipation (HP:0002019)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
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: CDON
Phenotype: Poor suck (HP:0002033)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Poor suck (HP:0002033)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Poor suck (HP:0002033)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
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: CDON
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Dysphagia (HP:0002015)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Dysphagia (HP:0002015)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: CDON
Phenotype: Dysphagia (HP:0002015)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
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: CDON
Phenotype: Vomiting (HP:0002013)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: CDON
Phenotype: Vomiting (HP:0002013)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: CDON
Phenotype: Vomiting (HP:0002013)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: CDON
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: CDON
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)