| Diseases |
Alias |
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 14 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t
|
Lgmd2t
|
|
MDDGC14
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 19
|
|
Lgmdr19
|
Muscular Dystrophy Limb-Girdle Type 2t
|
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Gmppb-Related
|
Muscular Dystrophy, Limb-Girdle, Type 2t
|
|
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Gmppb-Related
|
Muscular Dystrophy-Dystroglycanopathy Type C14
|
|
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
|
Gmppb-Related Lgmd R19
|
|
Lgmd Type 2t
|
Limb-Girdle Muscular Dystrophy Type 2t
|
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C14
|
Dystrophy, Muscular, Limb-Girdle, Type 2t
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type A, 14 |
|
MDDGA14
|
Muscular Dystrophy-Dystroglycanopathy , Type A14
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Gmppb-Related
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A14
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Gmppb-Related
|
Dystrophy, Muscular, Dystroglycanopathy , Type A14
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 14 |
|
MDDGB14
|
Congenital Muscular Dystrophy Gmppb-Related
|
|
Muscular Dystrophy-Dystroglycanopathy , Type B14
|
Muscular Dystrophy, Congenital, Gmppb-Related
|
|
Muscular Dystrophy-Dystroglycanopathy Type B14
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B14
|
|
Dystrophy, Muscular, Dystroglycanopathy , Type B14
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy A14 |
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A14
|
Mddga14
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Gmppb-Related
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A 14
|
|
|
| Muscular Dystrophy-Dystroglycanopathy |
|
Cmd Due To Dystroglycanopathy
|
Congenital Muscular Dystrophy Due To Dystroglycanopathy
|
|
Mddg
|
Dystrophy, Muscular, Dystroglycanopathy
|
|
|
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cmd With Cerebellar Involvement
|
Cmd-Crb
|
|
|
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Cmd With Intellectual Disability
|
Cmd-Mr
|
|
|
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
|
| Muscular Dystrophy |
|
Muscular Dystrophies
|
Congenital Md
|
|
Congenital Muscular Dystrophy
|
Cmd
|
|
Mdc
|
Dystrophy, Muscular
|
|
Gower'S Muscular Dystrophy
|
Progressive Musclular Dystrophy
|
|
Pseudohypertrophic Atrophy
|
Pseudohypertrophic Muscle Paralysis
|
|
Pseudohypertrophic Muscular Atrophy
|
Pseudohypertrophic Muscular Dystrophy
|
|
Pseudohypertrophic Paralysis
|
Pseudomuscular Hypertrophy
|
|
|
| Muscle Eye Brain Disease |
|
Muscle-Eye-Brain Disease
|
Muscle-Eye-Brain Syndrome
|
|
Meb
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3
|
|
Meb Syndrome
|
Santavuori Congenital Muscular Dystrophy
|
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
Elevated Serum Cpk
|
Idiopathic Hyperckemia
|
|
Isolated Hyperckemia
|
Elevated Serum Creatine Phosphokinase
|
|
H-Ck
|
Idiopathic Persistent Elevation Of Serum Creatine Kinase
|
|
|
| Creatine Phosphokinase, Elevated Serum |
|
Hyperckemia, Idiopathic
|
Cpk, Elevated Serum
|
|
Hyperckmia
|
HYPCK
|
|
|
| Walker-Warburg Syndrome |
|
Hard Syndrome
|
Walker-Warburg Congenital Muscular Dystrophy
|
|
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
|
Cod-Md Syndrome
|
|
Chemke Syndrome
|
Hydrocephalus, Agyria And Retinal Dysplasia
|
|
Cerebroocular Dysgenesis
|
Cerebroocular Dysplasia Muscular Dystrophy Syndrome
|
|
Hard +/- E Syndrome
|
Pagon Syndrome
|
|
Warburg Syndrome
|
Hydrocephalus, Agyria, And Retinal Dysplasia
|
|
Mddga
|
Muscular Dystrophy-Dystroglycanopathy , Type A
|
|
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A
|
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
|
|
Wws
|
Dystrophy, Muscular, Dystroglycanopathy, Type A
|
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Lgmd2b
|
Muscular Dystrophy, Limb-Girdle, Type 2b
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e
|
Beta-Sarcoglycanopathy
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y
|
Muscular Dystrophy, Limb-Girdle, Type 3
|
|
Lgmd3
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
|
|
LGMDR2
|
Muscular Dystrophy, Limb-Girdle, Type 2s
|
|
Limb-Girdle Muscular Dystrophy Type 2b
|
Lgmd2e
|
|
Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency
|
Muscular Dystrophy, Limb-Girdle, Type 2e
|
|
Lgmd2s
|
Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency
|
|
Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency
|
Lgmd2y
|
|
Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine
|
Muscular Dystrophy, Limb-Girdle, Type 2y
|
|
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
|
|
Dysferlin-Related Lgmd R2
|
Lgmd Due To Dysferlin Deficiency
|
|
Lgmd Type 2b
|
Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
|
|
Limb-Girdle Muscular Dystrophy 2b
|
Limb-Girdle Muscular Dystrophy, Type 2b
|
|
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2
|
Dystrophy, Muscular, Limb-Girdle, Type 2b
|
|
Limb-Girdle Muscular Dystrophy, Type 2e
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Plectin Deficiency
|
Lgmd2q
|
|
Muscular Dystrophy, Limb-Girdle, Type 2q
|
|
|
| Cerebellar Hypoplasia |
|
|
| Congenital Myasthenic Syndrome |
|
Congenital Myasthenia
|
Congenital Myasthenic Syndromes
|
|
Cms
|
Myasthenic Syndromes, Congenital
|
|
Myasthenic Syndromes Congenital
|
Myasthenic Syndrome, Congenital
|
|
Congenital Myasthenic Syndrome Ib
|
Congenital And Developmental Myasthenia
|
|
Developmental Myasthenia
|
|
|
| Alacrima, Achalasia, And Mental Retardation Syndrome |
|
AAMR
|
Alacrima, Achalasia, And Intellectual Disability Syndrome
|
|
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
|
Intellectual Disability
|
|
|
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Congenital Muscular Dystrophy
|
Congenital Muscular Dystrophy Due To Lmna Mutation
|
|
MDCL
|
L-Cmd
|
|
Lmna-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy, Congenital
|
|
Congenital Muscular Dystrophy Lmna-Related
|
Lmna-Related Cmd
|
|
Cmd
|
Mdc
|
|
Muscular Dystrophy Congenital Lmna-Related
|
Dystrophy, Muscular, Congenital, Lmna-Related
|
|
Dystrophy, Muscular, Congenital
|
Hereditary Muscular Dystrophy
|
|
Congenital Hereditary Muscular Dystrophy
|
Congenital Progressive Muscular Dystrophy
|
|
Hereditary Progressive Muscular Dystrophy
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 3 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o
|
MDDGC3
|
|
Lgmd2o
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15
|
|
Lgmdr15
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related
|
|
Muscular Dystrophy, Limb-Girdle, Type 2o
|
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related
|
|
Muscular Dystrophy-Dystroglycanopathy Type C3
|
Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15
|
|
Lgmd Type 2o
|
Limb-Girdle Muscular Dystrophy Type 2o
|
|
Pomgnt1-Related Lgmd R15
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3
|
|
Dystrophy, Muscular, Limb-Girdle, Type 2o
|
|
|
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency
|
Muscular Dystrophy, Congenital, Due To Itga7 Deficiency
|
|
Congenital Muscular Dystrophy With Integrin Alpha-7 Deficiency
|
Congenital Muscular Dystrophy With Itga7 Deficiency
|
|
Congenital Myopathy Due To Integrin Alpha-7 Deficiency
|
Myopathy, Congenital, Due To Integrin Alpha-7 Deficiency
|
|
Muscular Dystrophy Congenital Due To Integrin Alpha-7 Deficiency
|
MDCI
|
|
Dystrophy, Muscular, Congenital, Due To Integrin Alpha-7 Deficiency
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 2 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n
|
Lgmd2n
|
|
MDDGC2
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14
|
|
Lgmdr14
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related
|
|
Limb-Girdle Muscular Dystrophy Type 2n
|
Muscular Dystrophy, Limb-Girdle, Type 2n
|
|
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related
|
Muscular Dystrophy-Dystroglycanopathy Type C 2
|
|
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
|
Lgmd Type 2n
|
|
Pomt2-Related Lgmd R14
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2
|
|
Mdgd2c
|
Dystrophy, Muscular, Limb-Girdle, Type 2n
|
|
|
| Neuromuscular Junction Disease |
|
Neuromuscular Junction Diseases
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 1 |
|
MDDGB1
|
Muscular Dystrophy-Dystroglycanopathy , Type B1
|
|
Muscular Dystrophy, Congenital, Pomt1-Related
|
Muscular Dystrophy-Dystroglycanopathy Type B1
|
|
Cmd Due To Dystroglycanopathy
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1
|
|
Muscular Dystrophy Congenital Pomt1-Related
|
Muscular Dystrophy-Dystroglycanopathy
|
|
Dystrophy, Muscular, Dystroglycanopathy , Type B1
|
|
|
| Muscular Dystrophy, Congenital, 1b |
|
MDC1B
|
Congenital Muscular Dystrophy 1b
|
|
Cmd1b
|
Congenital Muscular Dystrophy Type 1b
|
|
Familial Dilated Cardiomyopathy
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 7 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2u
|
Lgmd2u
|
|
MDDGC7
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 20
|
|
Lgmdr20
|
Muscular Dystrophy, Limb-Girdle, Type 2u
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Ispd Deficiency
|
Muscular Dystrophy Limb-Girdle Type 2u
|
|
Muscular Dystrophy-Dystroglycanopathy Type C7
|
Ispd-Related Limb-Girdle Muscular Dystrophy R20
|
|
Ispd-Related Lgmd R20
|
Lgmd Type 2u
|
|
Limb-Girdle Muscular Dystrophy Type 2u
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C7
|
|
Dystrophy, Muscular, Dystroglycanopathy, Type C7
|
|
|
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple Pterygium Syndrome
|
Pterygium
|
|
Escobar Syndrome
|
EVMPS
|
|
Pterygium Syndrome
|
Autosomal Recessive Multiple Pterygium Syndrome
|
|
Pterygium Colli Syndrome
|
Pterygium Universale
|
|
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome
|
Escobar Variant Multiple Pterygium Syndrome
|
|
Multiple Pterygium Syndrome, Nonlethal Type
|
Surfer'S Eye
|
|
Multiple Pterygium Syndrome Escobar Type
|
Multiple Pterygium Syndrome Nonlethal Type
|
|
Familial Pterygium Syndrome
|
Pterygium Colli
|
|
Multiple Pterygium Syndrome, Non-Lethal Type
|
Nonlethal Type Multiple Pterygium Syndrome
|
|
Pterygium Syndrome, Multiple, Escobar Type
|
Pterygium Of Eye
|
|
Web Eye
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 4 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m
|
Lgmd2m
|
|
MDDGC4
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13
|
|
Lgmdr13
|
Muscular Dystrophy, Limb-Girdle, Type 2m
|
|
Muscular Dystrophy-Dystroglycanopathy Type C 4
|
Fukutin-Related Limb-Girdle Muscular Dystrophy R13
|
|
Autosomal Recessive Lgmd Type 2m
|
Fukutin-Related Lgmd R13
|
|
Lgmd Type 2m
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4
|
|
Limb-Girdle Muscular Dystrophy Type 2m
|
Mdgd4c
|
|
Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 4c
|
Dystrophy, Muscular, Limb-Girdle, Type 2m
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A |
|
Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies
|
Mddga
|
|
Klissencephaly Type 2 With Muscular And Ocular Involvement
|
Lissencephaly Type 2 With Muscular And Ocular Involvement
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
|
Lgmd2i
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i
|
|
MDDGC5
|
Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency
|
|
Limb-Girdle Muscular Dystrophy Type 2i
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9
|
|
Lgmdr9
|
Muscular Dystrophy, Limb-Girdle, Type 2i
|
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related
|
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
|
|
Fkrp-Related Lgmd R9
|
Lgmd Due To Fkrp Deficiency
|
|
Lgmd Type 2i
|
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related
|
|
Muscular Dystrophy Limb-Girdle Type 2i
|
Muscular Dystrophy-Dystroglycanopathy Type C 5
|
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5
|
Dystrophy, Muscular, Limb-Girdle, Type 2i
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x |
|
Lgmd2x
|
Muscular Dystrophy, Limb-Girdle, Type 2x
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type A, 4 |
|
Fukuyama Congenital Muscular Dystrophy
|
Fcmd
|
|
MDDGA4
|
Fukuyama Type Congenital Muscular Dystrophy
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related
|
Cerebromuscular Dystrophy, Fukuyama Type
|
|
Fukuyama Cmd
|
Fukuyama Muscular Dystrophy
|
|
Fukuyama Syndrome
|
Muscular Dystrophy, Congenital Progressive, With Mental Retardation
|
|
Muscular Dystrophy, Congenital, Fukuyama Type
|
Muscular Dystrophy, Congenital, With Central Nervous System Involvement
|
|
Polymicrogyria With Muscular Dystrophy
|
Congenital Muscular Dystrophy, Fukuyama Type
|
|
Fktn-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4
|
|
Cerebromuscular Dystrophy Fukuyama Type
|
Congenital Muscular Dystrophy Fukuyama Type
|
|
Micropolygyria With Muscular Dystrophy
|
Muscle-Eye-Brain Disease Fktn-Related
|
|
Walker-Warburg Syndrome Fktn-Related
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
|
|
| Muscular Dystrophy, Congenital Merosin-Deficient, 1a |
|
MDC1A
|
Lama2-Related Muscular Dystrophy
|
|
Atrophie Blanche
|
Muscular Dystrophy, Congenital Merosin-Deficient
|
|
Congenital Merosin-Deficient Muscular Dystrophy 1a
|
Merosin-Negative Congenital Muscular Dystrophy
|
|
Muscular Dystrophy White Matter Spongiosis
|
Merosin Deficient Congenital Muscular Dystrophy
|
|
Muscular Dystrophy Congenital, Merosin Negative
|
Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient
|
|
Cmd1a
|
Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency
|
|
Congenital Muscular Dystrophy Type 1a
|
Laminin Alpha-2 Deficiency
|
|
Merosin-Deficient Congenital Muscular Dystrophy
|
Muscular Dystrophy, Congenital, Merosin-Deficient
|
|
Lama2 Md
|
Laminin Alpha 2 Deficiency
|
|
Laminin Alpha-2 Deficient Muscular Dystrophy
|
Merosin-Deficient Muscular Dystrophy
|
|
Muscular Dystrophy Due To Lama2 Deficiency
|
Merosin-Deficient Congenital Muscular Dystrophy 1a
|
|
Cardiomyopathy, Familial Idiopathic
|
|
|
| Granulomatous Amebic Encephalitis |
|
Granulomatous Amoebic Encephalitis
|
Acanthamoeba Encephalitis
|
|
Acanthamoeba Granulomatous Encephalitis
|
Granulomatous Amebic Encephalitis Due To Acanthamoeba
|
|
|
| Distal Arthrogryposis |
|
Arthrogryposis Multiplex Congenita
|
Arthrogryposis
|
|
Congenital Multiple Arthrogryposis
|
Congenital Arthromyodysplasia
|
|
Fibrous Ankylosis Of Multiple Joints
|
Guerin-Stern Syndrome
|
|
Guérin-Stern Syndrome
|
Myodystrophia Fetalis Deformans
|
|
Otto Syndrome
|
Rocher-Sheldon Syndrome
|
|
Rossi Syndrome
|
Amc
|
|
Multiple Congenital Arthrogryposis
|
Arthrogryposis Syndrome
|
|
Arthrogryposis, Distal
|
Distal Arthrogryposis Syndrome
|
|
Freeman-Sheldon Syndrome
|
Arthrogryposis, Distal, Type 2b
|
|
Congenital Multiplex Arthrogryposis
|
Amyoplasia Congenita
|
|
Congenital Amyoplasia
|
Amc - [Arthrogryposis Multiplex Congenita]
|
|
|
| Marinesco-Sjogren Syndrome |
|
Marinesco-Sjögren Syndrome
|
MSS
|
|
Marinesco-Garland Syndrome
|
Garland-Moorhouse Syndrome
|
|
Hereditary Oligophrenic Cerebello-Lental Degeneration
|
Oligophrenic Cerebellolenticular Degeneration
|
|
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism
|
Marinesco-Sjogren Syndrome-Myopathy
|
|
Marinesco-Sjogren-Garland Syndrome
|
Marinesco-Sjoegren Syndrome
|
|
|
| Limb-Girdle Muscular Dystrophy |
|
Lgmd
|
Limb Girdle Muscular Dystrophy
|
|
Muscular Dystrophies, Limb-Girdle
|
Erb'S Muscular Dystrophy
|
|
Leyden-Mbius Muscular Dystrophy
|
Limb-Girdle Syndrome
|
|
Myopathic Limb-Girdle Syndrome
|
Limb Girdle
|
|
Muscular Dystrophy Limb-Girdle
|
Dystrophy, Muscular, Limb-Girdle
|
|
Lgmd - [Limb-Girdle Muscular Dystrophy]
|
Limb Girdle Muscle Dystrophy
|
|
Limb-Girdle Myopathy
|
|
|
| Sensorineural Hearing Loss |
|
Sensory Hearing Loss
|
Sensorineural Deafness
|
|
Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
|
Central Hearing Loss
|
High Frequency Deafness
|
|
High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
|
Perceptive Deafness
|
Perceptive Hearing Loss
|
|
Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
|
| Bethlem Myopathy 1 |
|
Bethlem Myopathy
|
Myopathy, Benign Congenital, With Contractures
|
|
Muscular Dystrophy, Benign Congenital
|
BTHLM1
|
|
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5
|
Lgmdd5
|
|
Benign Congenital Muscular Dystrophy
|
Benign Autosomal Dominant Myopathy
|
|
Myopathy, Bethlem
|
Myopathy, Bethlem, Type 1
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Congenital Disorder Of Glycosylation, Type In |
|
Congenital Disorder Of Glycosylation
|
CDG1N
|
|
Congenital Disorders Of Glycosylation
|
Cdg In
|
|
Cdgin
|
Congenital Disorder Of Glycosylation 1n
|
|
Carbohydrate-Deficient Glycoprotein Syndrome
|
Cdg
|
|
Rft1-Cdg
|
Cdg-In
|
|
Congenital Disorder Of Glycosylation Type In
|
Carbohydrate Deficient Glycoprotein Syndrome
|
|
Cdg Syndrome
|
Congenital Disorder Of Glycosylation In
|
|
Carbohydrate-Deficient Glycoprotein Syndromes
|
Cdg Syndrome Type In
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type In
|
Congenital Disorder Of Glycosylation Type 1n
|
|
Man5glcnac2-Pp-Dol Flippase Deficiency
|
Glycosylation, Congenital Disorder Of
|
|
Glycosylation, Congenital Disorder Of, Type In
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
