TaoMedAI/RareMedData huggingface dataset:
Gene: GMPPB
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Gene: GMPPB
Phenotype: Exercise intolerance (HP:0003546)
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: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Gene: GMPPB
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Facial palsy (HP:0010628)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Facial palsy (HP:0010628)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Scapular winging (HP:0003691)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Frequent falls (HP:0002359)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
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: GMPPB
Phenotype: Nystagmus (HP:0000639)
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: Nystagmus (HP:0000639)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Nystagmus (HP:0000639)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Gene: GMPPB
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Blindness (HP:0000618)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Distal lower limb muscle weakness (HP:0009053)
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: Generalized limb muscle atrophy (HP:0009055)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Decreased thalamic volume (HP:0012695)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Difficulty running (HP:0009046)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Generalized weakness of limb muscles (HP:0009028)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Olivopontocerebellar hypoplasia (HP:0006955)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
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: GMPPB
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Gene: GMPPB
Phenotype: Myopathy (HP:0003198)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Myopathy (HP:0003198)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
Phenotype: Muscle fiber tubular inclusions (HP:0100301)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Gene: GMPPB
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: GMPPB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
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: Ragged-red muscle fibers (HP:0003200)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Joint contracture (HP:0034392)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Abnormality of the tongue muscle (HP:0040173)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Hip dislocation (HP:0002827)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Reduced muscle fiber alpha dystroglycan (HP:0030099)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Reduced muscle fiber alpha dystroglycan (HP:0030099)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Microcephaly (HP:0000252)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Microcephaly (HP:0000252)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Microcephaly (HP:0000252)
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: Microcephaly (HP:0000252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Microcephaly (HP:0000252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Microcephaly (HP:0000252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Gene: GMPPB
Phenotype: Respiratory failure (HP:0002878)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: High palate (HP:0000218)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Gene: GMPPB
Phenotype: Increased jitter at single fiber EMG (HP:0030205)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Favorable response of weakness to acetylcholine esterase inhibitors (HP:0030202)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
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: GMPPB
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Fatigable weakness of skeletal muscles (HP:0030197)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
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: Abnormal peripheral nervous system synaptic transmission (HP:0030191)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Gene: GMPPB
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Cardiomyopathy (HP:0001638)
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: Dilatation of the ventricular cavity (HP:0006698)
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: Sensorineural hearing impairment (HP:0000407)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Strabismus (HP:0000486)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
Phenotype: Strabismus (HP:0000486)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Strabismus (HP:0000486)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Strabismus (HP:0000486)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Megalocornea (HP:0000485)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Ileal atresia (HP:0011102)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Neck muscle weakness (HP:0000467)
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: Pes planus (HP:0001763)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Cataract (HP:0000518)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 (OMIM:615350)
Gene: GMPPB
Phenotype: Cataract (HP:0000518)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Cataract (HP:0000518)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
Gene: GMPPB
Phenotype: Cataract (HP:0000518)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
Phenotype: Cataract (HP:0000518)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Cataract (HP:0000518)
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 iris morphology (HP:0000525)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Ptosis (HP:0000508)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 (OMIM:615351)
Gene: GMPPB
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GMPPB
Phenotype: Visual impairment (HP:0000505)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
Phenotype: Glaucoma (HP:0000501)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Coloboma (HP:0000589)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Retinal detachment (HP:0000541)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPB
Phenotype: Myopia (HP:0000545)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: GMPPB
Phenotype: Myopia (HP:0000545)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: GMPPB
Phenotype: Myopia (HP:0000545)
Associated disease: CMD with cerebellar involvement; Congenital muscular dystrophy with cerebellar involvement; CMD-CRB (ORPHA:370959)
Gene: GMPPA
Phenotype: Anisocoria (HP:0009916)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: High anterior hairline (HP:0009890)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Hypotonia (HP:0001252)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Hypotonia (HP:0001252)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)