Gene Summary

Name:
notch 3
Synonyms:
hpbk,  N3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased spleen weight Notch3tm1.1(KOMP)Vlcg HOM   Early adult 6.04×10-05
enlarged heart Notch3tm1.1(KOMP)Vlcg HOM Early adult 0.00
improved glucose tolerance Notch3tm1.1(KOMP)Vlcg HOM Early adult 1.66×10-11
decreased liver weight Notch3tm1.1(KOMP)Vlcg HOM   Early adult 1.95×10-06
decreased prepulse inhibition Notch3tm1.1(KOMP)Vlcg HOM   Early adult 4.92×10-05
increased neutrophil cell number Notch3tm1.1(KOMP)Vlcg HOM Early adult 3.13×10-06
increased red blood cell distribution width Notch3tm1.1(KOMP)Vlcg HOM Early adult 6.11×10-05
abnormal kidney morphology Notch3tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal heart morphology Notch3tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged kidney Notch3tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Bone marrow  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 50% (1 of 2)
Diaphragm  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Gonadal fat pad  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Sciatic nerve  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 0.0% (0 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  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 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
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 Not available
Large intestine N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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%
No Embryo expression data was found for this gene.

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

84 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Notch3 mutations

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

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

The table below shows human diseases associated to Notch3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lateral Meningocele Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2789
Lateral Meningocele Syndrome
Conductive hearing impairment, Abnormality of the middle ear ossicles, Kyphosis, Cryptorchidism, ... OMIM:130720
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Hemiplegia, Bradyphrenia, Apathy, Cognitive impairment, Anxiety, Parkinsonism, Memory impairment,... ORPHA:136
Infantile Myofibromatosis
Bone cyst, Osteolysis, Limitation of joint mobility ORPHA:2591
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Pseudobulbar paralysis, Hemiparesis, Memory impairment, Subcortical dementia, Gait disturbance, A... OMIM:125310
Myofibromatosis, Infantile, 2
OMIM:615293

The table below shows human diseases predicted to be associated to Notch3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Immunodeficiency 40
Lymphopenia OMIM:616433
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Miyoshi Myopathy
Triceps weakness, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Quadriceps mu... ORPHA:45448
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Type II diabetes mellitus, Hepatomegaly, Splenome... OMIM:616860
Charcot-Marie-Tooth Disease, Axonal, Type 2D
First dorsal interossei muscle atrophy, Scoliosis, Distal amyotrophy, Thenar muscle atrophy, Uppe... OMIM:601472
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Facial palsy, Lumbar hyperlordosis, Myopathy OMIM:253320
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... OMIM:609115
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscle... OMIM:608099
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Sensorineural hearing impairment, Vaginal fistula, Skeletal muscle atrophy, Myopathy ORPHA:2597
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Myopathy, Generalized amyotrophy OMIM:618323
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Trapezius muscle aplasia, Hydrocephalus, Abnormality of the ear OMIM:600257
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Quadriceps muscle atrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculatur... ORPHA:482601
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Foot dorsiflexor weakness, Optic atrophy, Optic disc pallor, Hearing impairment OMIM:617087
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Gliosis, Mental deterioration, Frequent falls, Gait ataxia, Spasticity OMIM:618369
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy OMIM:181430
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Diencephalic Syndrome
Hydrocephalus, Decreased body weight, Cachexia, Long penis, Optic atrophy, Macrotia ORPHA:1672
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... ORPHA:603
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia, Nonprogressive muscular atrophy, Distal amyotrophy ORPHA:1216
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Gliosis, Limb ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordi... OMIM:213200
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Ghosal Hematodiaphyseal Dysplasia
Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly ORPHA:1802
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... OMIM:614065
Scapuloperoneal Myopathy, X-Linked Dominant
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... OMIM:300695
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower... ORPHA:219
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Weakness of facial musculature, Scoliosis, Foot dorsiflexor weakness, Wrist flexion contracture, ... OMIM:619519
Neuronopathy, Distal Hereditary Motor, Type Va
First dorsal interossei muscle atrophy, Distal amyotrophy, Thenar muscle atrophy, Upper limb amyo... OMIM:600794
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Gliosis, Bradykinesia, Limb ataxia, Dysmetria, Intention tremor, Myoclo... OMIM:607136
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Hyperlordosis, Muscle fiber splitting, Scapular winging, Myopathy, Proximal amyotrophy OMIM:618129
Gemignani Syndrome
Sensorineural hearing impairment, Skeletal muscle atrophy, Hypoplasia of penis, Abnormal testis m... ORPHA:2074
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Obesity OMIM:264010
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Gliosis, Bradykinesia, Mental deterioration, Rigidity, Parkinsonism, Memory impairment, Gait dist... OMIM:221820
Huntington Disease
Gliosis, Bradykinesia, Rigidity, Chorea, Gait ataxia, Dementia OMIM:143100
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Flexion contracture, Cachexia, Hyperlordosis, Skeletal muscle atrophy, Myopathy ORPHA:157973
Pick Disease Of Brain
Motor stereotypy, Apathy, Gliosis, Diminished motivation, Emotional blunting, Frontotemporal deme... OMIM:172700
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Bifid scrotum, Micropenis, Small for gestational age, Urethral d... ORPHA:95706
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Scoliosis, Distal amyotrophy, Abnormal auditory evoked... OMIM:601382
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Congenital contracture, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:208100
Spinal Muscular Atrophy, Scapuloperoneal
Scapular muscle atrophy, Peroneal muscle atrophy, Spinal muscular atrophy OMIM:271220
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Scoliosis, Congenital muscular dystrophy, Fatty r... OMIM:613204
Ethanolaminosis
Cardiomegaly OMIM:227150
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Moynahan Syndrome
Sensorineural hearing impairment, Cachexia, Hypogonadism ORPHA:2574
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly ORPHA:2204
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Bethlem Myopathy 1
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... OMIM:158810
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Flexion contracture, Micropenis, Hypospadias, Facial palsy, Scoliosi... OMIM:301830
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Foot dorsiflexor weakness, Distal amyotr... OMIM:616040
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Apathy, Gliosis, Extrapyramidal dyskinesia, Parkinsonism, Tetraparesis, Apraxia, Fro... OMIM:105550
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... OMIM:615415
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis, Dementia OMIM:606688
Multiminicore Myopathy
Failure to thrive, Abnormal muscle fiber morphology, Spinal rigidity, Proximal muscle weakness in... ORPHA:598
Isolated Glycerol Kinase Deficiency
EEG abnormality, Scoliosis, Hyperlordosis, Cryptorchidism, Myopathy ORPHA:408
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Lumbar hyperlordosis, Back pain, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed v... OMIM:167320
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Hip contracture, Nonprogressive muscular atrophy, Scoliosis, Hyperlordosis, Spinal musc... OMIM:600175
Mental Retardation, X-Linked 82
Kyphosis, EEG abnormality, Scoliosis OMIM:300518
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Short Stature And Microcephaly With Genital Anomalies
Failure to thrive, Decreased body weight, External genital hypoplasia, Micropenis, Scoliosis, Phi... OMIM:618702
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,... ORPHA:79106
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Merrf
Sensorineural hearing impairment, Ragged-red muscle fibers, Optic atrophy, Myopathy ORPHA:551
Rigid Spine Syndrome
Hamstring contractures, Hip contracture, Spinal rigidity, Scoliosis, Hyperlordosis, Elbow flexion... ORPHA:97244
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Gliosis, Cognitive impairment, Myoclonus, Babinski sign, Abnormal pyramidal sign, Akineti... ORPHA:204
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis, Reduced bone mineral density ORPHA:970
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... OMIM:605820
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Congenital muscul... OMIM:609456
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Hearing impairme... ORPHA:101075
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Scapula... OMIM:616471
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Myopathy OMIM:613076
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... OMIM:158600
Familial Expansile Osteolysis
Osteolysis, Thin bony cortex, Pathologic fracture OMIM:174810
Riboflavin Transporter Deficiency
Abnormal autonomic nervous system physiology, Cachexia, Progressive hearing impairment, Optic dis... ORPHA:97229
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment, Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Congenital Myopathy With Myasthenic-Like Onset
Failure to thrive, Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, ... ORPHA:424107
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony co... OMIM:600785
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Sensorineural hearing impairment, Decreased motor nerve conduction velocity, Foot dorsiflexor wea... OMIM:613287
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Sensorineural hearing impairment, Aminoaciduria, Decreased nerve conduction velocity, Cachexia, M... ORPHA:1933
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609200
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Decreased nerve conduction veloci... ORPHA:90103
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Skeletal muscle atrophy, Foot dorsiflexor weakness, Spinal muscular atrophy OMIM:614881
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Limitation of joint mobility, Pathologic fracture ORPHA:166277
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Anisocy... OMIM:224120
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Mcdonough Syndrome
Kyphosis, Protruding ear, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scolios... ORPHA:2471
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Myopathy With Giant Abnormal Mitochondria
Limb-girdle muscle atrophy, Myopathy OMIM:255140
Fried Syndrome
Hydrocephalus, Scoliosis, Macrotia, Hearing impairment, Skeletal muscle atrophy ORPHA:85335
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Scoliosis, Lower limb muscle weakness, Skeletal muscle atrophy OMIM:611225
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... ORPHA:86841
Spastic Paraplegia 38, Autosomal Dominant
Thenar muscle weakness, Lower limb muscle weakness, Distal amyotrophy, Thenar muscle atrophy, Fir... OMIM:612335
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Multiple joint contractures, Skeletal muscle atrophy, Flexion contracture OMIM:614915
Nemaline Myopathy 6
Nemaline bodies, Limb muscle weakness, Myopathy OMIM:609273
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Hemoglobinuria, Poikilocytosis, Fava bean... OMIM:300908
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Nemaline Myopathy 1
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Scoliosis, S... OMIM:609284
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Melorheostosis
Joint stiffness, Failure to thrive, Increased bone mineral density, Arthritis, Hyperostosis, Ecto... ORPHA:2485
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Caffey Disease
Cortical irregularity, Cortical thickening of long bone diaphyses, Periosteal thickening of long ... ORPHA:1310
Huntington Disease-Like 1
Gliosis, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, Cognitive impairment,... ORPHA:157941
Huntington Disease-Like 1
Dysmetria, Anxiety, Rigidity, Basal ganglia gliosis, Chorea, Aggressive behavior, Unsteady gait, ... OMIM:603218
Hip Dysplasia, Beukes Type
Osteoarthritis, Abnormal bone ossification, Abnormality of bone mineral density, Abnormal ossific... ORPHA:2114
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Kyphosis, Flexion contracture, Optic atrophy, Hearing impairment, Myopathy OMIM:618237
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Back pain, Spinal rigidity, Skeletal muscle hypertrophy, EMG: myopathic a... OMIM:300696
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Apathy, Gliosis, Progressive cerebellar ataxia, Frontotemporal dementia, Babinski si... ORPHA:275872
Klhl9-Related Early-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Abnormality of the calf musculatu... ORPHA:399081
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Spinal rigidity, Thoracolumbar scoliosis, Facial palsy, Skeletal muscle atr... OMIM:255600
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... OMIM:208540
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy, Failure to thrive, Kyphosis, Scoliosis OMIM:618234
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Ankle flexion contracture,... OMIM:617519
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria, Fatty replacement of skeletal muscle, Scoliosis, Myopathy OMIM:255100
Autosomal Recessive Spastic Paraplegia Type 62
Thoracic scoliosis, Skeletal muscle atrophy, Knee flexion contracture ORPHA:401785
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Sensorineural hearing impairment, Cachexia ORPHA:1144
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... OMIM:500002
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Sensorineural hearing impairment, Ragged-red muscle fibers, Myopathy OMIM:545000
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle weakness, Hand muscle atrophy, Foot dorsiflexor weakness, Distal amyotrophy OMIM:616280
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... ORPHA:609
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Cranio-Osteoarthropathy
Joint stiffness, Osteoarthritis, Abnormal cortical bone morphology, Arthritis ORPHA:1525
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Scoliosis, Distal amyotrophy OMIM:608673
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Flexion contracture, Scoliosis, Facial palsy, Ethylmalonic aciduria, Myopathy OMIM:201470
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Ragged-red muscle fibers, Weight loss, Hearing impairment OMIM:613662
Flynn-Aird Syndrome
Kyphosis, EEG abnormality, Cachexia, Scoliosis, Skeletal muscle atrophy, Progressive sensorineura... ORPHA:2047
Osteoporosis
Osteoporosis OMIM:166710
Autosomal Recessive Spastic Paraplegia Type 63
Decreased body weight, Skeletal muscle atrophy ORPHA:401805
Deafness-Infertility Syndrome
Sensorineural hearing impairment, Azoospermia, Male infertility ORPHA:94064
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Decreased nerve conduction velocity, Scoliosis, Hearing impairment, Skeletal muscle atr... ORPHA:101078
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Interosseus muscle atrophy, Spinal muscular atrophy, Distal amyotrophy, Hyperlordosis, Distal low... OMIM:607088
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Neuropathy, Hereditary Motor, With Myopathic Features
Flexion contracture, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Lower... OMIM:619216
Myopathy And Diabetes Mellitus
Sensorineural hearing impairment, Weakness of facial musculature, Pelvic girdle muscle weakness, ... ORPHA:2596
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Gliosis, Paralysis, Athetosis OMIM:300857
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Hypophosphatemic Bone Disease
Osteomalacia, Rickets OMIM:146350
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Immunodeficiency 83, Susceptibility To Viral Infections
Mental deterioration, Gliosis, Hemiparesis OMIM:613002
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal preputium morphology, Underdeveloped antitragus, Choroid plexus cyst, Glandular hypospad... ORPHA:293725
Myopathy, Myofibrillar, 6
Spinal rigidity, EMG: myopathic abnormalities, Muscular dystrophy, Scoliosis, Myofibrillar myopat... OMIM:612954
Caffey Disease
Joint hypermobility, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortica... OMIM:114000
Neuropathy, Painful
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:256870
Pontocerebellar Hypoplasia, Type 1C
Failure to thrive, Flexion contracture, Spinal muscular atrophy, Hearing impairment, Skeletal mus... OMIM:616081
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Nemaline Myopathy 7
Nemaline bodies, Kyphoscoliosis, Lumbar hyperlordosis, Weakness of facial musculature, Minicore m... OMIM:610687
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Osteomalacia, Rickets OMIM:193100
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Skeletal muscle hypertrophy, Scoliosis, Increased CSF protei... ORPHA:101082
Horizontal Gaze Palsy With Progressive Scoliosis
Sensorineural hearing impairment, Kyphosis, Short neck, Scoliosis ORPHA:2744
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Distal lower limb muscle weakness, Skeletal muscle atrophy OMIM:615025
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, EMG: myopathic abnormal... ORPHA:370980
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Ri... OMIM:146300
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... ORPHA:83451
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Myopathy, Spheroid Body
Skeletal muscle atrophy, Myopathy, Proximal amyotrophy OMIM:182920
Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal muscular atrophy, Distal amyotrophy OMIM:300489
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Orotic Aciduria
Hypochromia, Oroticaciduria, Atrial septal defect, Folate-unresponsive megaloblastic anemia, Anis... OMIM:258900
Mitochondrial Neurogastrointestinal Encephalomyopathy
Sensorineural hearing impairment, Abnormality of the extraocular muscles, Decreased sensory nerve... ORPHA:298
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Spinal rigidity, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricul... ORPHA:86812
Ataxia-Deafness-Intellectual Disability Syndrome
Sensorineural hearing impairment, Decreased nerve conduction velocity, Scoliosis, Ventriculomegal... ORPHA:1188
Duane Anomaly-Myopathy-Scoliosis Syndrome
Scoliosis, Myopathy ORPHA:50817
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Sensorineural hearing impairment, Kyphoscoliosis, Skeletal muscle atrophy, Myopathy ORPHA:300179
Distal Nebulin Myopathy
Slender build, Nemaline bodies, Weakness of facial musculature, EMG: myopathic abnormalities, Foo... ORPHA:399103
Nemaline Myopathy 2
Weakness of facial musculature, Increased variability in muscle fiber diameter, Fatty replacement... OMIM:256030
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Dandy-Walker malformation OMIM:607091
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Euphoria, Myoclonus, Babinski sign, Memory impairment, Gait disturbance, Frontal lobe de... OMIM:221770
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder, Skeletal muscle atrophy, Scoliosis, Lower limb muscle weak... ORPHA:488594
Distal Hereditary Motor Neuropathy Type 5
First dorsal interossei muscle atrophy, Thenar muscle weakness, Distal amyotrophy, Abnormal motor... ORPHA:139536
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities,... OMIM:606612
Metatropic Dysplasia
Joint stiffness, Coarse metaphyseal trabecularization, Camptodactyly of finger, Abnormal enchondr... ORPHA:2635
Childhood-Onset Nemaline Myopathy
Slender build, Facial diplegia, Nemaline bodies, Spinal rigidity, Flexion contracture, EMG: myopa... ORPHA:171439
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:611369
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Spastic Paraplegia 62, Autosomal Recessive
Thoracic scoliosis, Skeletal muscle atrophy OMIM:615681
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Abnormal bone ossification, Epiphyseal stippling ORPHA:1952
Ck Syndrome
Slender build, Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Spinal rigidity, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness o... OMIM:619566
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis, Myoclonus, Distal sensory impairment, Abnormality of extrapyramidal motor function, Deme... OMIM:604218
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Failure to thrive, ... OMIM:600081
Fetal Akinesia Deformation Sequence 4
Kyphosis, Cryptorchidism, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiple... OMIM:618393
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Spondylolisthesis, Rimmed vacuoles, Ragged-red muscle fibers, M... ORPHA:270
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Aminoaciduria, Anisocytosis, Renal hypoplasia, 3-Methylglutaconic aciduria, Lactica... OMIM:604273
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Multiple joint contractures, Limb-girdle muscle weakness, Hyperlordosis, Myopathy ORPHA:352470
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Lower limb amyotrophy, Lower limb muscle weakness, Spi... OMIM:615575
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apathy, Gliosis, Progressive language deterioration, Parkinsonism, Memory impairment, Neurofibril... OMIM:607485
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies OMIM:609524
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Abnormality of the auditory canal, Ventriculomegaly, Hearing impairm... ORPHA:319199
Spastic Paraplegia 31, Autosomal Dominant
Skeletal muscle atrophy, Urinary urgency, Lower limb muscle weakness, Distal amyotrophy OMIM:610250
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Developmental And Epileptic Encephalopathy 14
Gliosis, Spasticity, Tetraplegia, Clonus OMIM:614959
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Typ... OMIM:160150
Pleoconial Myopathy With Salt Craving
Myopathy, Proximal amyotrophy OMIM:262900
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Skeletal muscle atrophy, Distal amyotrophy OMIM:614369
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased endomysial connective tissue, Flexion contracture of finger, Proximal muscle weakness i... ORPHA:206549
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Infantile sensorineural hearing impairment, Weakness of facial musculature, Scoliosis, Spinal mus... ORPHA:254875
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
6Q Terminal Deletion Syndrome
Failure to thrive, Hypospadias, Short neck, Scoliosis, Low-set, posteriorly rotated ears, Phimosi... ORPHA:75857
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Pineocytoma
Hearing abnormality, Hydrocephalus, Increased CSF protein ORPHA:251912
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Mitochondrial Myopathy And Sideroblastic Anemia
Generalized limb muscle atrophy, Kyphosis, Scoliosis, Myopathy ORPHA:2598
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Scoliosis, Hyperlordosis, Limb muscle weakness, Decreased muscle mas... OMIM:603034
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Sensorineural hearing impairment, EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle f... OMIM:609283
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Pectoralis amyotrophy, Spinal rigidity, Congenital muscular dystr... OMIM:604801
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Increased CSF lactate, Aminoaciduria, Cachexia, Proximal tubulopathy, Weight loss OMIM:612075
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Trimethylaminuria
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly OMIM:602079
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Rickets OMIM:602722
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Short neck, Scoliosis, Increased... OMIM:300718
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... OMIM:300580
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... ORPHA:98855
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Proteus Syndrome
Splenomegaly, Calvarial hyperostosis, Thin bony cortex, Mandibular hyperostosis, Facial hyperostosis OMIM:176920
Parastremmatic Dwarfism
Kyphosis, Short neck, Scoliosis, Flexion contracture OMIM:168400
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Facial ... OMIM:607641
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hearing impairment, Hydrocephalus, EEG abnormality ORPHA:1008
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Multiple prenatal fractures, Thin bony cortex, Reduced bone mineral density OMIM:619795
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Increased endomysial connective tissue, Cryptorchidism, Flexion contracture, Minicore m... ORPHA:178148
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Scoliosis, Hyperlordosis, Skeletal muscle atrophy OMIM:617760
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Enlarged ki... ORPHA:90301
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Myopathy, Facial palsy, Skeletal muscle atrophy, Flexion contracture OMIM:616313
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
X-Linked Charcot-Marie-Tooth Disease Type 3
Hand muscle weakness, Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, Dec... ORPHA:101077
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Kyphoscoliosis, Flexion contracture, Type 1 muscle fiber predom... OMIM:609285
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Increased variability in muscle fiber diameter, Scoliosis,... OMIM:619042
Autosomal Dominant Spastic Paraplegia Type 4
Urinary bladder sphincter dysfunction, Urinary urgency, Lower limb muscle weakness, Distal amyotr... ORPHA:100985
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis, Proximal amyotrophy, Spinal muscular atrophy OMIM:271200
Fanconi Anemia
Hydrocephalus, Absent testis, Decreased fertility in males, Hypogonadism, Weight loss, Abnormal t... ORPHA:84
Muscular Dystrophy, Congenital, Lmna-Related
Failure to thrive, Spinal rigidity, Flexion contracture, Congenital muscular dystrophy, Generaliz... OMIM:613205
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Neurofibrillary tan... OMIM:137440
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Pettigrew Syndrome
Sensorineural hearing impairment, High-frequency hearing impairment, Hydrocephalus, Flexion contr... OMIM:304340
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Retic... OMIM:611590
Mitochondrial Complex I Deficiency, Nuclear Type 25
Failure to thrive, Nemaline bodies, Myopathy OMIM:618246
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Nephrolithiasis, Kyphosis, Spinal rigidity, Hypergonadotropic hypogonadism, Weakness of facial mu... ORPHA:352447
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Atrial septal defect, Nephritis, Hepatomegaly, Splenomegaly, Hypertrophic car... OMIM:617303
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Scoliosis, Facial palsy, Centrally nucleated skelet... OMIM:611705
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98863
Myopathy, Proximal, With Ophthalmoplegia
Scoliosis, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Myopathy OMIM:605637
Grant Syndrome
Abnormal cortical bone morphology, Joint hyperflexibility, Decreased skull ossification ORPHA:2097
Renpenning Syndrome
Sensorineural hearing impairment, Cachexia, Hypospadias, Round ear, Decreased testicular size, Ma... ORPHA:3242
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... OMIM:254110
Machado-Joseph Disease
Ataxia, Gliosis, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Impaired vibratory sen... OMIM:109150
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased sensory nerve conduction velocity, Flexion contracture, Decreased motor nerve conductio... OMIM:609260
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Hand muscle weakness, Decreased sensory nerve conduction velocity, Decreased motor nerve conducti... OMIM:608323
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy, Increased CSF lactate, Scoliosis OMIM:618244
Rigid Spine Muscular Dystrophy 1
Failure to thrive, Decreased body weight, Increased endomysial connective tissue, Spinal rigidity... OMIM:602771
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis OMIM:166260
Roussy-Lévy Syndrome
Urinary bladder sphincter dysfunction, Kyphoscoliosis, Intrinsic hand muscle atrophy, Decreased m... ORPHA:3115
Marinesco-Sjogren Syndrome
Failure to thrive, Kyphosis, Flexion contracture, Hypergonadotropic hypogonadism, Rimmed vacuoles... OMIM:248800
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Scoliosis, Foot dorsiflexor weakness, Distal amyotrophy, Optic atrophy, Spinal muscular atrophy ORPHA:496756
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy OMIM:616282
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Upper limb muscle weakness, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness,... OMIM:302801
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Upper limb muscle weakness, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness,... OMIM:607678
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Abnormal pinna morphology, Flexion contracture, Scoliosis, Ventriculomegaly, Arthrogryp... OMIM:618291
Ravine Syndrome
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials ORPHA:99852
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Hand tremor, Distal sensory impairment, Gait disturbance, Fasciculations, Tetraplegia OMIM:604484
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Familial Isolated Dilated Cardiomyopathy
Sensorineural hearing impairment, Myopathy ORPHA:154
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets OMIM:613388
Glycogen Storage Disease Ib
Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Splenomegaly, ... OMIM:232220
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Mitochondrial Complex I Deficiency, Nuclear Type 31
Sensorineural hearing impairment, Failure to thrive, Skeletal muscle atrophy, Ventriculomegaly OMIM:618251
Nathalie Syndrome
Hearing impairment, Skeletal muscle atrophy OMIM:255990
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Myoclonus, Gliosis, Spasticity OMIM:225753
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy OMIM:612539
Leukoencephalopathy With Vanishing White Matter
Gliosis, Memory impairment, Gait disturbance, Spasticity, Unsteady gait, Emotional lability OMIM:603896
King-Denborough Syndrome
Failure to thrive, Kyphoscoliosis, Lumbar hyperlordosis, Muscle fiber atrophy, Cryptorchidism, We... OMIM:619542
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
1Q21.1 Microduplication Syndrome
Failure to thrive, Hydrocephalus, Hypospadias, Arthrogryposis multiplex congenita, Cryptorchidism ORPHA:250994
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... ORPHA:98853
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Spinal rigidity, Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic gi... OMIM:608423
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Proximal amyotrophy, Spinal muscular atrophy, Distal amyotrophy OMIM:182980
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Joint contracture of the hand, Scoliosis, Distal amyotrophy, Spinal muscular atrophy, Hyperlordos... OMIM:611067
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Chudley-Mccullough Syndrome
Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly OMIM:604213
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Proximal muscle weakness in lower limbs, Scoliosis, Skeletal muscle atrophy,... OMIM:310440
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus, Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... OMIM:616924
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Congenital Myasthenic Syndromes With Glycosylation Defect
Lumbar hyperlordosis, Flexion contracture, Generalized weakness of limb muscles, Limb-girdle musc... ORPHA:353327
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:1486
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Optic atrophy, Abnormal auditory evoked potential... OMIM:125250
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy, Decreased testicular size, Hypogonadism, Abnormality of ... ORPHA:1875
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:615048
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Apathy, Frontotemporal dementia, Abulia, Mental deterioration, Memory impairmen... ORPHA:275864
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, EEG abnormality, Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Mus... ORPHA:272
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Flexion contracture, Scoliosis, Optic atrophy, Hypsarrhythmia, Low-set ears OMIM:300884
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Biemond Syndrome Type 2