TaoMedAI/RareMedData huggingface dataset:
Gene: AIFM1
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Abnormal speech discrimination (HP:0001963)
Associated disease: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY (OMIM:300614)
Gene: AIFM1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:310490)
Gene: AIFM1
Phenotype: Moderate global developmental delay (HP:0011343)
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 connective tissue (HP:0009025)
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: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Horizontal nystagmus (HP:0000666)
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 stature (HP:0004322)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Involuntary movements (HP:0004305)
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: Involuntary movements (HP:0004305)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Enlargement of the wrists (HP:0003020)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Abnormal brainstem MRI signal intensity (HP:0012747)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: X-linked Charcot-Marie-Tooth disease type 4; Cowchock syndrome; CMTX4; CMT4X (ORPHA:101078)
Gene: AIFM1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:310490)
Gene: AIFM1
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: X-linked Charcot-Marie-Tooth disease type 4; Cowchock syndrome; CMTX4; CMT4X (ORPHA:101078)
Gene: AIFM1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Irritability (HP:0000737)
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: Irritability (HP:0000737)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Delayed speech and language development (HP:0000750)
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: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY (OMIM:300614)
Gene: AIFM1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Abnormal middle ear reflexes (HP:0004454)
Associated disease: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY (OMIM:300614)
Gene: AIFM1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Anterior rib cupping (HP:0000907)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Prominent sternum (HP:0000884)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Thin ribs (HP:0000883)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:310490)
Gene: AIFM1
Phenotype: Large knee (HP:0030866)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Metaphyseal chondrodysplasia (HP:0005871)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: X-linked Charcot-Marie-Tooth disease type 4; Cowchock syndrome; CMTX4; CMT4X (ORPHA:101078)
Gene: AIFM1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY (OMIM:300614)
Gene: AIFM1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Skeletal muscle atrophy (HP:0003202)
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: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
Gene: AIFM1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Short finger (HP:0009381)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Malar flattening (HP:0000272)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Peg-like central prominence of distal tibial metaphyses (HP:0006423)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Coxa vara (HP:0002812)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Kyphosis (HP:0002808)
Associated disease: X-linked Charcot-Marie-Tooth disease type 4; Cowchock syndrome; CMTX4; CMT4X (ORPHA:101078)
Gene: AIFM1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: High palate (HP:0000218)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY (OMIM:300614)
Gene: AIFM1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:310490)
Gene: AIFM1
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:310490)
Gene: AIFM1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: X-linked Charcot-Marie-Tooth disease type 4; Cowchock syndrome; CMTX4; CMT4X (ORPHA:101078)
Gene: AIFM1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY (OMIM:300614)
Gene: AIFM1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:310490)
Gene: AIFM1
Phenotype: Tinnitus (HP:0000360)
Associated disease: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY (OMIM:300614)
Gene: AIFM1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:310490)
Gene: AIFM1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Broad foot (HP:0001769)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Pes cavus (HP:0001761)
Associated disease: X-linked Charcot-Marie-Tooth disease type 4; Cowchock syndrome; CMTX4; CMT4X (ORPHA:101078)
Gene: AIFM1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Visual impairment (HP:0000505)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: H-SMD; Hypomyelination-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-SEMD syndrome; Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome; Leukoencephalopathy-metaphyseal chondrodysplasia syndrome (ORPHA:83629)
Gene: AIFM1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AIFM1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AIFM1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY (OMIM:300232)
Gene: AIFM1
Phenotype: Myopia (HP:0000545)
Associated disease: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY (OMIM:300614)
Gene: KCNQ4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 2A (OMIM:600101)
Gene: KCNQ4
Phenotype: Progressive (HP:0003676)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 2A (OMIM:600101)
Gene: KCNQ4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 2A (OMIM:600101)
Gene: KCNQ4
Phenotype: Tinnitus (HP:0000360)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 2A (OMIM:600101)
Gene: ARHGEF1
Phenotype: Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295)
Associated disease: IMMUNODEFICIENCY 62 (OMIM:618459)
Gene: ARHGEF1
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 62 (OMIM:618459)
Gene: ARHGEF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 62 (OMIM:618459)
Gene: ARHGEF1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY 62 (OMIM:618459)
Gene: ARHGEF1
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: IMMUNODEFICIENCY 62 (OMIM:618459)
Gene: ARHGEF1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 62 (OMIM:618459)
Gene: ARHGEF1
Phenotype: Reduced isohemagglutinin level (HP:0032139)
Associated disease: IMMUNODEFICIENCY 62 (OMIM:618459)
Gene: ARHGEF1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY 62 (OMIM:618459)
Gene: ARHGEF1
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: IMMUNODEFICIENCY 62 (OMIM:618459)
Gene: ARHGEF1
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 62 (OMIM:618459)
Gene: ARHGEF1
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 62 (OMIM:618459)
Gene: ARHGEF1
Phenotype: Recurrent herpes (HP:0005353)
Associated disease: IMMUNODEFICIENCY 62 (OMIM:618459)
Gene: ARHGEF1
Phenotype: Severe recurrent varicella (HP:0005428)
Associated disease: IMMUNODEFICIENCY 62 (OMIM:618459)
Gene: ARHGEF1
Phenotype: Decreased proportion of memory B cells (HP:0030374)
Associated disease: IMMUNODEFICIENCY 62 (OMIM:618459)
Gene: ARHGEF1
Phenotype: Increased transitional B cell proportion (HP:0030381)
Associated disease: IMMUNODEFICIENCY 62 (OMIM:618459)
Gene: NEMF
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY (OMIM:619099)
Gene: NEMF
Phenotype: Ataxia (HP:0001251)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY (OMIM:619099)
Gene: NEMF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY (OMIM:619099)
Gene: NEMF
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY (OMIM:619099)
Gene: NEMF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY (OMIM:619099)
Gene: NEMF
Phenotype: Tremor (HP:0001337)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY (OMIM:619099)
Gene: NEMF
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY (OMIM:619099)
Gene: NEMF
Phenotype: Respiratory distress (HP:0002098)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY (OMIM:619099)
Gene: NEMF
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY (OMIM:619099)