TaoMedAI/RareMedData huggingface dataset:
Gene: GMPPB
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Meningocele (HP:0002435)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Poor head control (HP:0002421)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Poor head control (HP:0002421)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Poor head control (HP:0002421)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Gene: GMPPB
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Hypertonia (HP:0001276)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Hypertonia (HP:0001276)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Motor delay (HP:0001270)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Motor delay (HP:0001270)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Motor delay (HP:0001270)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Gene: GMPPB
Phenotype: Motor delay (HP:0001270)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Areflexia (HP:0001284)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Gene: GMPPB
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Seizure (HP:0001250)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Seizure (HP:0001250)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
Phenotype: Seizure (HP:0001250)
Associated disease: LGMD type 2T; GMPPB-related limb-girdle muscular dystrophy R19; GMPPB-related LGMD R19; Limb-girdle muscular dystrophy type 2T; LGMD2T; Autosomal recessive limb-girdle muscular dystrophy type 2T (ORPHA:363623)
Gene: GMPPB
Phenotype: Seizure (HP:0001250)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Seizure (HP:0001250)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Seizure (HP:0001250)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Gene: GMPPB
Phenotype: Hypotonia (HP:0001252)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
Phenotype: Hypotonia (HP:0001252)
Associated disease: LGMD type 2T; GMPPB-related limb-girdle muscular dystrophy R19; GMPPB-related LGMD R19; Limb-girdle muscular dystrophy type 2T; LGMD2T; Autosomal recessive limb-girdle muscular dystrophy type 2T (ORPHA:363623)
Gene: GMPPB
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Gene: GMPPB
Phenotype: Ataxia (HP:0001251)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LGMD type 2T; GMPPB-related limb-girdle muscular dystrophy R19; GMPPB-related LGMD R19; Limb-girdle muscular dystrophy type 2T; LGMD2T; Autosomal recessive limb-girdle muscular dystrophy type 2T (ORPHA:363623)
Gene: GMPPB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LGMD type 2T; GMPPB-related limb-girdle muscular dystrophy R19; GMPPB-related LGMD R19; Limb-girdle muscular dystrophy type 2T; LGMD2T; Autosomal recessive limb-girdle muscular dystrophy type 2T (ORPHA:363623)
Gene: GMPPB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
Phenotype: Abnormal pons morphology (HP:0007361)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: LGMD type 2T; GMPPB-related limb-girdle muscular dystrophy R19; GMPPB-related LGMD R19; Limb-girdle muscular dystrophy type 2T; LGMD2T; Autosomal recessive limb-girdle muscular dystrophy type 2T (ORPHA:363623)
Gene: GMPPB
Phenotype: Inability to walk (HP:0002540)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Waddling gait (HP:0002515)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Micropenis (HP:0000054)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: LGMD type 2T; GMPPB-related limb-girdle muscular dystrophy R19; GMPPB-related LGMD R19; Limb-girdle muscular dystrophy type 2T; LGMD2T; Autosomal recessive limb-girdle muscular dystrophy type 2T (ORPHA:363623)
Gene: GMPPB
Phenotype: Absent speech (HP:0001344)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Gene: GMPPB
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Scoliosis (HP:0002650)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Scoliosis (HP:0002650)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Macroglossia (HP:0000158)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Cleft palate (HP:0000175)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: LGMD type 2T; GMPPB-related limb-girdle muscular dystrophy R19; GMPPB-related LGMD R19; Limb-girdle muscular dystrophy type 2T; LGMD2T; Autosomal recessive limb-girdle muscular dystrophy type 2T (ORPHA:363623)
Gene: GMPPB
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: LGMD type 2T; GMPPB-related limb-girdle muscular dystrophy R19; GMPPB-related LGMD R19; Limb-girdle muscular dystrophy type 2T; LGMD2T; Autosomal recessive limb-girdle muscular dystrophy type 2T (ORPHA:363623)
Gene: GMPPB
Phenotype: Floppy infant (HP:0008947)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: LGMD type 2T; GMPPB-related limb-girdle muscular dystrophy R19; GMPPB-related LGMD R19; Limb-girdle muscular dystrophy type 2T; LGMD2T; Autosomal recessive limb-girdle muscular dystrophy type 2T (ORPHA:363623)
Gene: GMPPB
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Gene: GMPPB
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Decreased cervical spine mobility (HP:0004637)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: LGMD type 2T; GMPPB-related limb-girdle muscular dystrophy R19; GMPPB-related LGMD R19; Limb-girdle muscular dystrophy type 2T; LGMD2T; Autosomal recessive limb-girdle muscular dystrophy type 2T (ORPHA:363623)
Gene: GMPPB
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Gene: GMPPB
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: LGMD type 2T; GMPPB-related limb-girdle muscular dystrophy R19; GMPPB-related LGMD R19; Limb-girdle muscular dystrophy type 2T; LGMD2T; Autosomal recessive limb-girdle muscular dystrophy type 2T (ORPHA:363623)
Gene: GMPPB
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Muscle spasm (HP:0003394)
Associated disease: LGMD type 2T; GMPPB-related limb-girdle muscular dystrophy R19; GMPPB-related LGMD R19; Limb-girdle muscular dystrophy type 2T; LGMD2T; Autosomal recessive limb-girdle muscular dystrophy type 2T (ORPHA:363623)
Gene: GMPPB
Phenotype: Gowers sign (HP:0003391)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
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: GMPPB
Phenotype: Myopathic facies (HP:0002058)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Easy fatigability (HP:0003388)
Associated disease: LGMD type 2T; GMPPB-related limb-girdle muscular dystrophy R19; GMPPB-related LGMD R19; Limb-girdle muscular dystrophy type 2T; LGMD2T; Autosomal recessive limb-girdle muscular dystrophy type 2T (ORPHA:363623)
Gene: GMPPB
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: LGMD type 2T; GMPPB-related limb-girdle muscular dystrophy R19; GMPPB-related LGMD R19; Limb-girdle muscular dystrophy type 2T; LGMD2T; Autosomal recessive limb-girdle muscular dystrophy type 2T (ORPHA:363623)
Gene: GMPPB
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Clonus (HP:0002169)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
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: GMPPB
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Congenital onset (HP:0003577)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Congenital onset (HP:0003577)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Congenital onset (HP:0003577)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Gene: GMPPB
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: LGMD type 2T; GMPPB-related limb-girdle muscular dystrophy R19; GMPPB-related LGMD R19; Limb-girdle muscular dystrophy type 2T; LGMD2T; Autosomal recessive limb-girdle muscular dystrophy type 2T (ORPHA:363623)
Gene: GMPPB
Phenotype: Abnormality of connective tissue (HP:0003549)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)