TaoMedAI/RareMedData huggingface dataset:
Gene: FAM50A
Phenotype: Abnormal hand morphology (HP:0005922)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE (OMIM:300261)
Gene: FAM50A
Phenotype: Small hand (HP:0200055)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE (OMIM:300261)
Gene: FAM50A
Phenotype: Short stature (HP:0004322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE (OMIM:300261)
Gene: FAM50A
Phenotype: Malar flattening (HP:0000272)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE (OMIM:300261)
Gene: FAM50A
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE (OMIM:300261)
Gene: FAM50A
Phenotype: Short foot (HP:0001773)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE (OMIM:300261)
Gene: FAM50A
Phenotype: Cataract (HP:0000518)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE (OMIM:300261)
Gene: FAM50A
Phenotype: Glaucoma (HP:0000501)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE (OMIM:300261)
Gene: FAM50A
Phenotype: Prominent forehead (HP:0011220)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE (OMIM:300261)
Gene: AIFM1
Phenotype: Broad palm (HP:0001169)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Mitochondrial encephalomyopathy due to COXPD6; Severe X-linked mitochondrial encephalomyopathy; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 (ORPHA:238329)
Gene: AIFM1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: X-linked Charcot-Marie-Tooth disease type 4; Cowchock syndrome; CMTX4; CMT4X (ORPHA:101078)
Gene: AIFM1
Phenotype: Tetraplegia (HP:0002445)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: X-linked Charcot-Marie-Tooth disease type 4; Cowchock syndrome; CMTX4; CMT4X (ORPHA:101078)
Gene: AIFM1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Mitochondrial encephalomyopathy due to COXPD6; Severe X-linked mitochondrial encephalomyopathy; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 (ORPHA:238329)
Gene: AIFM1
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: X-linked Charcot-Marie-Tooth disease type 4; Cowchock syndrome; CMTX4; CMT4X (ORPHA:101078)
Gene: AIFM1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Areflexia (HP:0001284)
Associated disease: Mitochondrial encephalomyopathy due to COXPD6; Severe X-linked mitochondrial encephalomyopathy; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 (ORPHA:238329)
Gene: AIFM1
Phenotype: Areflexia (HP:0001284)
Associated disease: X-linked Charcot-Marie-Tooth disease type 4; Cowchock syndrome; CMTX4; CMT4X (ORPHA:101078)
Gene: AIFM1
Phenotype: Areflexia (HP:0001284)
Associated disease: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY (OMIM:300614)
Gene: AIFM1
Phenotype: Areflexia (HP:0001284)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Seizure (HP:0001250)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Ataxia (HP:0001251)
Associated disease: X-linked Charcot-Marie-Tooth disease type 4; Cowchock syndrome; CMTX4; CMT4X (ORPHA:101078)
Gene: AIFM1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: X-linked Charcot-Marie-Tooth disease type 4; Cowchock syndrome; CMTX4; CMT4X (ORPHA:101078)
Gene: AIFM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY (OMIM:300614)
Gene: AIFM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:310490)
Gene: AIFM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Abnormal corpus striatum morphology (HP:0010994)
Associated disease: Mitochondrial encephalomyopathy due to COXPD6; Severe X-linked mitochondrial encephalomyopathy; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 (ORPHA:238329)
Gene: AIFM1
Phenotype: Metaphyseal cupping of metacarpals (HP:0006028)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Mitochondrial encephalomyopathy due to COXPD6; Severe X-linked mitochondrial encephalomyopathy; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 (ORPHA:238329)
Gene: AIFM1
Phenotype: Cone-shaped capital femoral epiphysis (HP:0008789)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:310490)
Gene: AIFM1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Tremor (HP:0001337)
Associated disease: X-linked Charcot-Marie-Tooth disease type 4; Cowchock syndrome; CMTX4; CMT4X (ORPHA:101078)
Gene: AIFM1
Phenotype: Tremor (HP:0001337)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Mitochondrial encephalomyopathy due to COXPD6; Severe X-linked mitochondrial encephalomyopathy; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 (ORPHA:238329)
Gene: AIFM1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Scoliosis (HP:0002650)
Associated disease: X-linked Charcot-Marie-Tooth disease type 4; Cowchock syndrome; CMTX4; CMT4X (ORPHA:101078)
Gene: AIFM1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Spondyloepimetaphyseal dysplasia (HP:0002651)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Wormian bones (HP:0002645)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:310490)
Gene: AIFM1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:310490)
Gene: AIFM1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:310490)
Gene: AIFM1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY (OMIM:300614)
Gene: AIFM1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Mitochondrial encephalomyopathy due to COXPD6; Severe X-linked mitochondrial encephalomyopathy; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 (ORPHA:238329)
Gene: AIFM1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:310490)
Gene: AIFM1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Mitochondrial encephalomyopathy due to COXPD6; Severe X-linked mitochondrial encephalomyopathy; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 (ORPHA:238329)
Gene: AIFM1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Mitochondrial encephalomyopathy due to COXPD6; Severe X-linked mitochondrial encephalomyopathy; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 (ORPHA:238329)
Gene: AIFM1
Phenotype: Abnormal pyramidal tract morphology (HP:0002062)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: Mitochondrial encephalomyopathy due to COXPD6; Severe X-linked mitochondrial encephalomyopathy; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 (ORPHA:238329)
Gene: AIFM1
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY (OMIM:300614)
Gene: AIFM1
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:310490)
Gene: AIFM1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Babinski sign (HP:0003487)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Mitochondrial encephalomyopathy due to COXPD6; Severe X-linked mitochondrial encephalomyopathy; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 (ORPHA:238329)
Gene: AIFM1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Cochlear nerve hypoplasia (HP:0034585)
Associated disease: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY (OMIM:300614)
Gene: AIFM1
Phenotype: Small epiphyses (HP:0010585)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Tetraparesis (HP:0002273)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Abnormal astrocyte morphology (HP:0100707)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Mitochondrial encephalomyopathy due to COXPD6; Severe X-linked mitochondrial encephalomyopathy; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 (ORPHA:238329)
Gene: AIFM1
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: Mitochondrial encephalomyopathy due to COXPD6; Severe X-linked mitochondrial encephalomyopathy; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 (ORPHA:238329)
Gene: AIFM1
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:310490)
Gene: AIFM1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: X-linked Charcot-Marie-Tooth disease type 4; Cowchock syndrome; CMTX4; CMT4X (ORPHA:101078)
Gene: AIFM1
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Mitochondrial encephalomyopathy due to COXPD6; Severe X-linked mitochondrial encephalomyopathy; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 (ORPHA:238329)
Gene: AIFM1
Phenotype: Hypokinesia (HP:0002375)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Mitochondrial encephalomyopathy due to COXPD6; Severe X-linked mitochondrial encephalomyopathy; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 (ORPHA:238329)
Gene: AIFM1
Phenotype: Developmental regression (HP:0002376)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Developmental regression (HP:0002376)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Progressive (HP:0003676)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY (OMIM:300614)
Gene: AIFM1
Phenotype: Vertigo (HP:0002321)
Associated disease: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY (OMIM:300614)
Gene: AIFM1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY (OMIM:300614)
Gene: AIFM1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Mitochondrial encephalomyopathy due to COXPD6; Severe X-linked mitochondrial encephalomyopathy; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 (ORPHA:238329)
Gene: AIFM1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: X-linked Charcot-Marie-Tooth disease type 4; Cowchock syndrome; CMTX4; CMT4X (ORPHA:101078)
Gene: AIFM1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Mitochondrial encephalomyopathy due to COXPD6; Severe X-linked mitochondrial encephalomyopathy; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 (ORPHA:238329)
Gene: AIFM1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)