TaoMedAI/RareMedData huggingface dataset:
Gene: CISD2
Phenotype: Hallucinations (HP:0000738)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Depression (HP:0000716)
Associated disease: WOLFRAM SYNDROME 2 (OMIM:604928)
Gene: CISD2
Phenotype: Dementia (HP:0000726)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Childhood onset (HP:0011463)
Associated disease: WOLFRAM SYNDROME 2 (OMIM:604928)
Gene: CISD2
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: WOLFRAM SYNDROME 2 (OMIM:604928)
Gene: CISD2
Phenotype: Myopathy (HP:0003198)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: WOLFRAM SYNDROME 2 (OMIM:604928)
Gene: CISD2
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: WOLFRAM SYNDROME 2 (OMIM:604928)
Gene: CISD2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: WOLFRAM SYNDROME 2 (OMIM:604928)
Gene: CISD2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Central apnea (HP:0002871)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WOLFRAM SYNDROME 2 (OMIM:604928)
Gene: CISD2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Glaucoma (HP:0000501)
Associated disease: DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Gene: CISD2
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: WOLFRAM SYNDROME 2 (OMIM:604928)
Gene: PJVK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 59 (OMIM:610220)
Gene: PJVK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 59 (OMIM:610220)
Gene: WEE2
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: WEE2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OOCYTE MATURATION DEFECT 5 (OMIM:617996)
Gene: WEE2
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: WEE2
Phenotype: Female infertility (HP:0008222)
Associated disease: OOCYTE MATURATION DEFECT 5 (OMIM:617996)
Gene: WEE2
Phenotype: Female infertility (HP:0008222)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: WEE2
Phenotype: Lack of oocyte pronucleus formation (HP:0034719)
Associated disease: OOCYTE MATURATION DEFECT 5 (OMIM:617996)
Gene: WEE2
Phenotype: Abnormal oocyte morphology (HP:0020155)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: WEE2
Phenotype: Young adult onset (HP:0011462)
Associated disease: OOCYTE MATURATION DEFECT 5 (OMIM:617996)
Gene: WEE2
Phenotype: Abnormal meiosis (HP:0031515)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: WEE2
Phenotype: Oocyte arrest at metaphase I (HP:0031516)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: C18orf32
Phenotype: Hypotonia (HP:0001252)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25 (OMIM:619985)
Gene: C18orf32
Phenotype: Death in childhood (HP:0003819)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25 (OMIM:619985)
Gene: C18orf32
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25 (OMIM:619985)
Gene: C18orf32
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25 (OMIM:619985)
Gene: C18orf32
Phenotype: Congenital onset (HP:0003577)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25 (OMIM:619985)
Gene: C18orf32
Phenotype: Coarse hair (HP:0002208)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25 (OMIM:619985)
Gene: C18orf32
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25 (OMIM:619985)
Gene: C18orf32
Phenotype: Short stature (HP:0004322)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25 (OMIM:619985)
Gene: C18orf32
Phenotype: Inverted nipples (HP:0003186)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25 (OMIM:619985)
Gene: C18orf32
Phenotype: Decreased circulating alkaline phosphatase activity (HP:0003282)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25 (OMIM:619985)
Gene: C18orf32
Phenotype: Sparse hair (HP:0008070)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25 (OMIM:619985)
Gene: C18orf32
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25 (OMIM:619985)
Gene: GRXCR2
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 101 (OMIM:615837)
Gene: GRXCR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 101 (OMIM:615837)
Gene: GRXCR2
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 101 (OMIM:615837)
Gene: GRXCR2
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 101 (OMIM:615837)
Gene: GRXCR2
Phenotype: Visual impairment (HP:0000505)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 101 (OMIM:615837)
Gene: LIPN
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 (OMIM:613943)
Gene: LIPN
Phenotype: Sepsis (HP:0100806)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 (OMIM:613943)
Gene: LIPN
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Gangrene (HP:0100758)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Erythroderma (HP:0001019)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 (OMIM:613943)
Gene: LIPN
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Erythema (HP:0010783)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 (OMIM:613943)
Gene: LIPN
Phenotype: Dehydration (HP:0001944)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Ectropion (HP:0000656)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Short stature (HP:0004322)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Childhood onset (HP:0011463)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 (OMIM:613943)
Gene: LIPN
Phenotype: Pruritus (HP:0000989)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Dry skin (HP:0000958)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 (OMIM:613943)
Gene: LIPN
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 (OMIM:613943)
Gene: LIPN
Phenotype: Sparse hair (HP:0008070)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 (OMIM:613943)
Gene: LIPN
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: LIPN
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDHAF1
Phenotype: Expressive language delay (HP:0002474)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Progressive psychomotor deterioration (HP:0007272)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Poor head control (HP:0002421)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Skeletal myopathy (HP:0003756)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Motor delay (HP:0001270)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Seizure (HP:0001250)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Spasticity (HP:0001257)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 (OMIM:619166)
Gene: SDHAF1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 (OMIM:619166)
Gene: SDHAF1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 (OMIM:619166)
Gene: SDHAF1
Phenotype: Severe short stature (HP:0003510)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Hyperactive patellar reflex (HP:0007083)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Frequent falls (HP:0002359)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 (OMIM:619166)
Gene: SDHAF1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 (OMIM:619166)
Gene: SDHAF1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Motor deterioration (HP:0002333)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHAF1
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)