TaoMedAI/RareMedData huggingface dataset:
Gene: FKTN
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
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 cerebral white matter morphology (HP:0002500)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4 (OMIM:613152)
Gene: FKTN
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
Gene: FKTN
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Hypoplastic male external genitalia (HP:0000050)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Facial diplegia (HP:0001349)
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: Holoprosencephaly (HP:0001360)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKTN
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Specific learning disability (HP:0001328)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Absent speech (HP:0001344)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Lissencephaly (HP:0001339)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Lissencephaly (HP:0001339)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, DILATED, 1X (OMIM:611615)
Gene: FKTN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
Gene: FKTN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4 (OMIM:613152)
Gene: FKTN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Pachygyria (HP:0001302)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Pachygyria (HP:0001302)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Pachygyria (HP:0001302)
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: Pachygyria (HP:0001302)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 1X (OMIM:611615)
Gene: FKTN
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Neonatal hypotonia (HP:0001319)
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: Bifid uvula (HP:0000193)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Cleft palate (HP:0000175)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Cleft palate (HP:0000175)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: CARDIOMYOPATHY, DILATED, 1X (OMIM:611615)
Gene: FKTN
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
Gene: FKTN
Phenotype: Aplasia/Hypoplasia involving the skeletal musculature (HP:0001460)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Kyphoscoliosis (HP:0002751)
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: Anal atresia (HP:0002023)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Myalgia (HP:0003326)
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: Hyperlordosis (HP:0003307)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
Gene: FKTN
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
Gene: FKTN
Phenotype: Generalized muscle weakness (HP:0003324)
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: Generalized muscle weakness (HP:0003324)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4 (OMIM:613152)
Gene: FKTN
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Encephalocele (HP:0002084)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKTN
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Muscle spasm (HP:0003394)
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: Gowers sign (HP:0003391)
Associated disease: CARDIOMYOPATHY, DILATED, 1X (OMIM:611615)
Gene: FKTN
Phenotype: Gowers sign (HP:0003391)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
Gene: FKTN
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Peroneal muscle weakness (HP:0011727)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
Gene: FKTN
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FKTN
Phenotype: Mildly elevated creatine kinase (HP:0008180)
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: Ventriculomegaly (HP:0002119)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Ventriculomegaly (HP:0002119)
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: EMG abnormality (HP:0003457)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: FKTN
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKTN
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: EMG: myopathic abnormalities (HP:0003458)
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: Intellectual disability, profound (HP:0002187)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKTN
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Metatarsus valgus (HP:0010508)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 1X (OMIM:611615)
Gene: FKTN
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
Gene: FKTN
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4 (OMIM:613152)
Gene: FKTN
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Congenital onset (HP:0003577)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
Gene: FKTN
Phenotype: Muscular dystrophy (HP:0003560)
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: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4 (OMIM:613152)
Gene: FKTN
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: CARDIOMYOPATHY, DILATED, 1X (OMIM:611615)
Gene: FKTN
Phenotype: Gray matter heterotopia (HP:0002282)
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: Cerebellar dysplasia (HP:0007033)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Frequent falls (HP:0002359)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
Gene: FKTN
Phenotype: Frequent falls (HP:0002359)
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: Progressive (HP:0003676)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
Gene: FKTN
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKTN
Phenotype: Cerebellar cyst (HP:0002350)
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: Cerebellar cyst (HP:0002350)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Abnormal cerebellar vermis morphology (HP:0002334)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Proximal amyotrophy (HP:0007126)
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: Juvenile onset (HP:0003621)
Associated disease: CARDIOMYOPATHY, DILATED, 1X (OMIM:611615)
Gene: FKTN
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Agyria (HP:0031882)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Agyria (HP:0031882)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Meningoencephalocele (HP:0006888)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)
Gene: FKTN
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKTN
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Optic atrophy (HP:0000648)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Gene: FKTN
Phenotype: Blindness (HP:0000618)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Iris coloboma (HP:0000612)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKTN
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Scapular muscle atrophy (HP:0009060)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
Gene: FKTN
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 1X (OMIM:611615)
Gene: FKTN
Phenotype: Peters anomaly (HP:0000659)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKTN
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKTN
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKTN
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Congenital muscular dystrophy, Fukuyama type; Fukuyama congenital muscular dystrophy; FKTN-related congenital muscular dystrophy; FCMD (ORPHA:272)