TaoMedAI/RareMedData huggingface dataset:
Gene: FKRP
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: LGMD type 2I; FKRP-related limb-girdle muscular dystrophy R9; LGMD due to FKRP deficiency; Limb-girdle muscular dystrophy due to FKRP deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2I; LGMD2I; FKRP-related LGMD R9; Limb-girdle muscular dystrophy type 2I (ORPHA:34515)
Gene: FKRP
Phenotype: Floppy infant (HP:0008947)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: FKRP
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: FKRP
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 (OMIM:613153)
Gene: FKRP
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: FKRP
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
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: FKRP
Phenotype: Anal atresia (HP:0002023)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: FKRP
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: FKRP
Phenotype: Myalgia (HP:0003326)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 (OMIM:607155)
Gene: FKRP
Phenotype: Myalgia (HP:0003326)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
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: FKRP
Phenotype: Dysphagia (HP:0002015)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 (OMIM:607155)
Gene: FKRP
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
Phenotype: Decreased cervical spine mobility (HP:0004637)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: FKRP
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
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: FKRP
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: FKRP
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKRP
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: FKRP
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 (OMIM:613153)
Gene: FKRP
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 (OMIM:607155)
Gene: FKRP
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
Phenotype: Muscle spasm (HP:0003394)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 (OMIM:607155)
Gene: FKRP
Phenotype: Muscle spasm (HP:0003394)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
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: FKRP
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: FKRP
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: FKRP
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: FKRP
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: FKRP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKRP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: FKRP
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: FKRP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: FKRP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 (OMIM:613153)
Gene: FKRP
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKRP
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKRP
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: FKRP
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
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: FKRP
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 (OMIM:613153)
Gene: FKRP
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: FKRP
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
Phenotype: Clonus (HP:0002169)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: FKRP
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: FKRP
Phenotype: Metatarsus valgus (HP:0010508)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKRP
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKRP
Phenotype: Congenital onset (HP:0003577)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Congenital onset (HP:0003577)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
Phenotype: Congenital onset (HP:0003577)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 (OMIM:613153)
Gene: FKRP
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 (OMIM:607155)
Gene: FKRP
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: LGMD type 2I; FKRP-related limb-girdle muscular dystrophy R9; LGMD due to FKRP deficiency; Limb-girdle muscular dystrophy due to FKRP deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2I; LGMD2I; FKRP-related LGMD R9; Limb-girdle muscular dystrophy type 2I (ORPHA:34515)
Gene: FKRP
Phenotype: Abnormality of connective tissue (HP:0003549)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: FKRP
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: LGMD type 2I; FKRP-related limb-girdle muscular dystrophy R9; LGMD due to FKRP deficiency; Limb-girdle muscular dystrophy due to FKRP deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2I; LGMD2I; FKRP-related LGMD R9; Limb-girdle muscular dystrophy type 2I (ORPHA:34515)
Gene: FKRP
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 (OMIM:607155)
Gene: FKRP
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKRP
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 (OMIM:607155)
Gene: FKRP
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: LGMD type 2I; FKRP-related limb-girdle muscular dystrophy R9; LGMD due to FKRP deficiency; Limb-girdle muscular dystrophy due to FKRP deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2I; LGMD2I; FKRP-related LGMD R9; Limb-girdle muscular dystrophy type 2I (ORPHA:34515)
Gene: FKRP
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: FKRP
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: FKRP
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 (OMIM:613153)
Gene: FKRP
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: FKRP
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: FKRP
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 (OMIM:613153)
Gene: FKRP
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: FKRP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: FKRP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 (OMIM:613153)
Gene: FKRP
Phenotype: Facial palsy (HP:0010628)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: FKRP
Phenotype: Facial palsy (HP:0010628)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
Phenotype: Exercise-induced myoglobinuria (HP:0008305)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 (OMIM:607155)
Gene: FKRP
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: FKRP
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 (OMIM:613153)
Gene: FKRP
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: FKRP
Phenotype: Frequent falls (HP:0002359)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 (OMIM:607155)
Gene: FKRP
Phenotype: Frequent falls (HP:0002359)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
Phenotype: Frequent falls (HP:0002359)
Associated disease: LGMD type 2I; FKRP-related limb-girdle muscular dystrophy R9; LGMD due to FKRP deficiency; Limb-girdle muscular dystrophy due to FKRP deficiency; Autosomal recessive limb-girdle muscular dystrophy type 2I; LGMD2I; FKRP-related LGMD R9; Limb-girdle muscular dystrophy type 2I (ORPHA:34515)
Gene: FKRP
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: FKRP
Phenotype: Agenesis of cerebellar vermis (HP:0002335)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 (OMIM:613153)
Gene: FKRP
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKRP
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: FKRP
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 (OMIM:613153)
Gene: FKRP
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: FKRP
Phenotype: Abnormal cerebellar vermis morphology (HP:0002334)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKRP
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: FKRP
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
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: FKRP
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: FKRP
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Gene: FKRP
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 (OMIM:613153)
Gene: FKRP
Phenotype: Agyria (HP:0031882)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 (OMIM:613153)
Gene: FKRP
Phenotype: Agyria (HP:0031882)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Fusion of the cerebellar hemispheres (HP:0006899)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: FKRP
Phenotype: Meningoencephalocele (HP:0006888)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: FKRP
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Optic atrophy (HP:0000648)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKRP
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: FKRP
Phenotype: Blindness (HP:0000618)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Blindness (HP:0000618)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: FKRP
Phenotype: Iris coloboma (HP:0000612)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: FKRP
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: FKRP
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: FKRP
Phenotype: Decreased thalamic volume (HP:0012695)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)