TaoMedAI/RareMedData huggingface dataset:
Gene: ASXL3
Phenotype: Synophrys (HP:0000664)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Caesarean section (HP:0011410)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Autism (HP:0000717)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Short nose (HP:0003196)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Long nose (HP:0003189)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Precocious puberty (HP:0000826)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Contracture of the proximal interphalangeal joint of the 4th finger (HP:0009276)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Sparse hair (HP:0008070)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Epicanthus (HP:0000286)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Retrognathia (HP:0000278)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Malar flattening (HP:0000272)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Large fontanelles (HP:0000239)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Microcephaly (HP:0000252)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: High palate (HP:0000218)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Death in infancy (HP:0001522)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Growth delay (HP:0001510)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Low-set ears (HP:0000369)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Sloping forehead (HP:0000340)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Micrognathia (HP:0000347)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Short chin (HP:0000331)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Breech presentation (HP:0001623)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Strabismus (HP:0000486)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Strabismus (HP:0000486)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Pes planus (HP:0001763)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Pes planus (HP:0001763)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Long eyelashes (HP:0000527)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Proptosis (HP:0000520)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Hypermetropia (HP:0000540)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: DDHD1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (OMIM:609340)
Gene: DDHD1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (OMIM:609340)
Gene: DDHD1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (OMIM:609340)
Gene: DDHD1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Autosomal recessive spastic paraplegia type 28; SPG28 (ORPHA:101008)
Gene: DDHD1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Autosomal recessive spastic paraplegia type 28; SPG28 (ORPHA:101008)
Gene: DDHD1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (OMIM:609340)
Gene: DDHD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (OMIM:609340)
Gene: DDHD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive spastic paraplegia type 28; SPG28 (ORPHA:101008)
Gene: DDHD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (OMIM:609340)
Gene: DDHD1
Phenotype: Rigidity (HP:0002063)
Associated disease: Autosomal recessive spastic paraplegia type 28; SPG28 (ORPHA:101008)
Gene: DDHD1
Phenotype: Spastic gait (HP:0002064)
Associated disease: Autosomal recessive spastic paraplegia type 28; SPG28 (ORPHA:101008)
Gene: DDHD1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (OMIM:609340)
Gene: DDHD1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Autosomal recessive spastic paraplegia type 28; SPG28 (ORPHA:101008)
Gene: DDHD1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (OMIM:609340)
Gene: DDHD1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal recessive spastic paraplegia type 28; SPG28 (ORPHA:101008)
Gene: DDHD1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (OMIM:609340)
Gene: DDHD1
Phenotype: Postural instability (HP:0002172)
Associated disease: Autosomal recessive spastic paraplegia type 28; SPG28 (ORPHA:101008)
Gene: DDHD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (OMIM:609340)
Gene: DDHD1
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: Autosomal recessive spastic paraplegia type 28; SPG28 (ORPHA:101008)
Gene: DDHD1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (OMIM:609340)
Gene: DDHD1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Autosomal recessive spastic paraplegia type 28; SPG28 (ORPHA:101008)
Gene: DDHD1
Phenotype: Impaired tactile sensation (HP:0010830)
Associated disease: Autosomal recessive spastic paraplegia type 28; SPG28 (ORPHA:101008)
Gene: DDHD1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (OMIM:609340)
Gene: DDHD1
Phenotype: Abolished vibration sense (HP:0006944)
Associated disease: Autosomal recessive spastic paraplegia type 28; SPG28 (ORPHA:101008)
Gene: DDHD1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (OMIM:609340)
Gene: DDHD1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal recessive spastic paraplegia type 28; SPG28 (ORPHA:101008)
Gene: DDHD1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (OMIM:609340)
Gene: APOL4
Phenotype: Negativism (HP:0410291)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: APOL4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: APOL4
Phenotype: Schizophrenia (HP:0100753)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: APOL4
Phenotype: Social and occupational deterioration (HP:0007086)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: APOL4
Phenotype: EEG abnormality (HP:0002353)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: APOL4
Phenotype: Hallucinations (HP:0000738)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: APOL4
Phenotype: Delusion (HP:0000746)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: LNPK
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Dysmetria (HP:0001310)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Rigidity (HP:0002063)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Drooling (HP:0002307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Hyperactivity (HP:0000752)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Vegetative state (HP:0031358)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Tonic seizure (HP:0032792)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: LNPK
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Gene: TUBB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED (OMIM:613112)
Gene: TUBB1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED (OMIM:613112)
Gene: TUBB1
Phenotype: Impaired platelet aggregation (HP:0003540)
Associated disease: MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED (OMIM:613112)
Gene: TUBB1
Phenotype: Macrothrombocytopenia (HP:0040185)
Associated disease: MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED (OMIM:613112)
Gene: SLC2A10
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Keratoglobus (HP:0001119)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Hypotonia (HP:0001252)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SLC2A10
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SLC2A10
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SLC2A10
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SLC2A10
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Gene: SLC2A10
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SLC2A10
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SLC2A10
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SLC2A10
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SLC2A10
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)