TaoMedAI/RareMedData huggingface dataset:
Gene: FKTN
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
Gene: FKTN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Kinked brainstem (HP:0012793)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4 (OMIM:613152)
Gene: FKTN
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 1X (OMIM:611615)
Gene: FKTN
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FKTN
Phenotype: Myopathy (HP:0003198)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FKTN
Phenotype: Myopathy (HP:0003198)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKTN
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKTN
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CARDIOMYOPATHY, DILATED, 1X (OMIM:611615)
Gene: FKTN
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
Gene: FKTN
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4 (OMIM:613152)
Gene: FKTN
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Abnormal circulating lactate dehydrogenase concentration (HP:0045040)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FKTN
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FKTN
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Mask-like facies (HP:0000298)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Macrocephaly (HP:0000256)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Chorioretinal dysplasia (HP:0007731)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Congenital contracture (HP:0002803)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Reduced muscle fiber alpha dystroglycan (HP:0030099)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: FKTN
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKTN
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Microcephaly (HP:0000252)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: FKTN
Phenotype: Microcephaly (HP:0000252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Microcephaly (HP:0000252)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FKTN
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
Gene: FKTN
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: FKTN
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FKTN
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKTN
Phenotype: Weak cry (HP:0001612)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Low-set ears (HP:0000369)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Low-set ears (HP:0000369)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Myocardial fibrosis (HP:0001685)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Micrognathia (HP:0000347)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FKTN
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1X (OMIM:611615)
Gene: FKTN
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FKTN
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Corneal opacity (HP:0007957)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Corneal opacity (HP:0007957)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FKTN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FKTN
Phenotype: Strabismus (HP:0000486)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKTN
Phenotype: Strabismus (HP:0000486)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Megalocornea (HP:0000485)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Microcornea (HP:0000482)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: FKTN
Phenotype: Abnormal circulating aldolase concentration (HP:0012400)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Protruding ear (HP:0000411)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
Gene: FKTN
Phenotype: Cataract (HP:0000518)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Cataract (HP:0000518)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKTN
Phenotype: Cataract (HP:0000518)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Cataract (HP:0000518)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Cataract (HP:0000518)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Anophthalmia (HP:0000528)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Visual impairment (HP:0000505)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Visual impairment (HP:0000505)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKTN
Phenotype: Glaucoma (HP:0000501)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Glaucoma (HP:0000501)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKTN
Phenotype: Glaucoma (HP:0000501)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Glaucoma (HP:0000501)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Coloboma (HP:0000589)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: FKTN
Phenotype: Buphthalmos (HP:0000557)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Microphthalmia (HP:0000568)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Retinal detachment (HP:0000541)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Myopia (HP:0000545)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Myopia (HP:0000545)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKTN
Phenotype: Myopia (HP:0000545)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Myopia (HP:0000545)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FDFT1
Phenotype: Abnormality of hair pigmentation (HP:0009887)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Seizure (HP:0001250)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Elevated urinary mevalonate lactone level (HP:6000675)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Hypospadias (HP:0000047)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Constipation (HP:0002019)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Elevated methylhex-dienedioic level by MRS (HP:6000147)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Elevated circulating methylsuccinic acid concentration (HP:0033146)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Decreased LDL cholesterol concentration (HP:0003563)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Elevated urine mesaconic acid level (HP:6000465)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Elevated urine 3-methyladipic acid level (HP:6000466)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Irritability (HP:0000737)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Slender long bone (HP:0003100)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Increased circulating farnesol concentration (HP:0033083)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Dry skin (HP:0000958)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Epicanthus (HP:0000286)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Retrognathia (HP:0000278)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Micrognathia (HP:0000347)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)