Gene Summary

Name:
beta-1,4-glucuronyltransferase 1
Synonyms:
1500032M01Rik,  B3gnt1,  iGNT,  B3gnt6,  BETA3GNT1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis B4gat1tm1.1(KOMP)Vlcg HOM   E9.5 0.00
decreased thigmotaxis B4gat1tm1.1(KOMP)Vlcg HET Early adult 6.65×10-05
hyperactivity B4gat1tm1.1(KOMP)Vlcg HET Early adult 3.93×10-06
embryonic lethality prior to tooth bud stage B4gat1tm1.1(KOMP)Vlcg HOM   E12.5 0.00
preweaning lethality, complete penetrance B4gat1tm1.1(KOMP)Vlcg HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Cerebellum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 50% (1 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 33.33% (2 of 6)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 33.33% (2 of 6)
Embryo N/A heterozygote 33.33% (2 of 6)
Eye N/A heterozygote 33.33% (2 of 6)
Footplate N/A heterozygote 0.0% (0 of 6)
Forebrain N/A heterozygote 33.33% (2 of 6)
Forelimb N/A heterozygote 0.0% (0 of 6)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 6)
Head N/A heterozygote 0.0% (0 of 6)
Heart N/A heterozygote 0.0% (0 of 6)
Hindbrain N/A heterozygote 33.33% (2 of 6)
Hindlimb N/A heterozygote 0.0% (0 of 6)
Liver N/A heterozygote 0.0% (0 of 6)
Lung N/A heterozygote 33.33% (2 of 6)
Mandibular process N/A heterozygote 0.0% (0 of 6)
Maxillary process N/A heterozygote 0.0% (0 of 6)
Midbrain N/A heterozygote 33.33% (2 of 6)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 6)
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 6)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 6)
Tail N/A heterozygote 0.0% (0 of 6)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

48 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Embryo LacZ

LacZ images wholemount

24 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by B4gat1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to B4gat1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Hydrocephalus, Agenesis of corpus callosu... ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Hydrocephalus, Communicating hydrocephalus, Muscular dystrophy, Hydromyeli... OMIM:615287

The table below shows human diseases predicted to be associated to B4gat1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Basal Ganglia Calcification, Idiopathic, 4
Bipolar affective disorder, Attention deficit hyperactivity disorder, Depression OMIM:615007
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity OMIM:300830
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Severe Primary Trimethylaminuria
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression ORPHA:468726
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies OMIM:615426
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Familial Alzheimer-Like Prion Disease
Emotional lability, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:280397
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Distal lower limb muscle w... OMIM:601954
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo... OMIM:158901
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atr... OMIM:604286
Miyoshi Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Proximal amyotrophy, Shoul... ORPHA:45448
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Muscular dystrophy, Type II lissencephaly, Hydrocephalus OMIM:614830
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Miyoshi Muscular Dystrophy 3
Quadriceps muscle atrophy, Distal lower limb muscle weakness, Muscular dystrophy, Quadriceps musc... OMIM:613319
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Quadriceps muscle atrophy, Shoulder girdle muscle weakness, Muscular dystrophy, EMG: myopathic ab... OMIM:611307
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Neuronopathy, Distal Hereditary Motor, Type Viib
Distal amyotrophy, Hand muscle weakness, Lower limb muscle weakness, Weakness of facial musculatu... OMIM:607641
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Proximal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Muscle eosinophilia, Scapula... OMIM:253600
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus, Trapezius muscle aplasia OMIM:600257
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Death in childhood, Type II lissencephaly, Hydrocephalus, Left ventricular hypertrophy, Muscular ... OMIM:613153
Muscular Dystrophy, Progressive Pectorodorsal
Muscular dystrophy, Shoulder girdle muscle weakness, Scapular winging OMIM:310095
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Facial diplegia, EMG: myopathic abn... ORPHA:370980
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dy... OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Shoulder girdle muscle weakness, Autophagic vacuoles, Muscular dystrophy, EMG: myopathic abnormal... OMIM:608423
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Lower limb muscle weakness, Pelvic girdle amyotrophy, Hamstring contractures, Muscular dystrophy,... ORPHA:267
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Fatty replacement of s... OMIM:608807
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Scapulohumeral muscular dystrophy, Myopathy OMIM:160570
Spinal Muscular Atrophy, Type Iii
Spinal muscular atrophy, Shoulder girdle muscle weakness, Hand tremor, Lower limb muscle weakness... OMIM:253400
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Deposits immunoreactive to bet... OMIM:254130
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Lower limb amyotrophy, Proximal muscle w... ORPHA:482601
Intellectual Developmental Disorder, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Chudley-Mccullough Syndrome
Polymicrogyria, Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly, Dysplas... OMIM:604213
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Muscle fiber splitting, Muscular dystrophy, Scapular winging, Ce... OMIM:601846
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgA level, Decreased circulating Ig... OMIM:606843
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy, Limb-girdle muscle weakness OMIM:616094
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Hand muscle atrophy, Segmental spinal muscular atrophy OMIM:183020
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Weakness of facial mu... OMIM:619566
Neuronopathy, Distal Hereditary Motor, Type Va
Thenar muscle weakness, Distal amyotrophy, First dorsal interossei muscle atrophy, Upper limb mus... OMIM:600794
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy OMIM:254100
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Muscular dystrophy, Abn... ORPHA:34515
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Distal lower limb amyotrophy, Peroneal muscle atrophy, Neck joint contracture, Distal lower limb ... OMIM:181350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities... OMIM:253601
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Torticollis, Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Congenital muscular d... OMIM:613204
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Macroglossia, Muscular dystrophy, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Achi... OMIM:608840
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Hydrocephalus OMIM:615938
Muscular Dystrophy, Congenital, 1B
Shoulder girdle muscle weakness, Sternocleidomastoid amyotrophy, Pectoralis amyotrophy, Achilles ... OMIM:604801
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... OMIM:613818
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Calf muscle hypertrophy, Muscular dystrophy, Proximal amyotrophy, Scapular winging OMIM:601287
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Hydrocephalus, Muscular dystrophy, Facial palsy, Congenital muscular dystrophy, Cal... OMIM:613155
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Spinal Muscular Atrophy, Type Ii
Spinal muscular atrophy, Degeneration of anterior horn cells, Hand tremor, Skeletal muscle atrophy OMIM:253550
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle atrophy, Neonata... OMIM:611369
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Ventriculomegaly, Congenital muscu... ORPHA:324416
Myopathy, Myofibrillar, 2
Leg muscle stiffness, Shoulder girdle muscle weakness, Muscle fiber splitting, Lower limb muscle ... OMIM:608810
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:608106
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Shoulder girdle muscle weakness, Muscle fiber splitting, Muscular dystrophy, Facial palsy, Rimmed... OMIM:603511
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly, Camptodactyly of finger, Myopathy, Hydrocephalus, Muscular dystrophy, Hypo... ORPHA:272
Lissencephaly 1
Gray matter heterotopia, Ventriculomegaly, Pachygyria, Agyria, Lissencephaly, Subcortical band he... OMIM:607432
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Myopathy, Muscular dystrophy, Scapular winging, Centrally nucleated skeletal... OMIM:612999
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Joint contr... OMIM:610099
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertrophy, Flexion con... OMIM:609308
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Polymicrogyria, Hydrocephalus OMIM:615937
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:605258
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy OMIM:254000
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy OMIM:253590
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Spinal Muscular Atrophy, Type Iv
Quadriceps muscle atrophy, Proximal amyotrophy, Spinal muscular atrophy, Hand tremor, Type 1 musc... OMIM:271150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Flexion contracture, Muscular dystrophy, Skeletal muscle atrophy OMIM:613723
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Muscular dystrophy OMIM:613152
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Ventriculomegaly, Kinetic tremor, Normal pressure hydrocephalus OMIM:611808
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormality of neuronal migration, Hydrocephalus OMIM:618709
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Gray matter heterotopia, Ventriculomegaly, Pachygyria, Agyria ORPHA:1084
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atroph... OMIM:606612
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness ORPHA:263494
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Achilles tendon contracture, Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging ORPHA:62
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Muscular dystrophy, Polymicrogyria, Type II lissencephaly, Hydrocephalus OMIM:615181
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Subcortical band heterotopia OMIM:615411
Lissencephaly 3
Polymicrogyria, Ventriculomegaly, Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Per... OMIM:611603
Congenital Disorder Of Glycosylation, Type Iid
Decreased muscle mass, Dandy-Walker malformation, Hydrocephalus, Myopathy OMIM:607091
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy OMIM:300376
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Muscular dystrophy, Skeletal muscle atrophy, Triangular tongue, Calf muscle hypertr... OMIM:616827
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in childhood, Type II lissencephaly, Polymicrogyria, Partial agenesis of the... OMIM:614643
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Microlissencephaly
Polymicrogyria, Simplified gyral pattern, Ventriculomegaly, Subcortical heterotopia, Pachygyria, ... ORPHA:1083
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Lissencephaly, X-Linked, 1
Death in infancy, Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Agenesis of corpus ... OMIM:300067
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Skeletal muscle atrophy, Proximal amyotrophy, Increased variability in muscle... OMIM:614302
Muscular Dystrophy, Congenital, Lmna-Related
Hamstring contractures, Elbow contracture, Achilles tendon contracture, Upper limb muscle weaknes... OMIM:613205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Muscular dystrophy, Congenital muscular dystrophy OMIM:613151
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Minicore myopathy, Myopathy, Abnormal muscle fiber morph... ORPHA:598
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Triceps weakness, Muscu... ORPHA:86812
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Generalized amyotrophy, Elbow flexion contracture, Joint contracture OMIM:616516
Lethal Congenital Contracture Syndrome 4
Flexion contracture, Multiple joint contractures, Skeletal muscle atrophy, Distal arthrogryposis OMIM:614915
Gne Myopathy
Lower limb amyotrophy, Shoulder girdle muscle weakness, Hip flexor weakness, Lower limb muscle we... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Type 1 muscle fiber predominance, Muscular dystrophy, Skeletal muscle atr... OMIM:253700
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral pattern, Death in infanc... OMIM:619302
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Band Heterotopia
Polymicrogyria, Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Gray matter hetero... OMIM:600348
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Distal amyotrophy, Abnormal lower motor neuron morphology, Scapuloperone... OMIM:611067
Muscular Dystrophy, Cardiac Type
Muscular dystrophy OMIM:309930
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan OMIM:615352
Dystonia 31
Leg dystonia, Generalized dystonia, Writer's cramp, Abnormal posturing, Arm dystonia, Craniofacia... OMIM:619565
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Increased endomysial connective tissue, Increase... OMIM:613157
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Hydrocephalus, Agenesis of corpus callosu... ORPHA:899
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Hydrocephalus, Muscular dystrophy, Lissencephaly, Agyria, Flexion contract... OMIM:615249
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Spinal Muscular Atrophy, Jokela Type
Tremor, Skeletal muscle atrophy, Spinal muscular atrophy, Calf muscle hypertrophy OMIM:615048
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Proximal amyotrophy, Spinal muscular atrophy, Distal amyotrophy OMIM:182980
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Hand tremor, Distal lower limb muscle weakness, Hand muscle weaknes... ORPHA:99947
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle weakness, Shoulder girdle muscle atrophy, Skeletal muscle atrophy, Scapula... OMIM:158900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Peroneal muscle weakness, Skeletal muscle hypertrophy, Hypoglycosylation of a... OMIM:611588
Digital Extensor Muscle Aplasia-Polyneuropathy
Muscular dystrophy, Camptodactyly of finger, Skeletal muscle atrophy, Aplasia/Hypoplasia involvin... ORPHA:2926
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Muscular... OMIM:617072
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Distal lower limb muscle weakness OMIM:615025
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Skeletal muscle atrophy, Ventriculomegaly OMIM:613402
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Flexion contracture, Congenital muscular dystrophy, Increased endomysial connective tissue, Abnor... OMIM:607855
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Z-band str... OMIM:617158
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Flexion contracture, Skeletal muscle atrophy OMIM:611105
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Type II lissencephaly, Reduced muscle fiber alpha dystroglycan, Polymicrogyria, Hyd... ORPHA:370959
Creatine Phosphokinase, Elevated Serum
Myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Inf... OMIM:123320
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Left ventricular hypertrophy, Muscular dystrophy, Skeletal muscle hypertrophy, Vent... OMIM:613156
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Abnormal upper motor neuron morphology ORPHA:247604
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hypoplasia of the pyramidal tract, Type II lissencephaly, Polymicrogyria, Hydrocep... OMIM:253800
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Elbow flexion contracture, Simplified gyral pattern, Hydrocephalus OMIM:619470
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Increased endomysial connective tissue, Centrally nucleated skeletal muscle f... OMIM:617066
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Death in infancy OMIM:613869
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Subcortical heter... ORPHA:101029
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Irritability, Aggressive behavior, Impulsivity OMIM:605899
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vac... ORPHA:611
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Encephalocele, Type II lissencephaly, Hydrocephalus, Muscular dystrophy, Skeletal m... OMIM:613150
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Ataxia-Oculomotor Apraxia Type 4
Muscular dystrophy, Progressive distal muscular atrophy, Dystonia, Distal lower limb muscle weakness ORPHA:459033
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis anterior muscle atrophy, Shoulder girdle muscle weakness, Facial diplegia, Sternocleidom... ORPHA:98905
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Myopathy, Myofibrillar, 6
Lower limb muscle weakness, Muscular dystrophy, Knee flexion contracture, Myofibrillar myopathy, ... OMIM:612954
Pandas
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Attentio... ORPHA:66624
Acalvaria
Spina bifida, Holoprosencephaly, Abnormality of neuronal migration, Hydrocephalus ORPHA:945
Congenital Myopathy 1B, Autosomal Recessive
Minicore myopathy, Muscular dystrophy, Skeletal muscle atrophy, Nemaline bodies, Facial palsy, Ce... OMIM:255320
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Gray matter heterotopia, Dysgyria ORPHA:352682
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal lower limb amyotrophy, Thenar muscle weakness, Myopat... OMIM:614065
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Decreased c... OMIM:618261
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Spinal muscular atrophy, Skeletal muscle atrophy, Tremor, Fa... OMIM:159950
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Bethlem Myopathy 1
Camptodactyly of finger, Torticollis, Myopathy, Skeletal muscle atrophy, Congenital muscular tort... OMIM:158810
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus, Myelomeningocele, Gray matter he... OMIM:207950
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity, Agitation OMIM:309548
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Fraxe Intellectual Disability
Aggressive behavior, Hyperactivity, Impulsivity, Agitation ORPHA:100973
Bethlem Myopathy
Limb-girdle muscle weakness, Camptodactyly of finger, Reduced muscle collagen VI, Muscular dystro... ORPHA:610
Congenital Myopathy 3 With Rigid Spine
Minicore myopathy, Type 1 muscle fiber predominance, Muscular dystrophy, Facial palsy, Increased ... OMIM:602771
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscular dystrophy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Mothe... OMIM:226670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Hydrocephalus, Muscular dystrophy, Lateral ventricle dilatation, Ventricul... OMIM:613154
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Type 1 muscle fiber predominance, Necrotizing myopathy, Skeletal muscle a... ORPHA:178464
Edinburgh Malformation Syndrome
Death in infancy, Hydrocephalus OMIM:129850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Polymicrogyria, Hydrocephalus, Muscular dystrophy, Ventriculomegaly, Increased variability in mus... OMIM:616538
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Weakness of facial ... OMIM:617030
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Melanosis, Neurocutaneous
Syringomyelia, Hydrocephalus, Death in infancy, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy OMIM:612539
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Arthrogryposis multiplex congenita, Macrogyria, Spina... ORPHA:2671
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Spastic Paraplegia 31, Autosomal Dominant
Distal amyotrophy, Lower limb muscle weakness, Skeletal muscle atrophy OMIM:610250
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Knee flexion contracture ORPHA:401785
Hemimegalencephaly
Polymicrogyria, Abnormal neuron morphology, Gray matter heterotopia, Ventriculomegaly, Gliosis, P... ORPHA:99802
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Facial diplegia, Paucity of anterior horn motor neurons, ... OMIM:611890
Kerion Celsi
Lymphadenopathy ORPHA:499
Caspase 8 Deficiency
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:607271
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy ORPHA:357043
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:66661
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal amyotrophy, Intrinsic hand muscle atrophy, Distal lower li... OMIM:620068
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy OMIM:616282
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Fried Syndrome
Skeletal muscle atrophy, Hydrocephalus ORPHA:85335
Neuronopathy, Distal Hereditary Motor, Type Viii
Distal lower limb amyotrophy, Nonprogressive muscular atrophy, Spinal muscular atrophy, Distal lo... OMIM:600175
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Ullrich Congenital Muscular Dystrophy 2
Flexion contracture, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:616470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan OMIM:615350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Muscle f... OMIM:616812
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased circulating IgG2 level, Increased circulating IgM level, Lymphadenopathy, Splenomegaly,... OMIM:615513
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Type 1 muscle fiber predomin... OMIM:613954
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Autophagic vacuoles, Distal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Rimme... OMIM:618655
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy ORPHA:1875
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy ORPHA:401805
Mitochondrial Complex I Deficiency, Nuclear Type 23
Increased CSF lactate, Skeletal muscle atrophy, Dystonia OMIM:618244
Spastic Paraplegia 18, Autosomal Recessive
Lower limb muscle weakness, Skeletal muscle atrophy, Joint contracture OMIM:611225
Epilepsy, Progressive Myoclonic, 9
Generalized amyotrophy, Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly OMIM:616540
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Neonatal death, Hypoplasia of th... OMIM:253310
Amyotrophic Lateral Sclerosis 8
Proximal amyotrophy, Morphological abnormality of the pyramidal tract, Distal amyotrophy, Postura... OMIM:608627
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Skeletal muscle atrophy, Degeneration of anteri... OMIM:105400
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Cervical lymphadenopathy OMIM:618987
Lipodystrophy, Familial Partial, Type 6
Lower limb muscle weakness, Muscular dystrophy, Skeletal muscle atrophy, Myopathy OMIM:615980
Microhydranencephaly
Hydranencephaly, Skeletal muscle atrophy, Athetosis, Ventriculomegaly, Generalized amyotrophy, Pa... OMIM:605013
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy OMIM:615681
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Joint contracture, Generalized limb ... OMIM:615351
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy, Amyotrophic lateral sclerosis OMIM:608030
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616437
Nemaline Myopathy 6
Limb muscle weakness, Skeletal muscle atrophy, Nemaline bodies, Myopathy OMIM:609273
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:614808
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:617892
Congenital Hydrocephalus
Colpocephaly, Abnormal cortical gyration, Hydrocephalus, Ventriculomegaly, Lissencephaly ORPHA:2185
Phenylketonuria
Self-mutilation, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Irritability, ... OMIM:261600
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy, Myopathy OMIM:208100
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy OMIM:615686
Lissencephaly 5
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Gray matter heterotopia, Subcortic... OMIM:615191
Dysequilibrium Syndrome
Skeletal muscle atrophy ORPHA:1766
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Decreased circulating antibody level, Absent specific antibody response, ... OMIM:619846
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Distal lower limb muscle weakness, Flexion contracture of finger, Increased endomysial connective... ORPHA:206549
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Simplified gyral pattern, Gray matter heterotopia, Pachygyria, Lissencephaly, Abn... OMIM:604317
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Type 1 muscle fiber predominance, Skeletal muscle atrophy, Dystonia, Dysplastic corpus callosum OMIM:618276
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Increased endomysial connective tissue, Muscular dystrophy, Myopathy OMIM:602541
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Ventriculomegaly ORPHA:1980
Spastic Paraplegia 2, X-Linked
Lower limb muscle weakness, Skeletal muscle atrophy, Spinocerebellar tract degeneration, Degenera... OMIM:312920
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:303350
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Lower limb muscle weakness, Foot dorsiflexor weakness, Skeletal mus... OMIM:613287
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb amyotrophy, Spinal cord lesion, Hand muscle weakness, Degeneration of the lateral cort... ORPHA:320355
Obsolete: Early-Onset Schizophrenia
Polyphagia, Emotional lability, Impairment in personality functioning, Suicidal ideation, Restles... ORPHA:96369
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Alexander Disease
Death in childhood, Death in adolescence, Increased CSF protein concentration, Hydrocephalus, Dea... OMIM:203450
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Dystonia, Intrinsic hand muscle atrophy OMIM:304700
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Spinal muscular atrophy, Weakness of facial musculature, ... ORPHA:1145
Hyperprolinemia, Type I
Aggressive behavior, Hyperactivity OMIM:239500
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb amyotrophy, Spinal cord lesion, Lower limb muscle weakness, Degeneration of the latera... ORPHA:171863
Congenital Disorder Of Glycosylation, Type Ie
Camptodactyly, Muscular dystrophy, Knee flexion contracture, Tremor, Ankle flexion contracture OMIM:608799
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Nemaline Myopathy 10
Skeletal muscle atrophy, Death in infancy, Nemaline bodies, Fatty replacement of skeletal muscle,... OMIM:616165
1Q21.1 Microduplication Syndrome
Arthrogryposis multiplex congenita, Hydrocephalus ORPHA:250994
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle weakness, Myopathy, Distal amyotrophy, Pelvic girdle amyotrophy, Shoulder ... OMIM:167320
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Spastic Paraplegia 45, Autosomal Recessive
Flexion contracture, Skeletal muscle atrophy, Dysplastic corpus callosum OMIM:613162
Developmental And Epileptic Encephalopathy 36
Flexion contracture, Hydrocephalus OMIM:300884
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Impaired T cell function, Follicular hyperplasia, Decreased circ... OMIM:240500
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Hydrocephalus, Communicating hydrocephalus, Muscular dystrophy, Hydromyeli... OMIM:615287
Amyotrophic Lateral Sclerosis 2, Juvenile
Distal lower limb amyotrophy, Retrocollis, Distal amyotrophy, Skeletal muscle atrophy, Generalize... OMIM:205100
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Hepatosplenomegaly, Cervical lymphadenopathy, Increased circulat... OMIM:618534
Nemaline Myopathy 2
Arthrogryposis multiplex congenita, Sternocleidomastoid amyotrophy, Muscle fiber splitting, Type ... OMIM:256030
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Dominant 67
Bipolar affective disorder, Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Hydrocephalus OMIM:258320
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level, Hepatosplenomegaly, Lymphadenop... OMIM:618982
Hemangioblastoma
Lower limb muscle weakness, Upper limb muscle weakness, Spinal hemangioblastoma, Hydrocephalus ORPHA:252054
Oculopharyngodistal Myopathy 3
Increased CSF protein concentration, Distal amyotrophy, Weakness of facial musculature, Tremor, I... OMIM:619473
Lissencephaly 8
Type II lissencephaly, Polymicrogyria, Skeletal muscle atrophy, Occipital encephalocele, Ventricu... OMIM:617255
Pontocerebellar Hypoplasia, Type 1A
Spinal muscular atrophy, Hand tremor, Distal amyotrophy, Lateral ventricle dilatation, Congenital... OMIM:607596
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Subependymal Nodular Heterotopia
Polymicrogyria, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, Occipital... ORPHA:101030
Pontocerebellar Hypoplasia, Type 1C
Death in childhood, Skeletal muscle atrophy, Spinal muscular atrophy, Joint contracture OMIM:616081
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating... OMIM:619220
Combined Oxidative Phosphorylation Deficiency 6
Increased CSF lactate, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Craniotelencephalic Dysplasia
Frontal encephalocele, Hydrocephalus, Lissencephaly, Arrhinencephaly, Agenesis of corpus callosum ORPHA:1528
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Gliosis, Amyotrophic lateral scl... OMIM:105550
Gemignani Syndrome
Skeletal muscle atrophy ORPHA:2074
Lennox-Gastaut Syndrome
Aggressive behavior, Personality disorder, Hyperactivity ORPHA:2382
Autosomal Recessive Spastic Paraplegia Type 76
Lower limb muscle weakness, Skeletal muscle atrophy ORPHA:488594
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Spinal Muscular Atrophy, X-Linked 2
Spinal muscular atrophy, Myopathy, Facial palsy, Flexion contracture, Arthrogryposis multiplex co... OMIM:301830
Lissencephaly 6 With Microcephaly
Polymicrogyria, Partial agenesis of the corpus callosum, Limb hypertonia, Microlissencephaly, Sim... OMIM:616212
Amyotrophic Lateral Sclerosis 5, Juvenile
Distal amyotrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Hyperactivity, Nail-biting, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Scapuloperoneal Myopathy, X-Linked Dominant
Lower limb muscle weakness, Forearm supination contracture, Skeletal muscle atrophy, Knee flexion... OMIM:300695
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612069
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Weakness of facial musculature, Muscle fiber atrophy, Right ventricu... ORPHA:324604
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Hyperactivity, Anxiety, Aggressive behavior, Impulsivity ORPHA:101039
Kleeblattschaedel
Hydrocephalus OMIM:148800
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Gliosis, Proximal amyotrophy, Hand tremor OMIM:604484
Marinesco-Sjögren Syndrome
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... ORPHA:559
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Limb-girdle muscular dystrophy, Muscle fiber atrophy, Myopathy ORPHA:369840
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypertrophy, EMG: myopathic abno... OMIM:300696
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Scapular winging, Ventriculomegaly,... ORPHA:206559
Aicardi-Goutieres Syndrome 4
Death in childhood, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis, Dystonia OMIM:610333
Immunodeficiency 32A
Lymphadenopathy, Lymphadenitis OMIM:614893
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Dandy-Walker malformation OMIM:617967
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Type 1 muscle fiber predominance, Facial palsy, Congenit... OMIM:254090
Congenital Myopathy 23
Facial diplegia, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Nemaline bodies, Scap... OMIM:609285
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Bipolar affective disorder, Abnormal aggre... ORPHA:3077
Obsolete: Arnold-Chiari Malformation Type Ii
Syringomyelia, Polymicrogyria, Partial agenesis of the corpus callosum, Myelomeningocele, Hydroce... ORPHA:1136
Myosclerosis, Autosomal Recessive
Achilles tendon contracture, Facial palsy, Skeletal muscle atrophy, Neck joint contracture OMIM:255600
Holoprosencephaly 5
Hydrocephalus, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly, Ho... OMIM:609637
Chromosome 3Q29 Deletion Syndrome
Anxiety, Aggressive behavior, Hyperactivity OMIM:609425
Distal 7Q11.23 Microduplication Syndrome
Frontal encephalocele, Hydrocephalus, Congenital diaphragmatic hernia ORPHA:261102
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD69 upregulation upon TCR activ... OMIM:300853
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Neurocutaneous Melanocytosis
Syringomyelia, Meningocele, Death in infancy, Ventriculomegaly, Dandy-Walker malformation, Abnorm... ORPHA:2481
Landau-Kleffner Syndrome
Emotional lability, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Depression,... ORPHA:98818
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Hyperactivity OMIM:301013
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Lateral ventricle dilatation, Gray matter heterotopia, Pachygyria, Lissencephaly,... ORPHA:300573
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Polymicrogyria, Hydranencephaly, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Hy... OMIM:225790
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Anxiety, Self-injurious behavior, Depression, Aggressive behavior OMIM:619467
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased CSF lactate, Increased variability in muscle fiber diameter ORPHA:238329
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Increased CSF lactate, Skeletal muscle atrophy, Lower-limb joint contracture OMIM:613710
Fetal Akinesia Deformation Sequence 4
Camptodactyly, Skeletal muscle atrophy, Neonatal death, Prenatal death, Arthrogryposis multiplex ... OMIM:618393
Rosaï-Dorfman Disease
Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle weakness, Myopathy, Shoulder girdle muscle atrophy, Type 1 muscle fiber pr... OMIM:608358
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Hamstring contractures, Knee flexion contracture, Achilles tendon contracture... OMIM:310200
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Blepharospasm, Generalized dystonia, Writer's cramp, Tremor, Facial palsy, Oromandib... OMIM:128100
Immunodeficiency 105
Hepatosplenomegaly, Decreased circulating total IgM, Decreased circulating IgA level, Decreased c... OMIM:619924
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Myopathy, Type 1 muscle fiber predominance, Knee flexion contracture, Ske... OMIM:616313
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Mitochondrial Complex I Deficiency, Nuclear Type 31
Death in childhood, Skeletal muscle atrophy, Ventriculomegaly OMIM:618251
Atrial Standstill
Left ventricular noncompaction, Flexion contracture, Skeletal muscle atrophy, Muscular dystrophy ORPHA:1344
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Atrophy of the spinal cord, Abnormal lower motor neuron morphology, Amyotrophi... OMIM:602433
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Weakness of facial musculature, Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging OMIM:617069
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Lymphadenopathy, Splenomegaly OMIM:618852
Neural Tube Defects, Susceptibility To
Myelomeningocele, Anencephaly, Spina bifida occulta, Hydrocephalus OMIM:182940
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus, Congenital diaphragmatic hernia ORPHA:380
Boucher-Neuhauser Syndrome
Distal amyotrophy, Intention tremor, Abnormal upper motor neuron morphology OMIM:215470
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Increased endo... OMIM:617760
Juvenile Amyotrophic Lateral Sclerosis
Retrocollis, Axial dystonia, Distal amyotrophy, Muscle fiber atrophy, Skeletal muscle atrophy, He... ORPHA:300605
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Hydrocephalus ORPHA:83473
Immunodeficiency 104
Lymphadenopathy, Splenomegaly OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Abnormal natural killer cell physiology, Lymphadenopathy, Decreased circulati... OMIM:613101
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Mu-Heavy Chain Disease
Lymphadenopathy, Splenomegaly, Increased circulating antibody level ORPHA:100024
Roussy-Lévy Syndrome
Intrinsic hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Postural tremor, Sk... ORPHA:3115
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy OMIM:615683
Spinocerebellar Ataxia 18
Tremor, Skeletal muscle atrophy, Limb muscle weakness OMIM:607458
Myopathy, Scapulohumeroperoneal
Wrist drop, Skeletal muscle atrophy, Nemaline bodies, Scapular winging, Achilles tendon contractu... OMIM:616852
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Absence of lymph node germinal center OMIM:608184
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Absent muscle fiber merosin, Astrocytosis, Muscular dystrophy, Muscle fiber atrophy... ORPHA:258
Myopathy, Centronuclear, 1
Proximal amyotrophy, Distal lower limb muscle weakness, Type 1 muscle fiber predominance, Skeleta... OMIM:160150
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Polymicrogyria, Hydrocephalus, Knee flexion contracture, Skeletal muscle atrophy, Ventriculomegal... OMIM:603387
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pachygyria, Hydrocephalus OMIM:618174
Dpm1-Cdg
Muscular dystrophy, Camptodactyly, Knee flexion contracture, Ventriculomegaly ORPHA:79322
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity ORPHA:382
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Shoulder girdle muscle weakness, Achilles tendon contracture, Thigh hypertrophy, Co... OMIM:607155
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Type 1 muscle fiber predominance, Central core regions in muscle fibers, Weakness of facial muscu... OMIM:117000
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:614120
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Agenesis of corpus callosum, Pachygyria, Ventriculomegaly ORPHA:2512
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Leber Optic Atrophy And Dystonia
Increased CSF lactate, Skeletal muscle atrophy, Dystonia, Athetosis OMIM:500001
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Tremor, Oculogyric crisis, Dystonia, Skeletal muscle atrophy ORPHA:330050
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:271980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Type II lissencephaly, Polymicrogyria, Hydrocephalus, Occipital encephalocele, Meningoencephaloce... OMIM:236670
Neuropathy, Congenital Hypomyelinating, 2
Distal amyotrophy, Skeletal muscle atrophy, Facial diplegia OMIM:618184
L1 Syndrome
Aqueductal stenosis, Skeletal muscle atrophy, Hydrocephalus ORPHA:275543
Glutathionuria
Tremor, Agenesis of corpus callosum, Action tremor, Gray matter heterotopia OMIM:231950
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Skeletal muscle atrophy ORPHA:3294
Immunodeficiency, Common Variable, 1