TaoMedAI/RareMedData huggingface dataset:
Gene: POGLUT1
Phenotype: Young adult onset (HP:0011462)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
Gene: POGLUT1
Phenotype: Mixed hypo- and hyperpigmentation of the skin (HP:0009123)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Scrotal hyperpigmentation (HP:0012855)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
Gene: POGLUT1
Phenotype: Reduced FEV1/FVC ratio (HP:0030877)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
Gene: POGLUT1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
Gene: POGLUT1
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Pruritus (HP:0000989)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Pruritus (HP:0000989)
Associated disease: DOWLING-DEGOS DISEASE 4 (OMIM:615696)
Gene: POGLUT1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Acne inversa (HP:0040154)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Inguinal freckling (HP:0030052)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Keratoacanthoma (HP:0031525)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Airway obstruction (HP:0006536)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
Gene: POGLUT1
Phenotype: Penile freckling (HP:0031447)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Anal margin squamous cell carcinoma (HP:0030442)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
Gene: POGLUT1
Phenotype: Erythematous papule (HP:0030350)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: POGLUT1
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
Gene: PSMG2
Phenotype: Motor delay (HP:0001270)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Gene: PSMG2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Gene: PSMG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Gene: PSMG2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Gene: PSMG2
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Gene: PSMG2
Phenotype: Infantile onset (HP:0003593)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Gene: PSMG2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Gene: PSMG2
Phenotype: Acute phase response (HP:0033331)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Gene: PSMG2
Phenotype: Myositis (HP:0100614)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Gene: PSMG2
Phenotype: Erythema (HP:0010783)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Gene: PSMG2
Phenotype: Recurrent fever (HP:0001954)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Gene: PSMG2
Phenotype: Generalized lipodystrophy (HP:0009064)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Gene: PSMG2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Gene: PSMG2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Gene: PSMG2
Phenotype: Edema (HP:0000969)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Gene: PSMG2
Phenotype: Panniculitis (HP:0012490)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Gene: PSMG2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Gene: PSMG2
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Gene: KIF15
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Poor speech (HP:0002465)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Periorbital hyperpigmentation (HP:0001106)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Microtia (HP:0008551)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Bruxism (HP:0003763)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Seizure (HP:0001250)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Absent speech (HP:0001344)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BRADDOCK-CAREY SYNDROME 2 (OMIM:619981)
Gene: KIF15
Phenotype: Stereotypical body rocking (HP:0012172)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Cleft palate (HP:0000175)
Associated disease: BRADDOCK-CAREY SYNDROME 2 (OMIM:619981)
Gene: KIF15
Phenotype: Wide mouth (HP:0000154)
Associated disease: BRADDOCK-CAREY SYNDROME 2 (OMIM:619981)
Gene: KIF15
Phenotype: Floppy infant (HP:0008947)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Short proximal phalanx of the 2nd finger (HP:0009597)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Congenital onset (HP:0003577)
Associated disease: BRADDOCK-CAREY SYNDROME 2 (OMIM:619981)
Gene: KIF15
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Drooling (HP:0002307)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Megakaryocytopenia (HP:0005548)
Associated disease: BRADDOCK-CAREY SYNDROME 2 (OMIM:619981)
Gene: KIF15
Phenotype: Anemia (HP:0001903)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Dental crowding (HP:0000678)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Short stature (HP:0004322)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Acromesomelia (HP:0003086)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Short proximal phalanx of the 5th finger (HP:0009226)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Dry skin (HP:0000958)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Retrognathia (HP:0000278)
Associated disease: BRADDOCK-CAREY SYNDROME 2 (OMIM:619981)
Gene: KIF15
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Clinodactyly (HP:0030084)
Associated disease: BRADDOCK-CAREY SYNDROME 2 (OMIM:619981)
Gene: KIF15
Phenotype: Microcephaly (HP:0000252)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Microcephaly (HP:0000252)
Associated disease: BRADDOCK-CAREY SYNDROME 2 (OMIM:619981)
Gene: KIF15
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: BRADDOCK-CAREY SYNDROME 2 (OMIM:619981)
Gene: KIF15
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BRADDOCK-CAREY SYNDROME 2 (OMIM:619981)
Gene: KIF15
Phenotype: Low-set ears (HP:0000369)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Round face (HP:0000311)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Inappropriate crying (HP:0030215)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Strabismus (HP:0000486)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BRADDOCK-CAREY SYNDROME 2 (OMIM:619981)
Gene: KIF15
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Small nail (HP:0001792)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: KIF15
Phenotype: Bulbous nose (HP:0000414)
Associated disease: BRADDOCK-CAREY SYNDROME 2 (OMIM:619981)
Gene: KIF15
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: BRADDOCK-CAREY SYNDROME 2 (OMIM:619981)
Gene: KIF15
Phenotype: Microphthalmia (HP:0000568)
Associated disease: BRADDOCK-CAREY SYNDROME 2 (OMIM:619981)
Gene: KIF15
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BRADDOCK-CAREY SYNDROME 2 (OMIM:619981)
Gene: KIF15
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Monosomy 21q22.11q22.12; Del(21)(q22.11q22.12); 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
Gene: COQ8A
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Seizure (HP:0001250)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Hypotonia (HP:0001252)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Ataxia (HP:0001251)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Dystonia (HP:0001332)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Tremor (HP:0001337)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Tremor (HP:0001337)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Myoclonus (HP:0001336)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Myoclonus (HP:0001336)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Talipes cavus equinovarus (HP:0004696)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Infantile onset (HP:0003593)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)