TaoMedAI/RareMedData huggingface dataset:
Gene: WDR73
Phenotype: Low-set ears (HP:0000369)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Sloping forehead (HP:0000340)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Micrognathia (HP:0000347)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Micrognathia (HP:0000347)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Premature birth (HP:0001622)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Macrotia (HP:0000400)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Macrotia (HP:0000400)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Strabismus (HP:0000486)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Small nail (HP:0001792)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Brain atrophy (HP:0012444)
Associated disease: CAMOS syndrome; Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; SCAR5 (ORPHA:83472)
Gene: WDR73
Phenotype: Prominent nose (HP:0000448)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Pes cavus (HP:0001761)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Flat occiput (HP:0005469)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Cataract (HP:0000518)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Ptosis (HP:0000508)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Microphthalmia (HP:0000568)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: LTV1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES (OMIM:620199)
Gene: LTV1
Phenotype: Pigment incontinence (HP:0034572)
Associated disease: INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES (OMIM:620199)
Gene: LTV1
Phenotype: Infantile onset (HP:0003593)
Associated disease: INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES (OMIM:620199)
Gene: LTV1
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES (OMIM:620199)
Gene: LTV1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES (OMIM:620199)
Gene: LTV1
Phenotype: Poikiloderma (HP:0001029)
Associated disease: INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES (OMIM:620199)
Gene: LTV1
Phenotype: Acrokeratosis (HP:0200016)
Associated disease: INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES (OMIM:620199)
Gene: LTV1
Phenotype: Mottled pigmentation (HP:0001070)
Associated disease: INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES (OMIM:620199)
Gene: LTV1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES (OMIM:620199)
Gene: LTV1
Phenotype: Childhood onset (HP:0011463)
Associated disease: INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES (OMIM:620199)
Gene: LTV1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES (OMIM:620199)
Gene: SERAC1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Seizure (HP:0001250)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Hypotonia (HP:0001252)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Spasticity (HP:0001257)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Inability to walk (HP:0002540)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Dystonia (HP:0001332)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Absent speech (HP:0001344)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Developmental regression (HP:0002376)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Neonatal sepsis (HP:0040187)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Microcephaly (HP:0000252)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Aplasia/Hypoplasia involving the central nervous system (HP:0002977)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: SERAC1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME (OMIM:614739)
Gene: RELT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IIIC (OMIM:618386)
Gene: RELT
Phenotype: Yellow-brown discoloration of the teeth (HP:0006286)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IIIC (OMIM:618386)
Gene: RELT
Phenotype: Anterior open-bite malocclusion (HP:0009102)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IIIC (OMIM:618386)
Gene: RELT
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IIIC (OMIM:618386)
Gene: RELT
Phenotype: Hypocalcification of dental enamel (HP:0011084)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IIIC (OMIM:618386)
Gene: DISP1
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: DISP1
Phenotype: Poor speech (HP:0002465)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DISP1
Phenotype: Poor speech (HP:0002465)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DISP1
Phenotype: Poor speech (HP:0002465)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DISP1
Phenotype: Expressive language delay (HP:0002474)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: DISP1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DISP1
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: DISP1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DISP1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DISP1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DISP1
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: DISP1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DISP1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DISP1
Phenotype: Single naris (HP:0009932)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DISP1
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: DISP1
Phenotype: Single naris (HP:0009932)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DISP1
Phenotype: Single naris (HP:0009932)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DISP1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: DISP1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DISP1
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: DISP1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DISP1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DISP1
Phenotype: Abnormal midbrain morphology (HP:0002418)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: DISP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: DISP1
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: DISP1
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: DISP1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DISP1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DISP1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DISP1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: DISP1
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: DISP1
Phenotype: Lethargy (HP:0001254)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DISP1
Phenotype: Lethargy (HP:0001254)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DISP1
Phenotype: Lethargy (HP:0001254)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DISP1
Phenotype: Seizure (HP:0001250)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DISP1
Phenotype: Seizure (HP:0001250)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: DISP1
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: DISP1
Phenotype: Seizure (HP:0001250)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DISP1
Phenotype: Seizure (HP:0001250)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DISP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: DISP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DISP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: DISP1
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: DISP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DISP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DISP1
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: DISP1
Phenotype: Spasticity (HP:0001257)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DISP1
Phenotype: Spasticity (HP:0001257)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DISP1
Phenotype: Spasticity (HP:0001257)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DISP1
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: DISP1
Phenotype: Abnormal septum pellucidum morphology (HP:0007375)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: DISP1
Phenotype: Frontoethmoidal encephalocele (HP:0007330)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: DISP1
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: DISP1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DISP1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DISP1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DISP1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: DISP1
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: DISP1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DISP1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DISP1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DISP1
Phenotype: Megalencephaly (HP:0001355)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: DISP1
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: DISP1
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: DISP1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DISP1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DISP1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: DISP1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DISP1
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: DISP1
Phenotype: Absent speech (HP:0001344)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DISP1
Phenotype: Absent speech (HP:0001344)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DISP1
Phenotype: Absent speech (HP:0001344)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DISP1
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: DISP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DISP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DISP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DISP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: DISP1
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: DISP1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DISP1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DISP1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DISP1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: DISP1
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: DISP1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: DISP1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: DISP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)