TaoMedAI/RareMedData huggingface dataset:
Gene: GARS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Gene: GARS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: First dorsal interossei muscle weakness (HP:0003392)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA (OMIM:600794)
Gene: GARS1
Phenotype: First dorsal interossei muscle weakness (HP:0003392)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: GARS1
Phenotype: First dorsal interossei muscle weakness (HP:0003392)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Gene: GARS1
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA (OMIM:600794)
Gene: GARS1
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: GARS1
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Gene: GARS1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: GARS1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA (OMIM:600794)
Gene: GARS1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Gene: GARS1
Phenotype: First dorsal interossei muscle atrophy (HP:0003426)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA (OMIM:600794)
Gene: GARS1
Phenotype: First dorsal interossei muscle atrophy (HP:0003426)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: GARS1
Phenotype: First dorsal interossei muscle atrophy (HP:0003426)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Gene: GARS1
Phenotype: Thenar muscle weakness (HP:0003427)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA (OMIM:600794)
Gene: GARS1
Phenotype: Thenar muscle weakness (HP:0003427)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: GARS1
Phenotype: Thenar muscle weakness (HP:0003427)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Gene: GARS1
Phenotype: Cold-induced hand cramps (HP:0003435)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA (OMIM:600794)
Gene: GARS1
Phenotype: Cold-induced hand cramps (HP:0003435)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: GARS1
Phenotype: Cold-induced hand cramps (HP:0003435)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Gene: GARS1
Phenotype: Postural instability (HP:0002172)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Gene: GARS1
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: GARS1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA (OMIM:600794)
Gene: GARS1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Gene: GARS1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA (OMIM:600794)
Gene: GARS1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Gene: GARS1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: GARS1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA (OMIM:600794)
Gene: GARS1
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: GARS1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: GARS1
Phenotype: Short stature (HP:0004322)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: Young adult onset (HP:0011462)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Gene: GARS1
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA (OMIM:600794)
Gene: GARS1
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA (OMIM:600794)
Gene: GARS1
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Gene: GARS1
Phenotype: Hip contracture (HP:0003273)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: Abnormal motor nerve conduction velocity (HP:0040131)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: GARS1
Phenotype: Pes valgus (HP:0008081)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: GARS1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Gene: GARS1
Phenotype: Weak voice (HP:0001621)
Associated disease: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE (OMIM:619042)
Gene: GARS1
Phenotype: Pes planus (HP:0001763)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA (OMIM:600794)
Gene: GARS1
Phenotype: Hammertoe (HP:0001765)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: GARS1
Phenotype: Hammertoe (HP:0001765)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA (OMIM:600794)
Gene: GARS1
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Gene: GARS1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D (OMIM:601472)
Gene: GARS1
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA (OMIM:600794)
Gene: GARS1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: GAS1
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: GAS1
Phenotype: Poor speech (HP:0002465)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Poor speech (HP:0002465)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Poor speech (HP:0002465)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Expressive language delay (HP:0002474)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GAS1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
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: GAS1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
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: GAS1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Single naris (HP:0009932)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
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: GAS1
Phenotype: Single naris (HP:0009932)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Single naris (HP:0009932)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
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: GAS1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Abnormal midbrain morphology (HP:0002418)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GAS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GAS1
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: GAS1
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: GAS1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GAS1
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: GAS1
Phenotype: Lethargy (HP:0001254)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Lethargy (HP:0001254)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Lethargy (HP:0001254)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Seizure (HP:0001250)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Seizure (HP:0001250)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS1
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: GAS1
Phenotype: Seizure (HP:0001250)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Seizure (HP:0001250)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GAS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS1
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: GAS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
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: GAS1
Phenotype: Spasticity (HP:0001257)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Spasticity (HP:0001257)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Spasticity (HP:0001257)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
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: GAS1
Phenotype: Abnormal septum pellucidum morphology (HP:0007375)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GAS1
Phenotype: Frontoethmoidal encephalocele (HP:0007330)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GAS1
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: GAS1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS1
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: GAS1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Megalencephaly (HP:0001355)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GAS1
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS1
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: GAS1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: GAS1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
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: GAS1
Phenotype: Absent speech (HP:0001344)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Absent speech (HP:0001344)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Absent speech (HP:0001344)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
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: GAS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS1
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: GAS1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
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: GAS1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GAS1
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: GAS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GAS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
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: GAS1
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GAS1
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: GAS1
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GAS1
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)