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Gene: B4gat1 MGI:1919680

Gene Summary

Name:

beta-1,4-glucuronyltransferase 1

Synonyms:

1500032M01Rik, B3gnt1, iGNT, B3gnt6, BETA3GNT1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
embryonic lethality prior to tooth bud stage	B4gat1^{tm1.1(KOMP)Vlcg}	HOM	E12.5	0.00
hyperactivity	B4gat1^{tm1.1(KOMP)Vlcg}	HET	Early adult	3.93×10^-06
embryonic lethality prior to organogenesis	B4gat1^{tm1.1(KOMP)Vlcg}	HOM	E9.5	0.00
decreased thigmotaxis	B4gat1^{tm1.1(KOMP)Vlcg}	HET	Early adult	6.65×10^-05
preweaning lethality, complete penetrance	B4gat1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00

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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

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Embryo LacZ

LacZ images wholemount

24 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

View 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.

Human diseases associated with B4gat1 (2 diseases)
Human diseases predicted to be associated with B4gat1 (1210 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Walker-Warburg Syndrome		Abnormality of neuronal migration, Abnormal cortical gyration, Ventriculomegaly, Muscular dystrop...	ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13		Gray matter heterotopia, Ventriculomegaly, Hydromyelia, Muscular dystrophy, Anencephaly, Hydrocep...	OMIM:615287

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

Disease	Matching phenotypes	Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder, Depression	OMIM:613003
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	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
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Autism, Susceptibility To, X-Linked 4	Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder	OMIM:300830
Panic Disorder 1	Anxiety	OMIM:167870
Severe Primary Trimethylaminuria	Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity	ORPHA:468726
Amyotrophic Lateral Sclerosis 20	Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis	OMIM:615426
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center, Decreased circulating IgG level	OMIM:235550
Familial Alzheimer-Like Prion Disease	Depression, Attention deficit hyperactivity disorder, Emotional lability, Anxiety	ORPHA:280397
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr...	OMIM:601954
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 2	Attention deficit hyperactivity disorder, Self-injurious behavior	OMIM:607417
Facioscapulohumeral Muscular Dystrophy 2, Digenic	Pelvic girdle muscle weakness, Scapulohumeral muscular dystrophy, Foot dorsiflexor weakness, Scap...	OMIM:158901
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Limb-girdle muscle weakness, Muscular dystrophy, Calf muscle pseudohypertrophy, Shoulder girdle m...	OMIM:604286
Miyoshi Myopathy	Tibialis muscle weakness, Distal lower limb amyotrophy, Calf muscle hypertrophy, Triceps weakness...	ORPHA:45448
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Muscular dystrophy, Type II lissencephaly, Hydrocephalus, Ventriculomegaly	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, Calf muscle hypertrophy, Muscular dystrophy, Distal lower limb muscle ...	OMIM:613319
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weak...	OMIM:611307
Craniofacial Conodysplasia	Spinal cord compression, Hydrocephalus	ORPHA:85168
Neuronopathy, Distal Hereditary Motor, Type Viib	Lower limb muscle weakness, Hand muscle atrophy, Abnormal lower motor neuron morphology, Weakness...	OMIM:607641
Obsessive-Compulsive Disorder	Skin-picking, Depression, Anxiety	OMIM:164230
Tibial Muscular Dystrophy, Tardive	Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities	OMIM:600334
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Muscle eosinophilia, Myositi...	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	Ventriculomegaly, Simplified gyral pattern, Muscular dystrophy, Agyria, Hydrocephalus, Left ventr...	OMIM:613153
Muscular Dystrophy, Progressive Pectorodorsal	Muscular dystrophy, Scapular winging, Shoulder girdle muscle weakness	OMIM:310095
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Fatty replacement of skeletal muscle, Ventriculomegaly, Congenital muscu...	ORPHA:370980
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Muscular dystrophy, Central core regions in muscle fibers	OMIM:159050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu...	OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir...	OMIM:608423
Smith-Magenis syndrome	Hyperactivity, Self-mutilation	DECIPHER:8
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Wrist flexion contracture, Congenital finger flexion contractures, Flexion contracture, Lower lim...	ORPHA:267
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy...	OMIM:608807
Spinal Muscular Atrophy, Type Iii	Spinal muscular atrophy, Lower limb muscle weakness, Degeneration of anterior horn cells, Proxima...	OMIM:253400
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Scapulohumeral muscular dystrophy	OMIM:160570
Miyoshi Muscular Dystrophy 1	Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Lower limb muscle weakness, M...	OMIM:254130
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy	Upper limb amyotrophy, Quadriceps muscle atrophy, Distal lower limb amyotrophy, Triceps weakness,...	ORPHA:482601
Chudley-Mccullough Syndrome	Gray matter heterotopia, Ventriculomegaly, Hydrocephalus, Partial agenesis of the corpus callosum...	OMIM:604213
Vacuolar Neuromyopathy	Muscle fiber splitting, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder ...	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 IgE, Decreased circulating IgA leve...	OMIM:606843
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety	OMIM:619031
Spinal Muscular Atrophy, Segmental	Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology, Hand muscle atrophy	OMIM:183020
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12	Muscular dystrophy, Limb-girdle muscle weakness	OMIM:616094
Neuronopathy, Distal Hereditary Motor, Type Va	Upper limb amyotrophy, Thenar muscle weakness, Thenar muscle atrophy, First dorsal interossei mus...	OMIM:600794
Muscular Dystrophy, Congenital, With Rapid Progression	Congenital muscular dystrophy	OMIM:254100
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Peroneal muscle atrophy, Limb-girdle muscle weakness, Distal lower limb amyotrophy, Muscular dyst...	OMIM:181350
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f...	ORPHA:34515
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ...	OMIM:253601
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ...	OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Elb...	OMIM:619566
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Joint contracture of the hand, Calf muscle hypertrophy, Muscul...	OMIM:608840
Dystonia 11, Myoclonic	Anxiety, Depression, Panic attack, Agoraphobia, Alcoholism	OMIM:159900
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Muscular Dystrophy, Congenital, 1B	Congenital muscular dystrophy, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto...	OMIM:604801
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly, Polymicrogyria	OMIM:615938
Charcot-Marie-Tooth Disease, Axonal, Type 2D	Upper limb amyotrophy, Thenar muscle weakness, Thenar muscle atrophy, First dorsal interossei mus...	OMIM:601472
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Muscular dystrophy, Proximal amyotrophy, Scapular winging, Calf muscle hypertrophy	OMIM:601287
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity	OMIM:300271
Spinal Muscular Atrophy, Type Ii	Hand tremor, Skeletal muscle atrophy, Spinal muscular atrophy, Degeneration of anterior horn cells	OMIM:253550
Lethal Congenital Contracture Syndrome 3	Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co...	OMIM:611369
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Congenital muscular dystrophy, Hydrocephalus, Type II lissencephaly, Occipital ...	ORPHA:324416
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Lymphadenopathy, Decreased circulating IgA level, Increas...	OMIM:608106
Myopathy, Myofibrillar, 2	Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop...	OMIM:608810
Lissencephaly 1	Gray matter heterotopia, Ventriculomegaly, Agyria, Lissencephaly, Subcortical band heterotopia, P...	OMIM:607432
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,...	OMIM:603511
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Aggressive behavior	OMIM:615493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Congenital muscular dystrophy, ...	OMIM:613155
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f...	OMIM:613818
Myopathy, Distal, 3	Joint contracture of the hand, Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotroph...	OMIM:610099
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Aggressive behavior	ORPHA:356996
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu...	OMIM:612999
Muscular Dystrophy, Limb-Girdle, Type 1H	Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, C...	OMIM:613530
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Flexion contracture, Ventriculomegaly, Muscular dystrophy, Hydrocephalus...	ORPHA:272
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly, Polymicrogyria	OMIM:615937
Immunodeficiency With Hyper-Igm, Type 2	Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c...	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
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly	OMIM:618709
Kimura Disease	Lymphadenopathy, Follicular hyperplasia, Increased circulating IgE level	ORPHA:482
Spinal Muscular Atrophy, Type Iv	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina...	OMIM:271150
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture	OMIM:609308
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy	OMIM:613723
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Muscular dystrophy, Skeletal muscle hypertrophy	OMIM:613158
Reticuloendotheliosis, X-Linked	Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4	Muscular dystrophy	OMIM:613152
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Congenital muscular dystrophy, Myopathy, Facial palsy	OMIM:602541
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Enlarged sylvian cistern, Ventriculomegaly, Agyria, Pachygyria	ORPHA:1084
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Ventriculomegaly, Calf muscle hypertrophy, Congenital muscular dystrophy, Achilles tendon contrac...	OMIM:606612
Dpm3-Cdg	Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Calf muscle hypertrophy	ORPHA:263494
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Muscular dystrophy, Scapular winging, Achilles tendon contracture, Calf muscle pseudohypertrophy	ORPHA:62
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Hydrocephalus, Dandy-Walker malformation, Decreased muscle mass	OMIM:607091
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria	OMIM:615411
Lissencephaly 3	Gray matter heterotopia, Ventriculomegaly, Agyria, Lissencephaly, Pachygyria, Periventricular lam...	OMIM:611603
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Muscular dystrophy, Type II lissencephaly, Hydrocephalus, Polymicrogyria	OMIM:615181
Muscular Dystrophy, Becker Type	Muscular dystrophy, Calf muscle pseudohypertrophy	OMIM:300376
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Macroglossia, Skeletal muscle atr...	OMIM:616827
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Muscular Dystrophy, Barnes Type	Muscular dystrophy, Myopathy	OMIM:158800
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Ventriculomegaly, Death in infan...	OMIM:614643
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ...	OMIM:300067
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Muscular dystrophy, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Prox...	OMIM:614302
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Ventriculomegaly, Simplified gyral pattern,...	ORPHA:1083
Muscular Dystrophy, Congenital, Lmna-Related	Hip contracture, Generalized amyotrophy, Congenital muscular dystrophy, Achilles tendon contractu...	OMIM:613205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Muscular dystrophy, Congenital muscular dystrophy	OMIM:613151
Multiminicore Myopathy	Abnormal muscle fiber morphology, Congenital muscular dystrophy, Myopathy, Minicore myopathy, Pro...	ORPHA:598
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Muscular dystrophy, Elbow flexion contracture, Joint contracture, Generalized amyotrophy	OMIM:616516
Lethal Congenital Contracture Syndrome 4	Distal arthrogryposis, Flexion contracture, Skeletal muscle atrophy, Multiple joint contractures	OMIM:614915
Gne Myopathy	Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger...	ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc...	OMIM:253700
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Emotional lability	OMIM:617028
Pontocerebellar Hypoplasia, Type 15	Death in infancy, Simplified gyral pattern, Hydrocephalus, Partial agenesis of the corpus callosu...	OMIM:619302
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ...	ORPHA:86812
Band Heterotopia	Gray matter heterotopia, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Subcortic...	OMIM:600348
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability	OMIM:234500
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Muscular dystrophy	OMIM:204730
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4	Spinal muscular atrophy, Joint contracture of the hand, Abnormal lower motor neuron morphology, S...	OMIM:611067
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Muscular Dystrophy, Cardiac Type	Muscular dystrophy	OMIM:309930
Dystonia 31	Abnormal posturing, Writer's cramp, Leg dystonia, Craniofacial dystonia, Arm dystonia, Generalize...	OMIM:619565
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan	OMIM:615352
Walker-Warburg Syndrome	Abnormality of neuronal migration, Abnormal cortical gyration, Ventriculomegaly, Muscular dystrop...	ORPHA:899
Spinal Muscular Atrophy, Facioscapulohumeral Type	Skeletal muscle atrophy, Spinal muscular atrophy	OMIM:182970
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Skel...	OMIM:613157
Spinal Muscular Atrophy, Jokela Type	Tremor, Skeletal muscle atrophy, Spinal muscular atrophy, Calf muscle hypertrophy	OMIM:615048
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Flexion contracture, Muscular dystrophy, Agyria, Hydrocephalus, Lissencephaly, Type II lissenceph...	OMIM:615249
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Proximal amyotrophy, Distal amyotrophy, Tremor, Spinal muscular atrophy	OMIM:182980
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Muscular dystrophy, Flexion contracture, Skeletal muscle hypertrophy	OMIM:611588
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Flexion contracture, Distal lower limb amyotrophy, Postural tremor, Triceps weakness, Abnormal sp...	ORPHA:99947
Facioscapulohumeral Muscular Dystrophy 1	Calf muscle hypertrophy, Scapulohumeral muscular dystrophy, Shoulder girdle muscle atrophy, Skele...	OMIM:158900
Developmental And Epileptic Encephalopathy 104	Hyperactivity, Self-injurious behavior, Agitation	OMIM:619970
Digital Extensor Muscle Aplasia-Polyneuropathy	Camptodactyly of finger, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle a...	ORPHA:2926
Charcot-Marie-Tooth Disease, Axonal, Type 2Q	Skeletal muscle atrophy, Distal lower limb muscle weakness	OMIM:615025
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop...	OMIM:617072
Microcephaly, Seizures, And Developmental Delay	Simplified gyral pattern, Skeletal muscle atrophy, Ventriculomegaly	OMIM:613402
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Simplified gyral pattern, Elbow flexion contracture, Hydrocephalus, Tremor	OMIM:619470
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Congenital muscular dystrophy, Flexion contracture, Abnor...	OMIM:607855
Myopathy, Distal, With Rimmed Vacuoles	Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m...	OMIM:617158
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Flexion contracture, Skeletal muscle atrophy	OMIM:611105
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Skeletal muscle atrophy	ORPHA:247604
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Flexion contracture, Ventriculomegaly, Muscular dystrophy, Congenital muscular dystrophy, Left ve...	OMIM:613156
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Gray matter heterotopia, Ventriculomegaly, Congenital muscular dystroph...	ORPHA:370959
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Inflammatory ...	OMIM:123320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Flexion contracture, Encephalocele, Calf muscle hypertrophy, Agyria...	OMIM:253800
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Muscular dystrophy, Death in infancy	OMIM:613869
Sub-Cortical Nodular Heterotopia	Subcortical heterotopia, Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicr...	ORPHA:101029
Glycine Encephalopathy	Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness	OMIM:605899
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Inclusion Body Myositis	Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammatory myopathy, Skeletal muscl...	ORPHA:611
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Increased variability in muscle fiber diameter, Encephalocele, Ventriculomegaly, Death in infancy...	OMIM:613150
Congenital Multicore Myopathy With External Ophthalmoplegia	Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor...	ORPHA:98905
Acalvaria	Spina bifida, Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration	ORPHA:945
Myopathy, Myofibrillar, 6	Knee flexion contracture, Myofibrillar myopathy, Generalized amyotrophy, Lower limb muscle weakne...	OMIM:612954
Pandas	Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Impulsivity, A...	ORPHA:66624
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Dysgyria, Occipital encephalocele	ORPHA:352682
Myopathy, Distal, 4	Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Distal...	OMIM:614065
Congenital Myopathy 1B, Autosomal Recessive	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu...	OMIM:255320
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:205250
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Lymphadenopathy, Hepatosplenome...	OMIM:618261
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Progressive distal muscular atrophy, Spinal muscular atrophy, Degeneration of anterior horn cells...	OMIM:159950
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Follicular hyperplasia, Hepatosplenomegaly	OMIM:619126
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Bethlem Myopathy 1	Camptodactyly of finger, Limb-girdle muscle weakness, Torticollis, Elbow flexion contracture, Myo...	OMIM:158810
Amyotrophic Lateral Sclerosis 11	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:612577
Intellectual Developmental Disorder, X-Linked 109	Impulsivity, Hyperactivity, Aggressive behavior, Agitation	OMIM:309548
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan	OMIM:615350
Chiari Malformation Type Ii	Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical m...	OMIM:207950
Muscular Atrophy, Malignant Neurogenic	Skeletal muscle atrophy	OMIM:158650
Amyotonia Congenita	Skeletal muscle atrophy	OMIM:205000
Bethlem Myopathy	Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract...	ORPHA:610
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Muscular dystrophy, Centrally nucleated skeletal muscle fibers	OMIM:617066
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dilated third ventricle, Flexion contracture, Ventriculomegaly, Lateral ventricle dilatation, Mus...	OMIM:613154
Hereditary Myopathy With Early Respiratory Failure	Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,...	ORPHA:178464
Myopathy, Distal, 5	Muscle fiber splitting, Weakness of facial musculature, Myopathy, Distal lower limb muscle weakne...	OMIM:617030
Congenital Myopathy 3 With Rigid Spine	Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal...	OMIM:602771
Edinburgh Malformation Syndrome	Hydrocephalus, Death in infancy	OMIM:129850
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus	Skeletal muscle atrophy	OMIM:158500
Spastic Paraplegia 42, Autosomal Dominant	Skeletal muscle atrophy	OMIM:612539
Melanosis, Neurocutaneous	Death in infancy, Hydrocephalus, Choroid plexus papilloma, Syringomyelia, Dandy-Walker malformation	OMIM:249400
Neu-Laxova Syndrome	Flexion contracture, Abnormality of neuronal migration, Abnormal cortical gyration, Ventriculomeg...	ORPHA:2671
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:205200
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Agitation	ORPHA:100973
Spastic Paraplegia 31, Autosomal Dominant	Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness	OMIM:610250
Congenital Arthrogryposis With Anterior Horn Cell Disease	Paucity of anterior horn motor neurons, Facial diplegia, Dystonia, Skeletal muscle atrophy, Neona...	OMIM:611890
Hemimegalencephaly	Gray matter heterotopia, Ventriculomegaly, Gliosis, Pachygyria, Abnormal neuron morphology, Polym...	ORPHA:99802
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Ventriculomegaly, Muscular dystrophy, Agyria, Hyd...	OMIM:616538
Kerion Celsi	Lymphadenopathy	ORPHA:499
Autosomal Recessive Spastic Paraplegia Type 62	Knee flexion contracture, Skeletal muscle atrophy	ORPHA:401785
Amyotrophic Lateral Sclerosis Type 4	Skeletal muscle atrophy	ORPHA:357043
Caspase 8 Deficiency	Decreased T cell activation, Decreased circulating total IgM, Complete or near-complete absence o...	OMIM:607271
Mast Cell Sarcoma	Mastocytosis, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular heterotopia, Periventricular nodular heterotopia	OMIM:608097
Spastic Paraplegia 73, Autosomal Dominant	Skeletal muscle atrophy	OMIM:616282
Neuronopathy, Distal Hereditary Motor, Type Viii	Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Distal lower limb amyotrophy,...	OMIM:600175
Fried Syndrome	Hydrocephalus, Skeletal muscle atrophy	ORPHA:85335
Amyotrophic Lateral Sclerosis 9	Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:611895
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ...	OMIM:616812
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p...	OMIM:613954
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Flexion contractur...	OMIM:616470
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Congenital muscular dystrophy	ORPHA:1875
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:301008
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally...	OMIM:618655
Autosomal Recessive Spastic Paraplegia Type 63	Skeletal muscle atrophy	ORPHA:401805
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased circulating IgG2 level, Lymphadenopathy, Increased circulating IgM level, Splenomegaly,...	OMIM:615513
Mitochondrial Complex I Deficiency, Nuclear Type 23	Increased CSF lactate, Dystonia, Skeletal muscle atrophy	OMIM:618244
Epilepsy, Progressive Myoclonic, 9	Simplified gyral pattern, Generalized amyotrophy, Ventriculomegaly, Agenesis of corpus callosum	OMIM:616540
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Lower limb muscle weakness, Achilles tendon contracture, Distal upp...	OMIM:620068
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Hypoplasia of the musculature, Skeletal muscle atrophy, N...	OMIM:253310
Amyotrophic Lateral Sclerosis 1	Degeneration of the lateral corticospinal tracts, Skeletal muscle atrophy, Amyotrophic lateral sc...	OMIM:105400
Amyotrophic Lateral Sclerosis 8	Postural tremor, Morphological abnormality of the pyramidal tract, Skeletal muscle atrophy, Amyot...	OMIM:608627
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Myopathy, spheroid body	Proximal amyotrophy, Tremor, Myopathy, Skeletal muscle atrophy	OMIM:182920
Microhydranencephaly	Multiple joint contractures, Generalized amyotrophy, Ventriculomegaly, Hydranencephaly, Skeletal ...	OMIM:605013
Lipodystrophy, Familial Partial, Type 6	Muscular dystrophy, Myopathy, Skeletal muscle atrophy, Lower limb muscle weakness	OMIM:615980
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Muscular dystrophy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Mothe...	OMIM:226670
Phenylketonuria	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Depression, Anxiety...	OMIM:261600
Spastic Paraplegia 62, Autosomal Recessive	Skeletal muscle atrophy	OMIM:615681
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Proximal amyotrophy, Amyotrophic lateral sclerosis	OMIM:608030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Joint contracture, Generalized limb ...	OMIM:615351
Nemaline Myopathy 6	Skeletal muscle atrophy, Nemaline bodies, Myopathy, Limb muscle weakness	OMIM:609273
Spastic Paraplegia 18, Autosomal Recessive	Skeletal muscle atrophy, Lower limb muscle weakness	OMIM:611225
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
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture	OMIM:208100
Congenital Hydrocephalus	Ventriculomegaly, Abnormal cortical gyration, Hydrocephalus, Lissencephaly, Colpocephaly	ORPHA:2185
Spastic Paraplegia 63, Autosomal Recessive	Skeletal muscle atrophy	OMIM:615686
Lissencephaly 5	Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Subcortical band heterotopia, Occi...	OMIM:615191
Dysequilibrium Syndrome	Skeletal muscle atrophy	ORPHA:1766
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
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Aggressive behavior	OMIM:248510
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Absent specific antibody response, Follicular hyperplasia, Decreased circulating...	OMIM:619846
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Epilepsy, Pyridoxine-Dependent	Hydrocephalus	OMIM:266100
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua...	ORPHA:206549
Hyperprolinemia, Type I	Hyperactivity, Aggressive behavior	OMIM:239500
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration, Ventriculomegaly	ORPHA:1980
Masa Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:303350
Spastic Paraplegia 2, X-Linked	Flexion contracture, Lower limb muscle weakness, Skeletal muscle atrophy, Degeneration of the lat...	OMIM:312920
Pettigrew Syndrome	Flexion contracture, Ventriculomegaly, Choreoathetosis, Hydrocephalus, Dandy-Walker malformation	OMIM:304340
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dystonia, Dysplastic corpus callosum, Skeletal muscle atrophy, Type 1 muscle fiber predominance	OMIM:618276
Autosomal Dominant Spastic Paraplegia Type 41	Abnormal cerebrospinal fluid morphology, Spinal cord lesion, Degeneration of the lateral corticos...	ORPHA:320355
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha...	OMIM:604317
Alexander Disease	Death in infancy, Hydrocephalus, Death in adolescence, Increased CSF protein concentration, Death...	OMIM:203450
Developmental And Epileptic Encephalopathy 43	Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617113
Infantile-Onset X-Linked Spinal Muscular Atrophy	Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Degeneration of anterior horn...	ORPHA:1145
Mohr-Tranebjaerg Syndrome	Dystonia, Abnormal posturing, Tremor, Intrinsic hand muscle atrophy	OMIM:304700
Autosomal Dominant Spastic Paraplegia Type 42	Lower limb muscle weakness, Abnormal cerebrospinal fluid morphology, Spinal cord lesion, Degenera...	ORPHA:171863
Legg-Calvé-Perthes Disease	Skeletal muscle atrophy	ORPHA:2380
Nemaline Myopathy 10	Flexion contracture, Fatty replacement of skeletal muscle, Congenital contracture, Death in infan...	OMIM:616165
Congenital Disorder Of Glycosylation, Type Ie	Knee flexion contracture, Muscular dystrophy, Camptodactyly, Tremor, Ankle flexion contracture	OMIM:608799
Facial Onset Sensory And Motor Neuronopathy	Skeletal muscle atrophy	ORPHA:85162
1Q21.1 Microduplication Syndrome	Hydrocephalus, Arthrogryposis multiplex congenita	ORPHA:250994
Glycerol Kinase Deficiency	Muscular dystrophy, Myopathy	OMIM:307030
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Generalized amyotrophy, Shoulder girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle ...	OMIM:167320
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Flexion contracture	OMIM:300884
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Distal lower limb amyotrophy, Skeletal muscle atrophy, Foot dorsiflexor weakness, Lower limb musc...	OMIM:613287
Spastic Paraplegia 45, Autosomal Recessive	Skeletal muscle atrophy, Dysplastic corpus callosum, Flexion contracture	OMIM:613162
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:612069
Nemaline Myopathy 2	Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Fatt...	OMIM:256030
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Immunodeficiency, Common Variable, 2	Lymphadenopathy, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA leve...	OMIM:240500
Immunodeficiency 64 With Lymphoproliferation	Defective T cell proliferation, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgA le...	OMIM:618534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Gray matter heterotopia, Ventriculomegaly, Hydromyelia, Muscular dystrophy, Anencephaly, Hydrocep...	OMIM:615287
Amyotrophic Lateral Sclerosis 2, Juvenile	Retrocollis, Spasticity of facial muscles, Opisthotonus, Distal lower limb amyotrophy, Hand muscl...	OMIM:205100
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Death in infancy	OMIM:258320
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgE l...	OMIM:618982
Hemangioblastoma	Hydrocephalus, Upper limb muscle weakness, Lower limb muscle weakness, Spinal hemangioblastoma	ORPHA:252054
Oculopharyngodistal Myopathy 3	Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel...	OMIM:619473
Frontal Encephalocele	Spina bifida, Hydrocephalus, Encephalocele	ORPHA:1931
Pontocerebellar Hypoplasia, Type 1A	Basal ganglia gliosis, Spinal muscular atrophy, Lateral ventricle dilatation, Degeneration of ant...	OMIM:607596
Subependymal Nodular Heterotopia	Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Partia...	ORPHA:101030
Craniotelencephalic Dysplasia	Arrhinencephaly, Hydrocephalus, Lissencephaly, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Increased CSF lactate, Ragged-red muscle fibers	OMIM:300816
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, G...	OMIM:105550
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Joint contracture, Death in childhood, Spinal muscular atrophy	OMIM:616081
Autosomal Recessive Spastic Paraplegia Type 76	Skeletal muscle atrophy, Lower limb muscle weakness	ORPHA:488594
Gemignani Syndrome	Skeletal muscle atrophy	ORPHA:2074
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Fluctuating sp...	OMIM:619220
Spinal Muscular Atrophy, X-Linked 2	Flexion contracture, Multiple joint contractures, Spinal muscular atrophy, Degeneration of anteri...	OMIM:301830
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Attention deficit hyperactivity disorder, Bipolar affective disorder	OMIM:619927
Lennox-Gastaut Syndrome	Hyperactivity, Aggressive behavior, Personality disorder	ORPHA:2382
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Lissencephaly 8	Ventriculomegaly, Agyria, Type II lissencephaly, Skeletal muscle atrophy, Occipital encephalocele...	OMIM:617255
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:602099
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Scapuloperoneal Myopathy, X-Linked Dominant	Knee flexion contracture, Forearm supination contracture, Scapuloperoneal myopathy, Lower limb mu...	OMIM:300695
Early-Onset Schizophrenia	Diminished motivation, Abnormal emotion/affect behavior, Suicidal ideation, Unhappy demeanor, Emo...	ORPHA:96369
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Limb hypertonia, Ventriculomegaly, Simplified gyral pattern, Lissenc...	OMIM:616212
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Inappropriate behavior, Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting,...	OMIM:619827
Xq25 Microduplication Syndrome	Hyperactivity, Anxiety	ORPHA:521258
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Aggressive behavior, Anxiety	OMIM:609425
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Proximal amyotrophy, Hand tremor, Gliosis, Degeneration of anterior horn cells	OMIM:604484
Marinesco-Sjögren Syndrome	Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Skeletal mus...	ORPHA:559
Myopathy, X-Linked, With Postural Muscle Atrophy	Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor...	OMIM:300696
Classic Multiminicore Myopathy	Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Congenital muscular dy...	ORPHA:324604
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Limb-girdle muscular dystrophy, Ventriculomegaly, Calf muscle hypertrophy, Reduced muscle fiber a...	ORPHA:206559
Aicardi-Goutieres Syndrome 4	Ventriculomegaly, Hydrocephalus, CSF lymphocytic pleiocytosis, Death in childhood, Dystonia	OMIM:610333
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ...	ORPHA:3077
Myosclerosis, Autosomal Recessive	Neck joint contracture, Achilles tendon contracture, Skeletal muscle atrophy, Facial palsy	OMIM:255600
Nemaline Myopathy 4	Flexion contracture, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bodies, Skeletal...	OMIM:609285
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Muscular dystrophy, Myopathy, Limb-girdle muscular dystrophy, Muscle fiber atrophy	ORPHA:369840
Holoprosencephaly 5	Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ...	OMIM:609637
Ullrich Congenital Muscular Dystrophy 1	Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Cong...	OMIM:254090
Morm Syndrome	Hyperactivity, Aggressive behavior	ORPHA:75858
Arnold-Chiari Malformation Type Ii	Meningocele, Myelomeningocele, Aqueductal stenosis, Ventriculomegaly, Hand muscle atrophy, Hydroc...	ORPHA:1136
Developmental And Epileptic Encephalopathy 49	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:617281
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Aggressive behavior, Impulsivity, Anxiety, Abnormal eating behavior	ORPHA:101039
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased T cell activation, Decreased CD69 upregulation upon TCR activation, Lymphadenopathy, Me...	OMIM:300853
Usmani-Riazuddin Syndrome, Autosomal Dominant	Hyperactivity, Aggressive behavior, Self-injurious behavior, Depression, Anxiety	OMIM:619467
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety	OMIM:301013
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydrocephalus, Hypoplasia of the musculature, Dandy-Walker malformation, Hydran...	OMIM:225790
Polymicrogyria Due To Tubb2B Mutation	Gray matter heterotopia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Lissencephaly,...	ORPHA:300573
Neurocutaneous Melanocytosis	Meningocele, Ventriculomegaly, Abnormality of neuronal migration, Death in infancy, Syringomyelia...	ORPHA:2481
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lower-limb joint contracture, Skeletal muscle atrophy, Increased CSF lactate	OMIM:613710
Rosaï-Dorfman Disease	Lymphadenopathy, Dysgammaglobulinemia	ORPHA:158014
Fetal Akinesia Deformation Sequence 4	Prenatal death, Camptodactyly, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex ...	OMIM:618393
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Generalized limb mu...	OMIM:608358
Immunodeficiency 105	Decreased circulating total IgM, Decreased circulating antibody level, Hepatosplenomegaly, Decrea...	OMIM:619924
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Blepharospasm, Multiple joint contractures, Writer's cramp, Torticollis, Tors...	OMIM:128100
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,...	OMIM:616313
Muscular Dystrophy, Duchenne Type	Knee flexion contracture, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Achil...	OMIM:310200
Severe X-Linked Mitochondrial Encephalomyopathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Increased CSF lactate	ORPHA:238329
Mitochondrial Complex I Deficiency, Nuclear Type 31	Skeletal muscle atrophy, Death in childhood, Ventriculomegaly	OMIM:618251
Amyotrophic Lateral Sclerosis 4, Juvenile	Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Pallor of dorsal col...	OMIM:602433
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Weakness of facial musculature, Scapular winging, Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:617069
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Myopathy, Skeletal muscle atrophy	ORPHA:2597
Atrial Standstill	Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy, Left ventricular noncompaction	ORPHA:1344
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele	OMIM:182940
Carcinoma Of Esophagus	Lymphadenopathy	ORPHA:70482
Autoinflammation With Episodic Fever And Lymphadenopathy	Lymphadenopathy, Splenomegaly, Recurrent tonsillitis	OMIM:618852
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology, Intention tremor, Distal amyotrophy	OMIM:215470
Greig Cephalopolysyndactyly Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele...	OMIM:617760
Mu-Heavy Chain Disease	Increased circulating antibody level, Lymphadenopathy, Splenomegaly	ORPHA:100024
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosplenomegaly...	OMIM:613101
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Juvenile Amyotrophic Lateral Sclerosis	Retrocollis, Lower-limb joint contracture, Muscle fiber atrophy, Opisthotonus, Axial dystonia, Sk...	ORPHA:300605
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Polymicrogyria	ORPHA:83473
Spinocerebellar Ataxia 18	Limb muscle weakness, Tremor, Skeletal muscle atrophy	OMIM:607458
Immunodeficiency 104	Lymphadenopathy, Splenomegaly	OMIM:608971
Roussy-Lévy Syndrome	Lower limb muscle weakness, Postural tremor, Skeletal muscle atrophy, Intrinsic hand muscle atrop...	ORPHA:3115
Spastic Paraplegia 64, Autosomal Recessive	Skeletal muscle atrophy	OMIM:615683
Myopathy, Scapulohumeroperoneal	Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f...	OMIM:616852
Immunodeficiency With Hyper-Igm, Type 4	Impaired Ig class switch recombination, Absence of lymph node germinal center	OMIM:608184
Myopathy, Centronuclear, 1	Flexion contracture, Centrally nucleated skeletal muscle fibers, Proximal upper limb amyotrophy, ...	OMIM:160150
Landau-Kleffner Syndrome	Hyperactivity, Aggressive behavior, Emotional lability, Impulsivity, Attention deficit hyperactiv...	ORPHA:98818
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Flexion contracture, Muscle fiber atrophy, Muscular dystrophy, Congenital muscular dystrophy, Mac...	ORPHA:258
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Knee flexion contracture, Ventriculomegaly, Hydrocephalus, Skeletal muscle atrophy, Pachygyria, P...	OMIM:603387
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Aggressive behavior, Self-injurious behavior	ORPHA:382
Dpm1-Cdg	Knee flexion contracture, Camptodactyly, Ventriculomegaly, Muscular dystrophy	ORPHA:79322
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Calf muscle hypertrophy, Achilles tendon contracture, Congenital muscular dystrophy, Macroglossia...	OMIM:607155
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr...	OMIM:117000
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:614120
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity	OMIM:301076
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Ventriculomegaly, Agenesis of corpus callosum, Pachygyria	ORPHA:2512
Leber Optic Atrophy And Dystonia	Increased CSF lactate, Dystonia, Athetosis, Skeletal muscle atrophy	OMIM:500001
Corpus Callosum, Partial Agenesis Of, X-Linked	Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:304100
Glutathionuria	Gray matter heterotopia, Tremor, Action tremor, Agenesis of corpus callosum	OMIM:231950
Extensor Tendons Of Finger Anomalies	Camptodactyly of finger, Skeletal muscle atrophy	ORPHA:3294
Rigid Spine Syndrome	Hip contracture, Elbow flexion contracture, Myopathy, Skeletal muscle atrophy, Hamstring contract...	ORPHA:97244
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Lymphadenopathy, Impaired T cell function, Decreased circulating...	OMIM:607594
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Congenital contracture, Agyria, Hydrocephalus, Congenital muscular dystrophy, M...	OMIM:236670
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6	Distal arthrogryposis, Plantar flexion contracture, Wrist drop, Diaphragmatic eventration, Skelet...	OMIM:620011
Nemaline Myopathy 5	Z-band streaming, Hip contracture, Shoulder flexion contracture, Type 1 muscle fiber predominance...	OMIM:605355
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Dystonia, Oculogyric crisis, Tremor, Skeletal muscle atrophy	ORPHA:330050
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety	OMIM:271980
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Alpha-Heavy Chain Disease	Lymphadenopathy, Splenomegaly, Dysgammaglobulinemia	ORPHA:100025
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly, Polymicrogyria	OMIM:602501
Combined Oxidative Phosphorylation Deficiency 13	Increased CSF lactate, Dystonia, Choreoathetosis, Skeletal muscle atrophy	OMIM:614932
Hydrocephalus, Congenital, X-Linked	Hydrocephalus, Corticospinal tract hypoplasia, Aqueductal stenosis, Agenesis of corpus callosum	OMIM:307000
Greig Cephalopolysyndactyly Syndrome	Ventriculomegaly, Joint contracture of the hand, Abnormal muscle fiber morphology, Hydrocephalus,...	OMIM:175700
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Flexion contracture, Perisylvian polymicrogyria, Mu...	OMIM:618291
L1 Syndrome	Hydrocephalus, Skeletal muscle atrophy, Aqueductal stenosis	ORPHA:275543
Neuropathy, Congenital Hypomyelinating, 2	Facial diplegia, Distal amyotrophy, Skeletal muscle atrophy	OMIM:618184
Glycogen Storage Disease Ixd	Lower limb muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosi...	OMIM:300559
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Aggressive behavior	OMIM:615541
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis	OMIM:617070
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Gray matter heterotopia, Ventriculomegaly, Simplified gyral pattern, Communicating hydrocephalus,...	OMIM:615219
Machado-Joseph Disease Type 3	Dilated fourth ventricle, Distal lower limb amyotrophy, Degeneration of anterior horn cells, Subs...	ORPHA:276244
Follicular Lymphoma	Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:545
Immunodeficiency 52	Lymphadenopathy, Splenomegaly, Decreased circulating antibody level	OMIM:617514
Intellectual Developmental Disorder, X-Linked 30	Hyperactivity, Aggressive behavior, Agitation, Anxiety, Restlessness	OMIM:300558
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Limb-girdle muscle weakness, Macroglossia, Calf muscle pseudohypertrophy, Skeletal muscle atrophy...	ORPHA:352479
Autoimmune Lymphoproliferative Syndrome, Type Iii	Absent isohemagglutinin level, Reduced natural killer cell activity, Increased circulating antibo...	OMIM:615559
Brain Small Vessel Disease 2	Subcortical heterotopia, Ventriculomegaly, Polymicrogyria	OMIM:614483
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Increased variability in muscle fiber diameter, Flexion contracture, Spinal muscular atrophy, Abn...	OMIM:616867
Thanatophoric Dysplasia Type 2	Encephalocele, Abnormality of neuronal migration, Ventriculomegaly, Hydrocephalus, Holoprosencephaly	ORPHA:93274
Immunodeficiency 27A	Increased circulating IgG level, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgM l...	OMIM:209950
Lethal Congenital Contracture Syndrome 7	Knee flexion contracture, Facial diplegia, Distal arthrogryposis, Skeletal muscle atrophy	OMIM:616286
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Inappropriate laughter, Polyphagia, Happy demeanor	ORPHA:411515
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Axial muscle atrophy, Limb-girdle muscle weakness, Calf muscle hypertrophy, Achilles tendon contr...	ORPHA:254361
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:444463
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Aase-Smith Syndrome I	Hydrocephalus, Flexion contracture, Dandy-Walker malformation, Death in infancy	OMIM:147800
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Spina bifida occulta, Skeletal muscle atrophy	ORPHA:2840
Amish Nemaline Myopathy	Hip contracture, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder flexion...	ORPHA:98902
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center, Increased circulating IgE level, Lack of T...	ORPHA:277
Pontocerebellar Hypoplasia Type 1	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Degeneration of anterior horn cells	ORPHA:2254
Charcot-Marie-Tooth Disease Type 1F	Distal lower limb amyotrophy, Hand muscle atrophy, Proximal lower limb amyotrophy, Hand tremor, C...	ORPHA:101085
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:2182
Nathalie Syndrome	Skeletal muscle atrophy	OMIM:255990
Muscle-Eye-Brain Disease	Meningocele, Myopathy, Holoprosencephaly, Hydrocephalus	ORPHA:588
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:86893
Leber Congenital Amaurosis	Encephalocele, Abnormality of neuronal migration	ORPHA:65
Indolent Systemic Mastocytosis	Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Abnormal mast cell morph...	ORPHA:98848
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Dandy-Walker malformation, Agenesis of corpus callosum, Orbital encephal...	OMIM:164180
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Simplified gyral pattern, Partial agenesis of the corpus callosum, Periventricular heterotopia	OMIM:616171
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Skeletal muscle atrophy	ORPHA:101078
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Increased circulating IgE level	OMIM:212050
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Weakness of facial musculature, Abnormality of the spinocerebellar tract...	ORPHA:329336
Myopathy, X-Linked, With Excessive Autophagy	Flexion contracture, Proximal lower limb amyotrophy, Muscle fiber necrosis, Myopathy, Skeletal mu...	OMIM:310440
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:618577
Intermediate Nemaline Myopathy	Flexion contracture, EMG: myopathic abnormalities, Facial diplegia, Nemaline bodies, Type 1 muscl...	ORPHA:171433
Ataxia-Deafness-Intellectual Disability Syndrome	Skeletal muscle atrophy, Ventriculomegaly	ORPHA:1188
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle atrophy, Skeletal muscle hypertrophy, Increased CSF protein concentration	ORPHA:101082
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Self-mutilation	OMIM:615516
Huntington Disease-Like 1	Abnormal posturing, Gliosis, Ventriculomegaly	ORPHA:157941
Congenital Muscular Dystrophy Due To Lmna Mutation	Myopathy, Flexion contracture, Skeletal muscle atrophy, Death in infancy	ORPHA:157973
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
S-Adenosylhomocysteine Hydrolase Deficiency	Muscular dystrophy, Ventriculomegaly	ORPHA:88618
Autosomal Dominant Spastic Paraplegia Type 6	Skeletal muscle atrophy, Postural tremor	ORPHA:100988
Gm1-Gangliosidosis, Type Iii	Dystonia, Skeletal muscle atrophy, Ventriculomegaly	OMIM:230650
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Flexion contracture, Ventriculomegaly, Limb tremor, Facial diplegia, Tremor, Skeletal muscle atro...	OMIM:218000
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration	ORPHA:1895
Marden-Walker Syndrome	Camptodactyly of finger, Muscular dystrophy, Hydrocephalus, Aplasia/Hypoplasia involving the skel...	ORPHA:2461
Chromosome 17P13.1 Deletion Syndrome	Knee flexion contracture, Elbow flexion contracture, Hydrocephalus	OMIM:613776
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Aggressive behavior	OMIM:612716
Periventricular Nodular Heterotopia 7	Knee flexion contracture, Gray matter heterotopia, Choroid plexus cyst, Elbow contracture, Perive...	OMIM:617201
Spinal muscular atrophy, type I, with congenital bone fractures	Flexion contracture, Decreased muscle mass, Generalized amyotrophy, Degeneration of anterior horn...	OMIM:271225
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1	Camptodactyly of finger, Denervation of the diaphragm, Spinal muscular atrophy, Diaphragmatic eve...	OMIM:604320
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Intellectual Developmental Disorder, X-Linked 12	Tremor, Abnormality of neuronal migration, Ventriculomegaly, Gliosis	OMIM:300957
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Mitochondrial Complex I Deficiency, Nuclear Type 17	Dystonia, Generalized dystonia, Skeletal muscle atrophy	OMIM:618239
Postsynaptic Congenital Myasthenic Syndromes	Weakness of long finger extensor muscles, Abnormality of masticatory muscle, Triceps weakness, We...	ORPHA:98913
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Decreased muscle mass, Skeletal muscle atrophy, Type 2 muscle fiber atrophy, Arthrogryposis multi...	OMIM:608931
Adams-Oliver Syndrome 2	Lateral ventricle dilatation, Hydrocephalus, Limb hypertonia, Polymicrogyria	OMIM:614219
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Skeletal muscle atrophy, Foot dorsiflexor weakness	OMIM:137200
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Neurogenic Arthrogryposis Multiplex Congenita	Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Lower ...	ORPHA:1143
Graves Disease, Susceptibility To, 1	Hyperactivity, Irritability, Polyphagia	OMIM:275000
Lipodystrophy, Congenital Generalized, Type 4	Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal...	OMIM:613327
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
Infantile Sialic Acid Storage Disease	Hydrocephalus, Death in childhood	OMIM:269920
Charcot-Marie-Tooth Disease Type 1A	Skeletal muscle atrophy, Calf muscle hypertrophy	ORPHA:101081
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Agenesis of corpus callosum, Abnormality of the anterior commissure	OMIM:617542
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Death in infancy	OMIM:600559
Spastic Paraplegia 11, Autosomal Recessive	Lower limb muscle weakness, Thenar muscle atrophy, Skeletal muscle atrophy, Degeneration of the l...	OMIM:604360
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Absent extraocular muscles, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:109120
Carnitine Palmitoyltransferase Ii Deficiency	Abnormality of neuronal migration, Rhabdomyolysis, Hydrocephalus, Myopathy, Pachygyria, Agenesis ...	ORPHA:157
Iniencephaly	Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Lis...	ORPHA:63259
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Flexion contracture, Intrinsic hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb mu...	ORPHA:101097
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Decreased T cell activation, Enlarged tonsils, Decreased circulating IgE, Impaired ...	OMIM:308230
Developmental Delay, Language Impairment, And Ocular Abnormalities	Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity	OMIM:620141
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Abnormality of neuronal migration, Agenesis of corpus callosum, Microlis...	ORPHA:89844
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele, Macroglossia	ORPHA:1914
Congenital Myopathy 13	Fatty replacement of skeletal muscle, Flexion contracture, Skeletal muscle atrophy, Ventriculomegaly	OMIM:255995
Intellectual Developmental Disorder, Autosomal Dominant 36	Facial hypotonia, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:616362
Juvenile Hyaline Fibromatosis	Progressive flexion contractures, Skeletal muscle atrophy, Death in infancy	ORPHA:2028
Oxoglutaric Aciduria	Hydrocephalus, Skeletal muscle atrophy	ORPHA:31
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Central Precocious Puberty	Hydrocephalus	ORPHA:759
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Coach Syndrome 2	Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Knee flexion contracture, Elbow flexion contracture, Achilles tendon contracture, Decreased cervi...	OMIM:310300
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Generalized amyotrophy, EMG...	OMIM:258450
Thanatophoric Dysplasia	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	ORPHA:2655
Vacterl Association With Hydrocephalus	Hydrocephalus, Aqueductal stenosis, Stillbirth	OMIM:276950
Lymphoproliferative Syndrome, X-Linked, 1	Reduced natural killer cell activity, Decreased circulating antibody level, Lymphadenopathy, Incr...	OMIM:308240
Desmosterolosis	Abnormality of neuronal migration, Abnormal cortical gyration, Ventriculomegaly, Macrogyria, Hydr...	ORPHA:35107
Machado-Joseph Disease Type 1	Dilated fourth ventricle, Distal lower limb amyotrophy, Substantia nigra gliosis, Skeletal muscle...	ORPHA:276238
Machado-Joseph Disease Type 2	Dilated fourth ventricle, Distal lower limb amyotrophy, Substantia nigra gliosis, Skeletal muscle...	ORPHA:276241
Immunodeficiency 76	Lymphadenopathy, Splenomegaly	OMIM:619164
Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:98293
Intellectual Developmental Disorder, Autosomal Dominant 35	Congenital muscular torticollis, Hydrocephalus, Ventriculomegaly, Facial hypotonia	OMIM:616355
Adrenal Hypoplasia, Congenital	Muscular dystrophy	OMIM:300200
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Muscular dystrophy, Hydrocephalus, Type II lissencephaly, Pachygyria, Polymicro...	OMIM:253280
Charcot-Marie-Tooth Disease, Type 4B3	Upper limb muscle weakness, Skeletal muscle atrophy, Lower limb muscle weakness, Distal lower lim...	OMIM:615284
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Resting tremor, Titubation, Hypomimic face, Dystonia	ORPHA:225147
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Schnitzler Syndrome	Lymphadenopathy, Splenomegaly, Increased circulating IgM level	ORPHA:37748
Joubert Syndrome	Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Tremor, Polymicrogyria	ORPHA:475
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Metatropic Dysplasia	Camptodactyly of finger, Hydrocephalus	ORPHA:2635
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration, Ventriculomegaly	ORPHA:2772
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy	ORPHA:868
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia, Ventriculomegaly	OMIM:618273
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Myopathy, Skeletal muscle atrophy	ORPHA:300179
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Lymphadenopathy, Increased circulating IgG level, Splenomegaly	OMIM:618495
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Charcot-Marie-Tooth Disease, Type 4K	Dystonia, Skeletal muscle atrophy	OMIM:616684
Diabetic Embryopathy	Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysraphism, Hydrocephalus	ORPHA:1926
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Death in infancy	OMIM:241800
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Distal arthrogryposis, Periventricular heterotopia, Ventriculomegaly, Hydrocephalus, Colpocephaly	OMIM:619833
Combined Oxidative Phosphorylation Deficiency 24	Weakness of facial musculature, Myopathy, Skeletal muscle atrophy, Gliosis, Increased CSF lactate...	OMIM:616239
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Skeletal muscle atrophy, Ventriculomegaly, Agenesis of corpus callosum	OMIM:618603
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Spinal dysraphism, Encephalocele, Anencephaly, Hydrocephalus, Holoprosencephaly	ORPHA:1908
Myopathy, Centronuclear, X-Linked	Flexion contracture, Diaphragmatic eventration, Hydrocephalus, Dandy-Walker malformation, Facial ...	OMIM:310400
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Skeletal muscle atrophy, Distal amyotrophy, Limb muscle weakness, Intrinsic hand muscle atrophy	OMIM:614895
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Hydrocephalus, Congenital diaphragmatic hernia, Dandy-Walker malformation, Poly...	ORPHA:1647
Generalized Eruptive Histiocytosis	Lymphadenopathy	ORPHA:157991
Myopathy, Myofibrillar, 7	Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Multiple j...	OMIM:617114
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Tremor, Agenesis of corpus callosum, Polymicrogyria	ORPHA:220497
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Skeletal muscle atrophy, Hand muscle atrophy	ORPHA:99944
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Skeletal muscle atrophy, Increased CSF lactate, Neonatal death, Death in childhood	OMIM:245400
Mosaic Variegated Aneuploidy Syndrome	Ventriculomegaly, Muscular dystrophy, Holoprosencephaly, Dandy-Walker malformation, Rhabdomyosarcoma	ORPHA:1052
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ventriculomegaly, Limb hypertonia, Generalized amyotrophy, Tremor, Skeletal muscle atrophy, Athet...	OMIM:617710
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Foot joint contracture, Dystonia, Skeletal muscle atrophy	ORPHA:457205
Spinocerebellar Ataxia Type 18	Titubation, Head tremor, Skeletal muscle atrophy	ORPHA:98771
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers	ORPHA:480
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Myositis, Myopathy, Skeletal mu...	OMIM:615422
Dysplastic Cortical Hyperostosis	Abnormality of neuronal migration	ORPHA:2204
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta, Posterolateral diaphragmatic...	ORPHA:2437
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:218350
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the spleen	ORPHA:543
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Ventriculomegaly, Hydrocephalus, Camptodactyly, Lissencephaly, Arthrogry...	OMIM:617822
Holoprosencephaly 14	Gray matter heterotopia, Periventricular heterotopia, Aqueductal stenosis, Ventriculomegaly, Hydr...	OMIM:619895
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Decreased circulating antibody level, Lymphadenopathy, Decreased...	OMIM:616100
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Weakness of facial musculature, Myopathy, Skeletal muscle atrophy, Spinal muscular atrophy	ORPHA:254875
Spastic Paraplegia 76, Autosomal Recessive	Skeletal muscle atrophy, Lower limb muscle weakness	OMIM:616907
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Generalized dystonia, Opisthotonus	ORPHA:216866
Fish-Eye Disease	Lymphadenopathy, Splenomegaly	ORPHA:79292
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Skeletal muscle atrophy	OMIM:616719
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Death in childhood, Dandy-Walker malformation, Lissencephaly	OMIM:612938
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	OMIM:219730
Spastic Paraplegia 39, Autosomal Recessive	Distal amyotrophy, Distal lower limb muscle weakness, Atrophy of the spinal cord	OMIM:612020
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Flexion contracture	OMIM:613330
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Neonatal death, Hydrocephalus	OMIM:187600
Tularemia	Increased circulating antibody level, Abnormal nasopharyngeal adenoid morphology, Lymphadenopathy...	ORPHA:3392
Developmental Delay With Variable Neurologic And Brain Abnormalities	Knee flexion contracture, Gray matter heterotopia, Camptodactyly	OMIM:619694
Joubert Syndrome 30	Gray matter heterotopia, Ventriculomegaly, Dandy-Walker malformation	OMIM:617622
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Lateral ventricle dilatation, Simplified gyral pattern, Torticolli...	ORPHA:300570
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	ORPHA:803
Classical-Like Ehlers-Danlos Syndrome Type 1	Spina bifida occulta, Skeletal muscle atrophy	ORPHA:230839
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular heterotopia, Ventriculomegaly, Corticospinal tract hypoplasia, Pachygyria, Agenes...	ORPHA:255138
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Ventriculomegaly, Abnormal cortical gyration, Death in infancy	OMIM:614576
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Choreoathetosis, Hydrocephalus, Skeletal muscle atrophy, Opisthotonus	OMIM:614969
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Tremor, Limb muscle weakness, Facial palsy	ORPHA:97229
Bresek Syndrome	Neonatal death, Hydrocephalus	ORPHA:85284
Autoimmune Lymphoproliferative Syndrome, Type Iia	Lymphadenopathy, Follicular hyperplasia, Increased circulating IgA level, Increased circulating I...	OMIM:603909
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Rhabd...	OMIM:620138
Temple Syndrome	Hydrocephalus, Flexion contracture	OMIM:616222
Arachnoid Cyst	Encephalocele, Lower limb muscle weakness, Hydrocephalus, Spinal arachnoid cyst, Spinal cord comp...	ORPHA:2356
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus, Tremor, Agenesis of corpus callosum, Polymicrogyria	ORPHA:220493
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Skeletal muscle atrophy	OMIM:183050
Sialidosis Type 2	Tremor, Flexion contracture, Skeletal muscle atrophy	ORPHA:87876
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Lhermitte-Duclos Disease	Hydrocephalus, Macroglossia, Polymicrogyria	ORPHA:65285
Pfapa Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:42642
3C Syndrome	Abnormality of neuronal migration, Ventriculomegaly, Death in infancy, Hydrocephalus, Dandy-Walke...	ORPHA:7
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
Galloway-Mowat Syndrome	Aqueductal stenosis, Camptodactyly of finger, Abnormality of neuronal migration, Pachygyria	ORPHA:2065
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity diso...	ORPHA:449291
Spinocerebellar Ataxia Type 3	Dystonia, Skeletal muscle atrophy	ORPHA:98757
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Exencephaly, Encephalocele, Abnormality of neuronal migration, Abnormal cortical gyration, Macrog...	ORPHA:2211
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Muscular dystrophy	ORPHA:300751
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly, Polymicrogyria	ORPHA:60040
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Myositis, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Calf muscle hypertrophy	ORPHA:565899
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus	ORPHA:171839
Temple Syndrome	Hydrocephalus	ORPHA:254516
Cleft Palate-Large Ears-Small Head Syndrome	Skeletal muscle atrophy	ORPHA:2013
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Tremor, Oromandibular dystonia, Scapular winging, General...	OMIM:614298
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Attention deficit hyperactivity disorder, Anxiety	OMIM:617600
Posterior Column Ataxia With Retinitis Pigmentosa	Joint contracture of the hand, Camptodactyly, Hyperintensity of MRI T2 signal of the spinal cord,...	OMIM:609033
Lateral Meningocele Syndrome	Meningocele, Decreased muscle mass, Hydrocephalus, Syringomyelia, Tethered cord, Dural ectasia	OMIM:130720
Congenital Myopathy 19	Facial hypotonia, Skeletal muscle atrophy, Congenital contracture	OMIM:618578
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Self-biting	OMIM:618314
Japanese Encephalitis	CSF pleocytosis, Paucity of anterior horn motor neurons, Elbow flexion contracture, Choreoathetos...	ORPHA:79139
Lymphoproliferative Syndrome 2	Hepatosplenomegaly, Lymphadenopathy, Splenomegaly, Decreased circulating antibody level	OMIM:615122
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormalities, Skeletal...	OMIM:615418
Amyotrophic Dystonic Paraplegia	Dystonia, Skeletal muscle atrophy	OMIM:105300
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-...	OMIM:618476
Glutaric Acidemia I	Lateral ventricle dilatation, Choreoathetosis, Hydrocephalus, Opisthotonus, Dystonia	OMIM:231670
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Trisomy 1Q	Camptodactyly of finger, Ventriculomegaly, Hydrocephalus, Congenital diaphragmatic hernia, Agenes...	ORPHA:261344
X-Linked Adrenoleukodystrophy	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Inappropriate sexua...	ORPHA:43
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Gray matter heterotopia	OMIM:615960
Intellectual Developmental Disorder, Autosomal Dominant 65	Facial hypotonia, Noncommunicating hydrocephalus, Agenesis of corpus callosum	OMIM:619320
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Pontocerebellar Hypoplasia, Type 16	Skeletal muscle atrophy, Ventriculomegaly, Limb hypertonia	OMIM:619527
Posterior Meningocele	Meningocele, Hydromyelia, Occipital meningocele, Neural tube defect, Hydrocephalus, Tethered cord...	ORPHA:268810
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Triploidy	Meningocele, Holoprosencephaly, Hydrocephalus, Macroglossia	ORPHA:3376
Emanuel Syndrome	Ventriculomegaly, Torticollis, Hydrocephalus, Congenital diaphragmatic hernia, Joint contracture,...	OMIM:609029
Autosomal Recessive Spastic Paraplegia Type 26	Dystonia, Skeletal muscle atrophy	ORPHA:101006
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Abnormality of neuronal migration, Ventriculomegaly, Holoprosencephaly, ...	ORPHA:261236
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia, Ventriculomegaly	OMIM:618974
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Increased circulating antibody level, Lymphadenopathy	ORPHA:69126
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Albers-Schönberg Osteopetrosis	Hydrocephalus, Facial palsy	ORPHA:53
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Agenesis of corpus callosum, Decreased muscle mass	OMIM:612940
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Increased circulating IgG level, Abnormal circulating IgM level, Increased circu...	OMIM:618048
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly	OMIM:612840
Boutonneuse Fever	Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Cervical lymph...	ORPHA:83313
Classic Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Knee flexion contracture, Abnormality of neuronal migration, Ventriculomegaly, Death in infancy, ...	OMIM:608836
Histidinemia	Hyperactivity	ORPHA:2157
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Encephalocele, Abnormality of neuronal migration	ORPHA:2318
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Flexion contracture, Abnormal muscle glycogen content, Myopathy, Skeletal muscle atrophy, Abnorma...	ORPHA:367
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly	OMIM:615630
Duchenne Muscular Dystrophy	Flexion contracture, Skeletal muscle atrophy, Calf muscle hypertrophy	ORPHA:98896
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Lower limb muscle weakness, Atrophy of the spinal cord, Ventriculomegaly	ORPHA:395
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Camptodactyly, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:459061
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing	OMIM:614857
Sandhoff Disease, Juvenile Form	Skeletal muscle atrophy, Limb joint contracture	ORPHA:309162
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:609757
Myopathy Due To Myoadenylate Deaminase Deficiency	Myopathy, Skeletal muscle atrophy, Rhabdomyolysis	OMIM:615511
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	ORPHA:1860
Hydrolethalus	Anencephaly, Arrhinencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2189
Spinocerebellar Ataxia 1	Dilated fourth ventricle, Dorsal column degeneration, Skeletal muscle atrophy, Distal amyotrophy,...	OMIM:164400
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormality of neuronal migration, Ventriculomegaly, Hydrocephalus, Pachygyria, Agenesis of corpu...	ORPHA:228308
Pontocerebellar Hypoplasia, Type 11	Skeletal muscle atrophy, Agenesis of corpus callosum	OMIM:617695
X-Linked Intellectual Disability, Miles-Carpenter Type	Skeletal muscle atrophy	ORPHA:85283
Distal Tetrasomy 15Q	Flexion contracture, Hydrocephalus, Camptodactyly, Syringomyelia, Dandy-Walker malformation	ORPHA:314588
Immune-Mediated Necrotizing Myopathy	Muscle fiber necrosis, Myositis, EMG: myopathic abnormalities, Myopathy, Skeletal muscle atrophy,...	ORPHA:206569
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Ventriculomegaly, Macroglossia, Partial agenesis of the corpus callosum,...	OMIM:619775
Spinocerebellar Ataxia Type 1	Dystonia, Skeletal muscle atrophy, Postural tremor, Abnormality of masticatory muscle	ORPHA:98755
Mucopolysaccharidosis, Type Ii	Hydrocephalus, Flexion contracture, Cervical cord compression, Macroglossia	OMIM:309900
Isolated Succinate-Coq Reductase Deficiency	Knee flexion contracture, Skeletal myopathy, Left ventricular hypertrophy, Skeletal muscle atroph...	ORPHA:3208
Meckel Syndrome, Type 4	Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation	OMIM:611134
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy	ORPHA:371
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Death in infancy	ORPHA:163966
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Emanuel Syndrome	Multiple joint contractures, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Congenit...	ORPHA:96170
Deafness-Vitiligo-Achalasia Syndrome	Skeletal muscle atrophy	ORPHA:3239
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Skeletal muscle atrophy, Joint contracture	OMIM:615419
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Opisthotonus, Skeletal muscle atrophy	OMIM:616896
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Splenomegaly	OMIM:611762
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Immunodeficiency 97 With Autoinflammation	Decreased circulating total IgM, Decreased circulating antibody level, Hepatosplenomegaly, Lympha...	OMIM:619802
Sandifer Syndrome	Abnormal posturing, Torticollis	ORPHA:71272
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Trisomy 17P	Skeletal muscle atrophy, Hydrocephalus, Flexion contracture, Macroglossia	ORPHA:261290
Duchenne And Becker Muscular Dystrophy	Myopathy, Skeletal muscle atrophy	ORPHA:262
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Ventriculomegaly, Lower limb hypertonia	ORPHA:2169
Hyperkalemic Periodic Paralysis	Flexion contracture, Death in infancy, Myopathy, Death in early adulthood, Skeletal muscle hypert...	ORPHA:682
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycorrhachia, Hydrocephalus, Left ventricular hypertrophy, Increased CSF lactate	ORPHA:90065
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy	ORPHA:2400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating antibody level, Increased circulating IgE level, Hepatosplenomegaly, Lympha...	ORPHA:169154
Leishmaniasis	Increased circulating antibody level, Lymphadenopathy, Splenomegaly	ORPHA:507
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Skeletal muscle atrophy, Joint contracture	OMIM:617481
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Sacral Defect With Anterior Meningocele	Meningocele, Myelomeningocele, Hydromyelia, Hydrocephalus, Tethered cord, Myeloschisis, Dermal si...	OMIM:600145
Marfanoid-Progeroid-Lipodystrophy Syndrome	Scapular winging, Hydrocephalus, Lateral ventricular asymmetry, Dural ectasia	OMIM:616914
Large Congenital Melanocytic Nevus	Hydrocephalus, Rhabdomyosarcoma	ORPHA:626
Ataxia-Telangiectasia	Tremor, Skeletal muscle atrophy	ORPHA:100
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Limb muscle weakness, Skeletal muscle atrophy, Increased CSF protein concentration	OMIM:612300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness	OMIM:616479
Pagod Syndrome	Meningocele, Encephalocele, Abnormality of neuronal migration, Death in infancy, Spina bifida, Co...	ORPHA:991
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Skeletal muscle atrophy	OMIM:615578
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:77298
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Hand tremor, Skeletal muscle atrophy	OMIM:162400
1Q44 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:238769
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Pelvis-Shoulder Dysplasia	Spina bifida, Hydranencephaly, Hydrocephalus, Camptodactyly of finger	ORPHA:2839
Severe Congenital Nemaline Myopathy	Flexion contracture, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bodies, Skeletal...	ORPHA:171430
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Death in early adulthood, Abnormality of neuronal migration, Ventriculom...	ORPHA:192
Ataxia With Vitamin E Deficiency	Dystonia, Tremor, Skeletal muscle atrophy	ORPHA:96
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Impaired oxidative burst, Splenomegaly, Recur...	OMIM:618935
Sézary Syndrome	Abnormal immunoglobulin level, Lymphadenopathy, Splenomegaly	ORPHA:3162
Stromme Syndrome	Myopathy, Hydrocephalus, Stillbirth, Agenesis of corpus callosum	OMIM:243605
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Rhabdomyolysis, Increased intramyocellular lipid droplets, Skeletal musc...	ORPHA:26791
Mitochondrial Complex I Deficiency, Nuclear Type 37	Increased CSF lactate, Opisthotonus, Skeletal muscle atrophy, Ventriculomegaly	OMIM:619272
Allan-Herndon-Dudley Syndrome	Flexion contracture, Limb hypertonia, Choreoathetosis, Skeletal muscle atrophy, Dystonia	ORPHA:59
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Flexion contracture	ORPHA:158684
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Skeletal muscle atrophy	OMIM:254950
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Dyssegmental Dysplasia, Silverman-Handmaker Type	Flexion contracture, Hydrocephalus, Encephalocele, Miscarriage	ORPHA:1865
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Polymicrogyria	OMIM:264480
Arachnoiditis	Hydrocephalus	ORPHA:137817
Peho Syndrome	Hydrocephalus, Flexion contracture, Arthrogryposis multiplex congenita, Ventriculomegaly	ORPHA:2836
Developmental And Epileptic Encephalopathy 51	Increased CSF lactate, Dystonia, Skeletal muscle atrophy	OMIM:617339
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Ventriculomegaly	ORPHA:1933
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Anencephaly, Hydrocephalus, Polymicrogyria	OMIM:616546
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Dystonia, Periventricular heterotopia, Lateral ventricle dilatation	OMIM:614105
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Dystonia, Tremor, Skeletal muscle atrophy, Resting tremor	OMIM:615157
Glutaryl-Coa Dehydrogenase Deficiency	Ventriculomegaly, Limb dystonia, Communicating hydrocephalus, Subependymal nodules, Tremor, Athet...	ORPHA:25
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal neuron morphology, Abnormality of neuronal migration	ORPHA:163681
Marinesco-Sjogren Syndrome	Flexion contracture, Centrally nucleated skeletal muscle fibers, Myopathy, Skeletal muscle atroph...	OMIM:248800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Rhabdomyolysis, Resting tremor, Hand tremor, Musc...	OMIM:157640
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Syringomyelia	ORPHA:531151
Hereditary Sensory And Autonomic Neuropathy Type 2	Skeletal muscle atrophy	ORPHA:970
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration, Tremor	ORPHA:1454
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:612582
Holoprosencephaly	Spinal dysraphism, Encephalocele, Abnormality of neuronal migration, Spinal cord tumor, Hydroceph...	ORPHA:2162
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Joint contracture	OMIM:615704
Cold Agglutinin Disease	Lymphadenopathy, Splenomegaly	ORPHA:56425
Tenorio Syndrome	Hydrocephalus, Macroglossia, Ventriculomegaly	OMIM:616260
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, Splenomegaly	OMIM:150550
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Lymphoproliferative Syndrome 1	Decreased circulating antibody level, Lymphadenopathy, Splenomegaly, Decreased circulating IgG level	OMIM:613011
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Congenital diaphragmatic hernia, Abnormality of neuronal migration	ORPHA:2063
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus, Facial paralysis	OMIM:259710
Medulloblastoma	Spinal cord tumor, Hydrocephalus, Intention tremor	ORPHA:616
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Hydrocephalus	ORPHA:1834
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Hydrocephalus	ORPHA:2075
Spinocerebellar Ataxia Type 36	Hand tremor, Head tremor, Skeletal muscle atrophy, Intention tremor	ORPHA:276198
Vici Syndrome	Gray matter heterotopia, Abnormal posturing, Left ventricular hypertrophy, Myopathy, Agenesis of ...	OMIM:242840
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Hydrocephalus	OMIM:314390
Tay-Sachs Disease	Exaggerated startle response, Quadriceps muscle atrophy, Lower limb muscle weakness, Ventriculome...	ORPHA:845
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Camptodactyly, Hydrocephalus, Encephalocele, Joint contracture of the hand	OMIM:224400
Congenital Disorder Of Glycosylation, Type Iio	Skeletal muscle atrophy	OMIM:616828
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria	OMIM:617397
Griscelli Syndrome	Hydrocephalus, Encephalocele	ORPHA:381
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Hydrocephalus	ORPHA:2409
Camurati-Engelmann Disease, Type 2	Knee flexion contracture, Skeletal muscle atrophy, Hip contracture	OMIM:606631
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Gray matter heterotopia, Ventriculomegaly, Frontal polymicrogyria, Pachygyria, Neonatal death, Dy...	OMIM:620024
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Hydrocephalus, Ventriculomegaly	OMIM:614195
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Abnormality of B cell physiology, Panhypogammaglobulinemia, Absent peripheral l...	OMIM:600802
Joubert Syndrome 14	Meningocele, Hydrocephalus, Encephalocele, Dandy-Walker malformation	OMIM:614424
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus, Facial paralysis, Facial palsy	OMIM:259700
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:612863
Heme Oxygenase 1 Deficiency	Asplenia, Lymphadenopathy, Cervical lymphadenopathy	OMIM:614034
Radio-Tartaglia Syndrome	Gray matter heterotopia, Tremor, Agenesis of corpus callosum	OMIM:619312
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Death in infancy	ORPHA:1493
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Lymphadenopathy, Splenomegaly	OMIM:619375
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy	OMIM:274240
Pontocerebellar Hypoplasia, Type 1B	Flexion contracture, Skeletal muscle atrophy	OMIM:614678
Fanconi Anemia, Complementation Group B	Hydrocephalus, Ventriculomegaly, Death in infancy	OMIM:300514
Gracile Bone Dysplasia	Hydrocephalus, Death in infancy	OMIM:602361
Kennedy Disease	Skeletal muscle atrophy	ORPHA:481
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Gener...	OMIM:607459
Schwartz-Jampel Syndrome, Type 1	Wrist flexion contracture, Hip contracture, Joint contracture of the hand, Shoulder flexion contr...	OMIM:255800
12Q14 Microdeletion Syndrome	Tremor, Skeletal muscle atrophy, Syringomyelia	ORPHA:94063
Tetrasomy 5P	Aplasia/Hypoplasia of the abdominal wall musculature, Hydrocephalus	ORPHA:3309
Spondylocostal Dysostosis 4, Autosomal Recessive	Spina bifida occulta, Hydrocephalus, Myelomeningocele	OMIM:613686
Desmosterolosis	Ventriculomegaly, Joint contracture of the hand, Hydrocephalus, Partial agenesis of the corpus ca...	OMIM:602398
Amyotrophy, Hereditary Neuralgic	Skeletal muscle atrophy	OMIM:162100
Choreoacanthocytosis	Skeletal muscle atrophy, Progressive choreoathetosis, Dystonia, Limb muscle weakness	OMIM:200150
15Q Overgrowth Syndrome	Hydrocephalus, Dandy-Walker malformation, Syringomyelia, Contracture of the proximal interphalang...	ORPHA:314585
Cole-Carpenter Syndrome 1	Hydrocephalus, Communicating hydrocephalus	OMIM:112240
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:1812
Alg11-Cdg	Gray matter heterotopia, Opisthotonus, Limb hypertonia	ORPHA:280071
Endocrine-Cerebroosteodysplasia	Focal polymicrogyria, Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Agenesis of corpus call...	OMIM:612651
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Wrist flexion contracture, Periventricular heterotopia, Calf muscle hyp...	OMIM:618733
Renpenning Syndrome	Skeletal muscle atrophy	ORPHA:3242
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Skeletal muscle atrophy	OMIM:619759
Immunodeficiency 98 With Autoinflammation, X-Linked	Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Decreased circulating IgG level	OMIM:301078
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Skeletal musc...	ORPHA:368
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Abnormality of the lymphatic system	ORPHA:54251
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Camptodactyly of finger, Knee flexion contracture, Periventricular heterotopia, Multiple joint co...	ORPHA:468631
Melorheostosis	Skeletal muscle atrophy	ORPHA:2485
16P13.2 Microdeletion Syndrome	Dilated third ventricle, Hydrocephalus, Flexion contracture, Ventriculomegaly	ORPHA:500055
Myotonia, Potassium-Aggravated	Skeletal muscle atrophy, Skeletal muscle hypertrophy	OMIM:608390
Systemic-Onset Juvenile Idiopathic Arthritis	Lymphadenopathy, Splenomegaly	ORPHA:85414
Man1B1-Cdg	Periventricular heterotopia, Resting tremor	ORPHA:397941
Multiple Sulfatase Deficiency	Hydrocephalus, Ventriculomegaly, Increased CSF protein concentration	OMIM:272200
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Ventriculomegaly, Choroid plexus cyst	OMIM:617866
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Immunodeficiency 7	Lymphadenopathy, Splenomegaly	OMIM:615387
Autosomal Dominant Cerebellar Ataxia	Postural tremor, Resting tremor, Torticollis, Choreoathetosis, Hand tremor, Tremor, Skeletal musc...	ORPHA:99
Dural Sinus Malformation	Hydrocephalus, Myelopathy	ORPHA:97339
Autosomal Recessive Spastic Paraplegia Type 78	Facial myokymia, Dystonia, Skeletal muscle atrophy	ORPHA:513436
Combined Immunodeficiency Due To Zap70 Deficiency	Abnormal lymph node morphology, Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly	ORPHA:911
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating IgA level, Decreased...	OMIM:606367
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Multiple joint contractures, Joint contracture of the hand, Hydrocephalu...	OMIM:305450
Aicardi Syndrome	Gray matter heterotopia, Dilated third ventricle, Lateral ventricle dilatation, Spina bifida, Cho...	OMIM:304050
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Hydrocephalus	OMIM:616482
Primary Ciliary Dyskinesia	Hydrocephalus, Abnormal sperm motility, Ventriculomegaly	ORPHA:244
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Skeletal muscle atrophy, Foot dorsiflexor weakness	OMIM:616586
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Distal arthrogryposis, Myopathy, Skeletal muscle atrophy	ORPHA:42
Osteopetrosis, Autosomal Recessive 5	Ventriculomegaly, Limb hypertonia, Hydrocephalus, Stillbirth, Facial palsy	OMIM:259720
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Anencephaly, Hydrocephalus, Encephalocele	ORPHA:1335
Deafness, X-Linked 5, With Peripheral Neuropathy	Skeletal muscle atrophy	OMIM:300614
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Skeletal muscle atrophy, Limb joint contracture	OMIM:612079
Cog8-Cdg	Skeletal muscle atrophy, Ventriculomegaly	ORPHA:95428
Icf Syndrome	Communicating hydrocephalus, Macroglossia	ORPHA:2268
Facioscapulohumeral Dystrophy	Skeletal muscle atrophy	ORPHA:269
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Knee flexion contracture, Gray matter heterotopia, Flexion contracture, Hip contracture, Colpocep...	OMIM:210710
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Periventricular heterotopia, Ventriculomegaly	OMIM:618870
Sialidosis Type 1	Tremor, Skeletal muscle atrophy	ORPHA:812
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Van Maldergem Syndrome 1	Gray matter heterotopia, Simplified gyral pattern, Camptodactyly, Periventricular nodular heterot...	OMIM:601390
Fg Syndrome Type 1	Progressive flexion contractures, Hydrocephalus, Ventriculomegaly	ORPHA:93932
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus	OMIM:614886
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Camptodactyly, Hydrocephalus, Flexion contracture	OMIM:207410
Full Nf2-Related Schwannomatosis	Wrist drop, Hydrocephalus, Spinal cord tumor, Foot dorsiflexor weakness, Myelopathy, Facial palsy	ORPHA:637
Immunodeficiency, Common Variable, 8, With Autoimmunity	Splenomegaly, Decreased circulating total IgM, Generalized lymphadenopathy, Lymphadenopathy, Decr...	OMIM:614700
Rhizomelic Chondrodysplasia Punctata, Type 5	Contractures of the large joints, Skeletal muscle atrophy	OMIM:616716
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Encephalocele, Ventriculomegaly, Choroid plexus cyst, Periventricular no...	OMIM:603671
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Neonatal death, Polymicrogyria	OMIM:614887
Sandhoff Disease	Skeletal muscle atrophy, Exaggerated startle response, Death in childhood, Macroglossia	OMIM:268800
Niemann-Pick Disease, Type A	Athetosis, Skeletal muscle atrophy	OMIM:257200
Alexander Disease	Aqueductal stenosis, Hydrocephalus, Tremor, Agenesis of corpus callosum, Facial palsy	ORPHA:58
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Embryonal rhabdomyosarcoma, Dandy-W...	OMIM:257300
Whipple Disease	Myositis, Hydrocephalus	ORPHA:3452
Mucopolysaccharidosis, Type Vii	Hydrocephalus, Flexion contracture, Macroglossia	OMIM:253220
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Athetosis, Hydrocephalus	OMIM:239300
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Camptodactyly of finger, Hydrocephalus	OMIM:619951
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Ventriculomegaly, Type 2 muscle fiber predominance, Choreoathetosis, Skeletal muscle atrophy, Dys...	OMIM:615471
Hydrolethalus Syndrome 1	Gray matter heterotopia, Abnormal cortical gyration, Arrhinencephaly, Anencephaly, Dandy-Walker m...	OMIM:236680
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Ventriculomegaly, Camptodactyly, Dysplastic corpus callosum, Agenesis of...	ORPHA:314679
Autosomal Dominant Optic Atrophy, Classic Form	Scapular winging, Myopathy, Skeletal muscle atrophy, Weakness of facial musculature	ORPHA:98673
Limb Body Wall Complex	Diastasis recti, Encephalocele, Myelomeningocele, Spina bifida, Abnormal spinal cord morphology, ...	ORPHA:2369
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Flexion contracture, Skeletal muscle atrophy, Limb hypertonia, Agenesis of corpus callosum	ORPHA:481152
Deafness, Congenital, With Vitiligo And Achalasia	Skeletal muscle atrophy	OMIM:221350
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Myopathy With Lactic Acidosis, Hereditary	Increased variability in muscle fiber diameter, Rhabdomyolysis, Increased intramyocellular lipid ...	OMIM:255125
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Increased circulating IgA level, Increased circulating IgM level	OMIM:617099
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:613001
Flynn-Aird Syndrome	Skeletal muscle atrophy	ORPHA:2047
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:3301
Combined Oxidative Phosphorylation Defect Type 7	Lower limb muscle weakness, Facial diplegia, Skeletal muscle atrophy, Distal amyotrophy, Upper li...	ORPHA:254930
Bohring-Opitz Syndrome	Gray matter heterotopia, Flexion contracture, Agenesis of corpus callosum, Camptodactyly, Dandy-W...	OMIM:605039
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Anencephaly, Hydrocephalus	OMIM:313850
Leigh Syndrome	Multiple joint contractures, Choreoathetosis, Myopathy, Skeletal muscle atrophy, Gliosis, Increas...	ORPHA:506
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Skeletal muscle atrophy	OMIM:618862
Hurler Syndrome	Camptodactyly of finger, Hydrocephalus, Macroglossia, Death in infancy	ORPHA:93473
Marshall-Smith Syndrome	Ventriculomegaly, Macrogyria, Hydrocephalus, Cervical cord compression, Pachygyria, Death in chil...	OMIM:602535
Desmoplastic Small Round Cell Tumor	Lymphadenopathy, Mediastinal lymphadenopathy	ORPHA:83469
Nephroblastoma	Lymphadenopathy	ORPHA:654
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Triosephosphate Isomerase Deficiency	Death in infancy, Tremor, Myopathy, Skeletal muscle atrophy, Death in adolescence, Dystonia	OMIM:615512
Fetal Akinesia Deformation Sequence 1	Camptodactyly of finger, Wrist flexion contracture, Decreased muscle mass, Hip contracture, Gener...	OMIM:208150
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Myopathy, Skeletal muscle atrophy	ORPHA:85329
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Flexion contracture, Skeletal muscle atrophy	ORPHA:75496
Poliomyelitis	Myelitis, Abnormal skeletal muscle morphology, Lower limb muscle weakness, Hypoplasia of the musc...	ORPHA:2912
Vacterl With Hydrocephalus	Spina bifida, Arrhinencephaly, Hydrocephalus, Aqueductal stenosis	ORPHA:3412
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Macroglossia, Subependymal cysts, Death in childhood, Polymicrogyria	OMIM:214100
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Raine Syndrome	Neonatal death, Hydrocephalus, Arthrogryposis multiplex congenita, Death in infancy	OMIM:259775
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Flexion contracture, Ventriculomegaly, Generalized amyotrophy, Postural tremor, Skeletal muscle a...	OMIM:301072
Proteus-Like Syndrome	Hydrocephalus, Communicating hydrocephalus	ORPHA:2969
Hurler Syndrome	Hydrocephalus, Flexion contracture, Macroglossia	OMIM:607014
Proximal Spinal Muscular Atrophy	Knee flexion contracture, Flexion contracture, Multiple joint contractures, Triceps weakness, Elb...	ORPHA:70
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Apert Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:87
Microcephaly 29, Primary, Autosomal Recessive	Hyperactivity, Emotional lability	OMIM:620047
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Achondroplasia	Hydrocephalus	ORPHA:15
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy	ORPHA:1486
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Ventriculomegaly	OMIM:617563
Hyper-Igd Syndrome	Lymphadenitis, Increased circulating IgD level, Hepatosplenomegaly, Lymphadenopathy, Increased ci...	OMIM:260920
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Abnormal muscle fiber morphology, Skeletal muscle atrophy, Facial palsy	ORPHA:3068
Split Cord Malformation	Meningocele, Myelomeningocele, Hydromyelia, Spinal cord tumor, Hydrocephalus, Syringomyelia, Teth...	ORPHA:573278
47,Xyy Syndrome	Hydrocephalus	ORPHA:8
Carey-Fineman-Ziter Syndrome	Ventriculomegaly, Aplasia of the pectoralis major muscle, Myopathy, Skeletal muscle atrophy, Faci...	ORPHA:1358
Adams-Oliver Syndrome	Hydrocephalus, Encephalocele	ORPHA:974
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Congenital Sialidosis Type 2	Hydrocephalus	ORPHA:93400
Autosomal Recessive Ataxia, Beauce Type	Arm dystonia, Skeletal muscle atrophy, Lower limb muscle weakness	ORPHA:88644
Leukodystrophy, Hypomyelinating, 10	Skeletal muscle atrophy	OMIM:616420
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Increased CSF methionine concentration	OMIM:614300
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita	OMIM:607598
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Death in childhood, Lateral ventricle dilatation, Death in infancy	OMIM:612301
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Ventriculomegaly, Gliosis	OMIM:617193
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Arthrogryposis multiplex congenita	OMIM:232500
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Neuraminidase Deficiency	Skeletal muscle atrophy	OMIM:256550
Mucopolysaccharidosis, Type Vi	Hydrocephalus, Flexion contracture, Macroglossia, Cervical myelopathy	OMIM:253200
Combined Oxidative Phosphorylation Deficiency 7	Facial diplegia, Skeletal muscle atrophy, Facial paralysis	OMIM:613559
7Q11.23 Microduplication Syndrome	Simplified gyral pattern, Congenital diaphragmatic hernia, Hydrocephalus, Ventriculomegaly	ORPHA:96121
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enlarged sylvian cistern, Skeletal muscle atrophy, Agenesis of corpus callosum	OMIM:615802
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Elbow flexion contracture, Hydrocephalus, Left ventricular hyper...	OMIM:245600
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:123790
X-Linked Lymphoproliferative Disease	Decreased circulating total IgM, Decreased circulating antibody level, Enlarged tonsils, Dysgamma...	ORPHA:2442
Achondroplasia	Hydrocephalus, Death in infancy	OMIM:100800
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Bilateral Perisylvian Polymicrogyria	Distal arthrogryposis, Flexion contracture, Abnormality of neuronal migration, Perisylvian predom...	ORPHA:98889
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Flexion contracture	OMIM:616007
Cousin Syndrome	Wrist flexion contracture, Joint contracture of the hand, Hydrocephalus, Camptodactyly, Hydranenc...	OMIM:260660
Proteasome-Associated Autoinflammatory Syndrome 4	Lymphadenopathy, Splenomegaly	OMIM:619183
Spondyloepimetaphyseal Dysplasia, Krakow Type	Knee flexion contracture, Hydrocephalus, Elbow contracture	OMIM:618162
Pfeiffer Syndrome Type 2	Hydrocephalus, Aqueductal stenosis	ORPHA:93259
Synaptic Congenital Myasthenic Syndromes	Type 1 muscle fiber predominance, Myopathy, Skeletal muscle atrophy, Type 2 muscle fiber atrophy,...	ORPHA:98915
Autosomal Recessive Spastic Paraplegia Type 55	Tibialis muscle weakness, Lower limb muscle weakness, Skeletal muscle atrophy, Foot dorsiflexor w...	ORPHA:320375
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Hydrocephalus, Agenesis of corpus callosum, Colpocephaly	OMIM:309801
Carey-Fineman-Ziter Syndrome 1	Flexion contracture, Ventriculomegaly, Pectoralis hypoplasia, Hypoplasia of the musculature, Weak...	OMIM:254940
X-Linked Intellectual Disability, Seemanova Type	Skeletal muscle atrophy, Hypoplasia of the musculature	ORPHA:85323
Short-Rib Thoracic Dysplasia 12	Anencephaly, Holoprosencephaly, Neonatal death, Hydrocephalus	OMIM:269860
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Hydrocephalus, Camptodactyly, Spina bifida occulta, Partial agenes...	OMIM:300373
Fraser Syndrome 3	Hydrocephalus, Stillbirth	OMIM:617667
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Facial hypotonia, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:457284
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Joint contracture of the hand, Agyria, Camptodactyly, Lissencephaly, Pac...	OMIM:247200
Rett Syndrome	Increased CSF lactate, Dystonia, Skeletal muscle atrophy	ORPHA:778
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Joubert Syndrome 2	Hydrocephalus, Encephalocele, Enlarged fossa interpeduncularis	OMIM:608091
Mucopolysaccharidosis Type 1	Hydrocephalus, Abnormal tendon morphology	ORPHA:579
Autosomal Recessive Multiple Pterygium Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Spina bifida occul...	ORPHA:2990
Orofaciodigital Syndrome I	Gray matter heterotopia, Myelomeningocele, Abnormal cortical gyration, Hydrocephalus, Agenesis of...	OMIM:311200
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Hydrocephalus	OMIM:612284
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy	ORPHA:156
Neurofibromatosis, Type I	Spina bifida, Hydrocephalus, Aqueductal stenosis, Rhabdomyosarcoma	OMIM:162200
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus	ORPHA:1555
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial palsy	OMIM:617143
Adenylosuccinase Deficiency	Opisthotonus, Skeletal muscle atrophy	OMIM:103050
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Hereditary Folate Malabsorption	Skeletal muscle atrophy, Eosinophilia	ORPHA:90045
Monosomy 18Q	Choreoathetosis, Hydrocephalus	ORPHA:1600
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness	OMIM:112250
Oculogastrointestinal Muscular Dystrophy	Myopathy, Skeletal muscle atrophy	ORPHA:1876
Holoprosencephaly 7	Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly, Ho...	OMIM:610828
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus callosum, Arthrogryposis multi...	OMIM:619512
Borjeson-Forssman-Lehmann Syndrome	Camptodactyly of toe, Skeletal muscle atrophy	ORPHA:127
Rett Syndrome	Dystonia, Skeletal muscle atrophy	OMIM:312750
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Postpoliomyelitis Syndrome	Skeletal muscle atrophy	ORPHA:2942
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Macroglossia, Syringomyelia	ORPHA:453499
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Impaired oxidative burst, Lymphadenopathy, Splenomegaly, Lymphadenitis	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Impaired oxidative burst, Lymphadenopathy, Splenomegaly, Lymphadenitis	OMIM:233710
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus, Camptodactyly, Joint contracture of the hand	OMIM:182212
Castleman Disease	Lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Mediastinal lymphadenopathy	ORPHA:160
Koolen-De Vries Syndrome	Gray matter heterotopia, Hypotrophy of the small hand muscles, Ventriculomegaly	OMIM:610443
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Tremor, Hydrocephalus	OMIM:277400
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level, Lymphadenopathy, Splenomegaly	OMIM:617591
Combined Oxidative Phosphorylation Deficiency 55	Type 2 muscle fiber predominance, Myopathy, Skeletal muscle atrophy, Ventriculomegaly	OMIM:619743
Genitourinary And/Or Brain Malformation Syndrome	Gray matter heterotopia, Colpocephaly, Holoprosencephaly, Dysplastic corpus callosum, Agenesis of...	OMIM:618820
Mirage Syndrome	Hydrocephalus	OMIM:617053
Becker Muscular Dystrophy	Skeletal muscle atrophy	ORPHA:98895
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Flexion contracture, Rhabdomyolysis, Choreoatheto...	ORPHA:17
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618929
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:613603
Monosomy 9Q22.3	Hydrocephalus, Ventriculomegaly, Rhabdomyosarcoma	ORPHA:77301
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Hydrocephalus, Encephalocele, Myelomeningocele	ORPHA:90652
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Camptodactyly, Ventriculomegaly	ORPHA:1272
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:250989
H Syndrome	Hydrocephalus, Camptodactyly	ORPHA:168569
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Abnormality of the musculature of the limbs	ORPHA:137667
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Impaired oxidative burst, Lymphadenopathy, Splenomegaly, Lymphadenitis	OMIM:233690
Multiple Myeloma	Decreased circulating antibody level, Lymphadenopathy, Increased circulating IgA level, Increased...	ORPHA:29073
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Hydrocephalus, Aqueductal stenosis, Polymicrogyria	OMIM:154400
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:85450
Glycogen Storage Disease Of Heart, Lethal Congenital	Myopathy, Hydrocephalus, Macroglossia	OMIM:261740
Tick-Borne Encephalitis	Myelitis, CSF pleocytosis, Tremor, Skeletal muscle atrophy, Facial palsy	ORPHA:297
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus, Flexion contracture, Macroglossia	ORPHA:505248
Cardiofaciocutaneous Syndrome 1	Hydrocephalus	OMIM:115150
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Jacobsen Syndrome	Holoprosencephaly, Hydrocephalus, Flexion contracture	OMIM:147791
Omenn Syndrome	Lymphadenopathy, Hypoplasia of the thymus, Splenomegaly	OMIM:603554
Apert Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:101200
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus, Atrophy of the spinal cord	ORPHA:79282
Spinocerebellar Ataxia 36	Skeletal muscle atrophy	OMIM:614153
Autoimmune Lymphoproliferative Syndrome	Decreased circulating total IgM, Increased circulating antibody level, Hypersplenism, Increased c...	ORPHA:3261
Multiple Pterygium-Malignant Hyperthermia Syndrome	Camptodactyly of finger, Congenital muscular torticollis, Skeletal muscle atrophy, Arthrogryposis...	ORPHA:2215
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Torticollis, Hydrocephalus, Multiple joint contractures	ORPHA:536467
Basal Cell Nevus Syndrome 1	Spina bifida, Hydrocephalus	OMIM:109400
Orofaciodigital Syndrome Type 6	Tremor, Abnormality of neuronal migration	ORPHA:2754
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia, Ventriculomegaly, Colpocephaly	ORPHA:261250
3P25.3 Microdeletion Syndrome	Knee flexion contracture, Skeletal muscle atrophy	ORPHA:435638
Tetrasomy 9P	Abnormal spinal cord morphology, Hydrocephalus, Lissencephaly, Myositis, Pachygyria, Dandy-Walker...	ORPHA:3310
Koolen-De Vries Syndrome Due To A Point Mutation	Ventriculomegaly, Hand muscle atrophy, Spina bifida, Hydrocephalus, Agenesis of corpus callosum, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Ventriculomegaly, Hand muscle atrophy, Spina bifida, Hydrocephalus, Agenesis of corpus callosum, ...	ORPHA:363958
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Dilated third ventricle, Hydrocephalus, Lateral ventricle dilatation	OMIM:619575
Shprintzen-Goldberg Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Communicating hydr...	ORPHA:2462
Holoprosencephaly 9	Holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Abnormal cortical gyra...	OMIM:610829
6Q Terminal Deletion Syndrome	Gray matter heterotopia, Periventricular heterotopia, Abnormality of neuronal migration, Polymicr...	ORPHA:75857
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Cerebrooculonasal Syndrome	Hydrocephalus, Encephalocele, Ventriculomegaly, Dandy-Walker malformation	OMIM:605627
Frontometaphyseal Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Elbow flexion contr...	OMIM:305620
Dextrocardia	Hydrocephalus	ORPHA:1666
Mohr Syndrome	Hydrocephalus	OMIM:252100
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus	OMIM:101800
Unilateral Polymicrogyria	Abnormal posturing, Perisylvian polymicrogyria	ORPHA:268943
Refsum Disease	Skeletal muscle atrophy	ORPHA:773
Mucopolysaccharidosis Type 3	Hydrocephalus, Flexion contracture, Macroglossia, Ventriculomegaly	ORPHA:581
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy	ORPHA:168563
Van Maldergem Syndrome 2	Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia	OMIM:615546
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Skeletal muscle atrophy	OMIM:620089
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Abnormality of neuronal migration, Ankle flexion contracture, Vent...	ORPHA:464311
Cardiofaciocutaneous Syndrome	Hydrocephalus	ORPHA:1340
Trisomy 8P	Dandy-Walker malformation, Hydrocephalus, Multiple joint contractures, Agenesis of corpus callosum	ORPHA:264450
Fontaine Progeroid Syndrome	Gray matter heterotopia, Periventricular heterotopia, Death in infancy, Hydrocephalus, Left ventr...	OMIM:612289
Werner Syndrome	Skeletal muscle atrophy, Miscarriage	ORPHA:902
Dubowitz Syndrome	Spina bifida occulta, Hydrocephalus	ORPHA:235
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy	OMIM:614856
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Duane Retraction Syndrome	Spina bifida occulta, Skeletal muscle atrophy, Camptodactyly, Blepharospasm	ORPHA:233
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Dystonia, Skeletal muscle atrophy, Arthrogryposis multiplex congenita	ORPHA:496641
Donohue Syndrome	Skeletal muscle atrophy	OMIM:246200
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Ruijs-Aalfs Syndrome	Elbow flexion contracture, Skeletal muscle atrophy	OMIM:616200
Coccidioidomycosis	Hypoglycorrhachia, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Eosinophilia, In...	ORPHA:228123
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Flexion contracture, Skeletal muscle atrophy	OMIM:300232
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Limb-girdle muscle weakness, Skeletal muscle atrophy, Rhabdomyolysis, Pelvic girdle muscle weakness	ORPHA:79240
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Holoprosencephaly, Abnormality of neuronal migration	ORPHA:3186
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Limb-girdle muscle weakness, Skeletal muscle atrophy, Rhabdomyolysis, Increased sarcoplasmic glyc...	ORPHA:370
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Elbow flexion contracture, Hydrocephalus, Camptodactyly, Stillbirth	ORPHA:95699
Gaucher Disease	Ventriculomegaly, Death in infancy, Hydrocephalus, Tremor, Arthrogryposis multiplex congenita	ORPHA:355
Meckel Syndrome, Type 1	Camptodactyly of finger, Dilated fourth ventricle, Ventriculomegaly, Anencephaly, Hydrocephalus, ...	OMIM:249000
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Skeletal muscle atrophy	OMIM:615934
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Cryptococcosis	Hydrocephalus, Limb muscle weakness	ORPHA:1546
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventriculomegaly, Torticollis, Hydrocephalus, Intention tremor, Decreased CSF 5-methyltetrahydrof...	OMIM:619475
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Flexion contracture, Skeletal muscle atrophy	OMIM:300243
Kabuki Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Ventriculomegaly	ORPHA:2322
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Abnormality of neuronal migration, Rhabdomyosarcoma	ORPHA:647
Smith-Lemli-Opitz Syndrome	Periventricular heterotopia, Death in infancy, Hydrocephalus, Holoprosencephaly, Partial agenesis...	OMIM:270400
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Autosomal Recessive Spastic Paraplegia Type 9B	Skeletal muscle atrophy, Postural tremor	ORPHA:447760
Tbck-Related Intellectual Disability Syndrome	Diastasis recti, Skeletal muscle atrophy, Macroglossia, Ventriculomegaly	ORPHA:488632
Holoprosencephaly-Postaxial Polydactyly Syndrome	Holoprosencephaly, Hydrocephalus, Encephalocele	ORPHA:2166
Moebius Syndrome	Death in infancy, Aplasia of the pectoralis major muscle, Skeletal muscle atrophy, Arthrogryposis...	ORPHA:570
Hajdu-Cheney Syndrome	Hydrocephalus, Syringomyelia	ORPHA:955
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE...	ORPHA:449432
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Death in infancy	OMIM:608779
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum, Rhabdomyosarcoma	OMIM:276300
Bardet-Biedl Syndrome	Skeletal muscle atrophy	ORPHA:110
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation, Limb hypertonia	ORPHA:401973
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Agenesis of corpus callosum	OMIM:227646
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Increased intramyocellular lipid droplets, Skeletal muscle atrophy, Increased C...	OMIM:252010
Microphthalmia With Limb Anomalies	Arrhinencephaly, Hydrocephalus, Camptodactyly of 2nd-5th fingers, Death in infancy	ORPHA:1106
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy	OMIM:219080
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Opisthotonus, Skeletal muscle atrophy	OMIM:210210
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Agenesis of corpus callosum, Facial palsy	ORPHA:2658
Alobar Holoprosencephaly	Flexion contracture, Neural tube defect, Limb dystonia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Flexion contracture, Neural tube defect, Limb dystonia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:93926
Lobar Holoprosencephaly	Flexion contracture, Neural tube defect, Limb dystonia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:93924
Semilobar Holoprosencephaly	Flexion contracture, Neural tube defect, Limb dystonia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:220386
Alpha-Mannosidosis, Infantile Form	Myopathy, Facial hypotonia, Communicating hydrocephalus, Macroglossia	ORPHA:309282
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly	OMIM:618188
Distal 22Q11.2 Microduplication Syndrome	Camptodactyly of finger, Hydrocephalus, Camptodactyly of toe, Macroglossia	ORPHA:261337
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Decreased circulating antibody level	ORPHA:1572
Schwartz-Jampel Syndrome	Wrist flexion contracture, Blepharospasm, Hip contracture, Death in infancy, Shoulder flexion con...	ORPHA:800
Mucopolysaccharidosis Type 2	Flexion contracture of digit, Contractures of the large joints, Communicating hydrocephalus, Macr...	ORPHA:580
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Histiocytoid Cardiomyopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:137675
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Ventriculomegaly, Hydrocephalus, Tethered cord, Agenesis of corpus callosum	OMIM:194190
Osteogenesis Imperfecta	Noncommunicating hydrocephalus, Flexion contracture, Ventriculomegaly, Hydrocephalus, Syringomyelia	ORPHA:666
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Graft Versus Host Disease	Myositis, Skeletal muscle atrophy, Dupuytren contracture	ORPHA:39812
Localized Scleroderma	Myopathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:90289
Campomelic Dysplasia	Spina bifida, Contracture of the distal interphalangeal joint of the fingers, Spinal dysraphism, ...	OMIM:114290
Arima Syndrome	Occipital meningocele, Dilated fourth ventricle, Gray matter heterotopia	OMIM:243910
Oeis Complex	Hydrocephalus, Tethered cord, Myelomeningocele	OMIM:258040
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Type 1 muscle fiber atrophy, Macroglossia, Agenesis of corpus callosum	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Type 1 muscle fiber atrophy, Macroglossia, Agenesis of corpus callosum	ORPHA:352665
Autosomal Recessive Spastic Paraplegia Type 20	Distal amyotrophy, Upper limb muscle weakness, Skeletal muscle atrophy	ORPHA:101000
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Myopathy, Hydrocephalus, Flexion contracture, Hip contracture	ORPHA:3042
Meningioma	Hydrocephalus, Upper limb muscle weakness, Lower limb muscle weakness, Facial palsy	ORPHA:2495
Hereditary Cryohydrocytosis With Reduced Stomatin	Hypoglycorrhachia, Communicating hydrocephalus	ORPHA:168577
Meckel Syndrome	Encephalocele, Anencephaly, Hydrocephalus, Lobar holoprosencephaly, Dandy-Walker malformation	ORPHA:564
Native American Myopathy	Muscle fiber atrophy, Abnormality of skeletal muscle fiber size, Camptodactyly, Skeletal muscle a...	ORPHA:168572
22Q11.2 Deletion Syndrome	Meningocele, Spina bifida, Arrhinencephaly, Hydrocephalus, Occipital myelomeningocele	ORPHA:567
Granulomatous Disease, Chronic, X-Linked	Impaired oxidative burst, Lymphadenopathy, Splenomegaly, Lymphadenitis	OMIM:306400
Pseudoaminopterin Syndrome	Hydrocephalus, Posterolateral diaphragmatic hernia	ORPHA:221120
Farber Disease	Flexion contracture, Skeletal muscle atrophy	ORPHA:333
Fanconi Anemia	Spina bifida, Hydrocephalus, Ventriculomegaly	ORPHA:84
Craniopharyngioma	Hydrocephalus	ORPHA:54595
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2556
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Generalized amyotrophy, Agenesis of corpus callosum, Hydrocephalus, Intentio...	OMIM:264090
Orofaciodigital Syndrome Xiv	Periventricular heterotopia, Simplified gyral pattern, Holoprosencephaly, Partial agenesis of the...	OMIM:615948
Arthrogryposis And Ectodermal Dysplasia	Skeletal muscle atrophy, Camptodactyly, Arthrogryposis multiplex congenita, Joint contracture of ...	OMIM:601701
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Hydrocephalus	OMIM:273395
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Increased sarcoplasmic glycogen	ORPHA:264580
Cockayne Syndrome A	Tremor, Hip contracture, Normal pressure hydrocephalus, Ventriculomegaly	OMIM:216400
Costello Syndrome	Ventriculomegaly, Achilles tendon contracture, Hydrocephalus, Macroglossia, Rhabdomyosarcoma	OMIM:218040
Malt Lymphoma	Lymphadenopathy, Mediastinal lymphadenopathy	ORPHA:52417
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Lateral ventricle dilatation, Hydrocephalus, Camptodactyly, Pachygyria, ...	OMIM:607872
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus	ORPHA:163979
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Wiedemann-Rautenstrauch Syndrome	Camptodactyly of finger, Limb hypertonia, Hydrocephalus, Tremor, Skeletal muscle hypertrophy, Act...	ORPHA:3455
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Generalized lymphadenopathy, Lymphadenopathy, Cervical lymphadeno...	ORPHA:50918
Autosomal Recessive Malignant Osteopetrosis	Tremor, Hydrocephalus	ORPHA:667
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy	OMIM:219090
Multiple System Atrophy 1, Susceptibility To	Tremor, Skeletal muscle atrophy	OMIM:146500
Focal Dermal Hypoplasia	Diastasis recti, Myelomeningocele, Hydrocephalus, Spina bifida occulta, Congenital diaphragmatic ...	OMIM:305600
Chilton-Okur-Chung Neurodevelopmental Syndrome	Limb hypertonia, Mild fetal ventriculomegaly, Communicating hydrocephalus, Aplasia of the right h...	OMIM:619841
Cockayne Syndrome B	Tremor, Death in childhood, Normal pressure hydrocephalus	OMIM:133540
Bannayan-Riley-Ruvalcaba Syndrome	Myopathy, Skeletal muscle atrophy	ORPHA:109
Baller-Gerold Syndrome	Spina bifida occulta, Hydrocephalus, Agenesis of corpus callosum, Polymicrogyria	OMIM:218600
Marfan Syndrome	Meningocele, Skeletal muscle atrophy, Dural ectasia	ORPHA:558
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Facial hypotonia, Communicating hydrocephalus, Ventriculomegaly	ORPHA:457359
Loeys-Dietz Syndrome 2	Hydrocephalus, Camptodactyly, Joint contracture of the hand, Dural ectasia	OMIM:610168
Hajdu-Cheney Syndrome	Hydrocephalus	OMIM:102500
Yunis-Varon Syndrome	Arrhinencephaly, Pachygyria, Hydrocephalus, Agenesis of corpus callosum	ORPHA:3472
Fraser Syndrome 1	Hydrocephalus, Encephalocele, Abnormal cortical gyration, Myelomeningocele	OMIM:219000
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Flexion contracture	OMIM:619321
Otopalatodigital Syndrome, Type Ii	Spina bifida, Hydrocephalus, Elbow contracture, Stillbirth	OMIM:304120
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly	OMIM:617011
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy	OMIM:615895
Heterotaxy, Visceral, 1, X-Linked	Hydrocephalus, Myelomeningocele, Aqueductal stenosis	OMIM:306955
Cockayne Syndrome Type 3	Astrocytosis, Flexion contracture, Skeletal muscle atrophy, Intention tremor	ORPHA:90324
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Dystonia, Skeletal muscle atrophy	OMIM:256810
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Steinert Myotonic Dystrophy	Abnormality of masticatory muscle, Mild fetal ventriculomegaly, Pelvic girdle muscle weakness, Fa...	ORPHA:273
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Myopathy, Skeletal muscle atrophy, Type 1 muscle fiber predominance	OMIM:614557
Loeys-Dietz Syndrome 1	Hydrocephalus, Camptodactyly	OMIM:609192
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Flexion contracture, Skeletal muscle atrophy	ORPHA:89842
Cockayne Syndrome	Contractures of the large joints, Limb hypertonia, Skeletal muscle atrophy, Gliosis, Action tremo...	ORPHA:191
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2072
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Limb dystonia, Hydrocephalus, Dystonia, Facial paralysis	OMIM:175780
Simpson-Golabi-Behmel Syndrome, Type 1	Diastasis recti, Hydrocephalus, Macroglossia, Congenital diaphragmatic hernia, Facial hypotonia, ...	OMIM:312870
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Flexion contracture, Camptodactyly, Ventriculomegaly	OMIM:309590
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Eosinophilia	ORPHA:3260
Townes-Brocks Syndrome 1	Holoprosencephaly, Hydrocephalus, Tethered cord	OMIM:107480
Proteasome-Associated Autoinflammatory Syndrome 1	Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Macroglossia, Flexion co...	OMIM:256040
Peters-Plus Syndrome	Hydrocephalus, Diastasis recti, Agenesis of corpus callosum, Ventriculomegaly	OMIM:261540
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Dilated third ventricle, Periventricular heterotopia, Partial agenesis ...	ORPHA:434179
Exstrophy-Epispadias Complex	Spina bifida, Hydrocephalus	ORPHA:322
Neurofibromatosis Type 1	Hydrocephalus	ORPHA:636
Peters Plus Syndrome	Spina bifida occulta, Hydrocephalus, Ventriculomegaly	ORPHA:709
Roberts-Sc Phocomelia Syndrome	Knee flexion contracture, Wrist flexion contracture, Elbow flexion contracture, Hydrocephalus, St...	OMIM:268300
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy	ORPHA:1969
Kyphoscoliotic Ehlers-Danlos Syndrome	Myopathy, Skeletal muscle atrophy	ORPHA:536545
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hydrocephalus, Neonatal death, Aqueductal stenosis, Lateral ventricle dilatation	OMIM:619534
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Tuberous Sclerosis Complex	Subependymal nodules, Noncommunicating hydrocephalus	ORPHA:805
Genitopatellar Syndrome	Knee flexion contracture, Hip contracture, Periventricular heterotopia, Pachygyria, Agenesis of c...	OMIM:606170
Immunodeficiency 31C	Skeletal muscle atrophy	OMIM:614162
Camurati-Engelmann Disease	Skeletal muscle atrophy	OMIM:131300
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Coffin-Siris Syndrome 12	Noncommunicating hydrocephalus, Facial palsy	OMIM:619325
Pierson Syndrome	Skeletal muscle atrophy, Death in childhood	OMIM:609049
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus	ORPHA:363700
Proteus Syndrome	Myofibrillar myopathy, Gray matter heterotopia, Decreased muscle mass	ORPHA:744
Lysinuric Protein Intolerance	Skeletal muscle atrophy	OMIM:222700
Cystinosis, Nephropathic	Myopathy, Skeletal muscle atrophy	OMIM:219800
Atypical Werner Syndrome	Skeletal muscle atrophy, Abnormality of the Achilles tendon, Calf muscle hypertrophy	ORPHA:79474
Camurati-Engelmann Disease	Skeletal muscle atrophy, Facial palsy	ORPHA:1328
Leprosy	Skeletal muscle atrophy, Foot dorsiflexor weakness	ORPHA:548
Stickler Syndrome	Skeletal muscle atrophy, Macroglossia	ORPHA:828
Sarcoidosis	Abnormal lymph node morphology, Lymphadenopathy	ORPHA:797
Craniofacial Microsomia	Hypoplasia of facial musculature, Occipital encephalocele, Hydrocephalus, Agenesis of corpus call...	OMIM:164210
Leprechaunism	Skeletal muscle atrophy	ORPHA:508
Primrose Syndrome	Knee flexion contracture, Flexion contracture, Hip contracture, Ventriculomegaly, Skeletal muscle...	OMIM:259050
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Flexion contracture, Periventricular heterotopia, Lateral ventricle dilatation, Camptodactyly, Ag...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Flexion contracture, Periventricular heterotopia, Lateral ventricle dilatation, Camptodactyly, Hy...	ORPHA:261552
Mowat-Wilson Syndrome	Flexion contracture, Periventricular heterotopia, Ventriculomegaly, Camptodactyly, Agenesis of co...	ORPHA:2152
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Neoplasm of the thymus	ORPHA:99889
Pontocerebellar Hypoplasia Type 7	Skeletal muscle atrophy	ORPHA:284339

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for B4gat1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to B4gat1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Dystroglycan organizes axon guidance cue localization and axonal pathfinding.	Neuron (December 2012)	B4gat1^{tm1(KOMP)Vlcg}	PMC3526105

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MGI Allele	Allele Type	Produced
B4gat1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
B4gat1^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue
B4gat1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
B4gat1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells

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Gene: B4gat1 MGI:1919680

Gene Summary

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Phenotypes

lacZ Expression

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Embryo LacZ

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Human diseases caused by B4gat1 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data