TaoMedAI/RareMedData huggingface dataset:
Gene: CNNM4
Phenotype: Monochromacy (HP:0007803)
Associated disease: JALILI SYNDROME (OMIM:217080)
Gene: CNNM4
Phenotype: Abnormality of dental color (HP:0011073)
Associated disease: Cone rod dystrophy-amelogenesis imperfecta syndrome; Jalili syndrome (ORPHA:1873)
Gene: CNNM4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNNM4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy-amelogenesis imperfecta syndrome; Jalili syndrome (ORPHA:1873)
Gene: CNNM4
Phenotype: Visual impairment (HP:0000505)
Associated disease: JALILI SYNDROME (OMIM:217080)
Gene: CNNM4
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNNM4
Phenotype: Scotoma (HP:0000575)
Associated disease: JALILI SYNDROME (OMIM:217080)
Gene: CNNM4
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy-amelogenesis imperfecta syndrome; Jalili syndrome (ORPHA:1873)
Gene: CNNM4
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: JALILI SYNDROME (OMIM:217080)
Gene: CNNM4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: JALILI SYNDROME (OMIM:217080)
Gene: CNNM4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNNM4
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MYOF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANGIOEDEMA, HEREDITARY, 7 (OMIM:619366)
Gene: MYOF
Phenotype: Swollen lip (HP:0031244)
Associated disease: ANGIOEDEMA, HEREDITARY, 7 (OMIM:619366)
Gene: MYOF
Phenotype: Nailfold capillary tortuosity (HP:0033250)
Associated disease: ANGIOEDEMA, HEREDITARY, 7 (OMIM:619366)
Gene: MYOF
Phenotype: Angioedema (HP:0100665)
Associated disease: ANGIOEDEMA, HEREDITARY, 7 (OMIM:619366)
Gene: MYOF
Phenotype: Facial edema (HP:0000282)
Associated disease: ANGIOEDEMA, HEREDITARY, 7 (OMIM:619366)
Gene: MYOF
Phenotype: Nail bed hemorrhage (HP:0030254)
Associated disease: ANGIOEDEMA, HEREDITARY, 7 (OMIM:619366)
Gene: CHIC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: CHIC2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: CHIC2
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: AGO1
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Mild short stature (HP:0003502)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Anxiety (HP:0000739)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Short nose (HP:0003196)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: High forehead (HP:0000348)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Round face (HP:0000311)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Globus pallidus calcification (HP:0031627)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Macrotia (HP:0000400)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: AGO1
Phenotype: Telecanthus (HP:0000506)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:620292)
Gene: IL36RN
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Sepsis (HP:0100806)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Geographic tongue (HP:0025252)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Geographic tongue (HP:0025252)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Cheilitis (HP:0100825)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Palmoplantar pustulosis (HP:0100847)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Arthritis (HP:0001369)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Erythematous plaque (HP:0025474)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Oligoarthritis (HP:0040313)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Infantile onset (HP:0003593)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Parakeratosis (HP:0001036)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Erythroderma (HP:0001019)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Pustule (HP:0200039)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Pustule (HP:0200039)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Erythema (HP:0010783)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Pedal edema (HP:0010741)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Fever (HP:0001945)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Fever (HP:0001945)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Childhood onset (HP:0011463)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Young adult onset (HP:0011462)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Arthralgia (HP:0002829)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Overweight (HP:0025502)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Obesity (HP:0001513)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Fatigue (HP:0012378)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Hyponatremia (HP:0002902)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Cholangitis (HP:0030151)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Gene: IL36RN
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Uveitis (HP:0000554)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: IL36RN
Phenotype: Pain (HP:0012531)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: SRPK3
Phenotype: Limb dystonia (HP:0002451)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Motor delay (HP:0001270)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Hypotonia (HP:0001252)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Ataxia (HP:0001251)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Global developmental delay (HP:0001263)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Absent speech (HP:0001344)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: X-linked inheritance (HP:0001417)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Infantile onset (HP:0003593)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Vertigo (HP:0002321)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Second trimester onset (HP:0034198)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Short attention span (HP:0000736)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Emotional lability (HP:0000712)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Young adult onset (HP:0011462)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Macrocephaly (HP:0000256)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Colpocephaly (HP:0030048)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Strabismus (HP:0000486)
Associated disease:  (OMIM:301134)
Gene: SRPK3
Phenotype: Prominent forehead (HP:0011220)
Associated disease:  (OMIM:301134)
Gene: BSCL2
Phenotype: Large hands (HP:0001176)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Split hand (HP:0001171)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
Phenotype: Split hand (HP:0001171)
Associated disease: Spastic paraplegia-amyotrophy of hands and feet; Silver syndrome; SPG17; Autosomal dominant spastic paraplegia type 17 (ORPHA:100998)
Gene: BSCL2
Phenotype: Reduced intraabdominal adipose tissue (HP:0025128)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Reduced intraabdominal adipose tissue (HP:0025128)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Impaired vibratory sensation (HP:0002495)
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: BSCL2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Progressive encephalopathy (HP:0002448)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Progressive psychomotor deterioration (HP:0007272)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Chaddock reflex (HP:0010875)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC (OMIM:619112)
Gene: BSCL2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Generalized muscular appearance from birth (HP:0003716)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC (OMIM:619112)
Gene: BSCL2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Seizure (HP:0001250)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Seizure (HP:0001250)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Ataxia (HP:0001251)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Ataxia (HP:0001251)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Polyphagia (HP:0002591)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
Phenotype: Spasticity (HP:0001257)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Spasticity (HP:0001257)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Reduced intrathoracic adipose tissue (HP:0003809)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Tall stature (HP:0000098)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Labial hypertrophy (HP:0000065)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)