TaoMedAI/RareMedData huggingface dataset:
Gene: HERC2
Phenotype: Breech presentation (HP:0001623)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Strabismus (HP:0000486)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Chronic constipation (HP:0012450)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Short foot (HP:0001773)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Sandal gap (HP:0001852)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Esotropia (HP:0000565)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Myopia (HP:0000545)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC1
Phenotype: Large hands (HP:0001176)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Seizure (HP:0001250)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Tall stature (HP:0000098)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Micropenis (HP:0000054)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Megalencephaly (HP:0001355)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Megalencephaly (HP:0001355)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Absent speech (HP:0001344)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Absent speech (HP:0001344)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Drooling (HP:0002307)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Severe expressive language delay (HP:0006863)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Long face (HP:0000276)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Long face (HP:0000276)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Malar flattening (HP:0000272)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Kyphosis (HP:0002808)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Overgrowth (HP:0001548)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: High palate (HP:0000218)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: High palate (HP:0000218)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Asymmetry of the thorax (HP:0001555)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Slender build (HP:0001533)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Large for gestational age (HP:0001520)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Large for gestational age (HP:0001520)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: High myopia (HP:0011003)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Low-set ears (HP:0000369)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Triangular face (HP:0000325)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Triangular face (HP:0000325)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Macrotia (HP:0000400)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Macrotia (HP:0000400)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Long neck (HP:0000472)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Long neck (HP:0000472)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Pes planus (HP:0001763)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Pes planus (HP:0001763)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Proptosis (HP:0000520)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Proptosis (HP:0000520)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Long foot (HP:0001833)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Long foot (HP:0001833)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: HERC1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Gene: HERC1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Gene: FOXH1
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: FOXH1
Phenotype: Poor speech (HP:0002465)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FOXH1
Phenotype: Poor speech (HP:0002465)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FOXH1
Phenotype: Poor speech (HP:0002465)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FOXH1
Phenotype: Expressive language delay (HP:0002474)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: FOXH1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FOXH1
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: FOXH1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FOXH1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FOXH1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FOXH1
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: FOXH1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FOXH1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FOXH1
Phenotype: Single naris (HP:0009932)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FOXH1
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: FOXH1
Phenotype: Single naris (HP:0009932)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FOXH1
Phenotype: Single naris (HP:0009932)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FOXH1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FOXH1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FOXH1
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: FOXH1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FOXH1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FOXH1
Phenotype: Abnormal midbrain morphology (HP:0002418)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: FOXH1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: FOXH1
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: FOXH1
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: FOXH1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FOXH1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FOXH1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FOXH1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: FOXH1
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: FOXH1
Phenotype: Lethargy (HP:0001254)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FOXH1
Phenotype: Lethargy (HP:0001254)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FOXH1
Phenotype: Lethargy (HP:0001254)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FOXH1
Phenotype: Seizure (HP:0001250)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FOXH1
Phenotype: Seizure (HP:0001250)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FOXH1
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: FOXH1
Phenotype: Seizure (HP:0001250)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FOXH1
Phenotype: Seizure (HP:0001250)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FOXH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: FOXH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FOXH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FOXH1
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: FOXH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FOXH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FOXH1
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: FOXH1
Phenotype: Spasticity (HP:0001257)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FOXH1
Phenotype: Spasticity (HP:0001257)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FOXH1
Phenotype: Spasticity (HP:0001257)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FOXH1
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: FOXH1
Phenotype: Abnormal septum pellucidum morphology (HP:0007375)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: FOXH1
Phenotype: Frontoethmoidal encephalocele (HP:0007330)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: FOXH1
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: FOXH1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FOXH1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)