Gene Summary

Name:
junction adhesion molecule 3
Synonyms:
JAM-3,  1110002N23Rik,  Jcam3,  JAM-C

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
abnormal skeletal muscle morphology Jam3tm1.1(KOMP)Vlcg HET Early adult 0.00
preweaning lethality, incomplete penetrance Jam3tm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased fasting circulating glucose level Jam3tm1.1(KOMP)Vlcg HET   Early adult 5.09×10-05
male infertility Jam3tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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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
Bone marrow  Section images heterozygote 100% (1 of 1)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Heart 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 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin 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)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Rib pre-cartilage condensation N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
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)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
humerus pre-cartilage condensation 1.59% (1 of 63)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
radius-ulna pre cartilage condensation 1.59% (1 of 63)
rib pre-cartilage condensation 1.79% (1 of 56)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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

28 Images

Sleep Wake

Wake state (bmp file)

16 Images

Embryo LacZ

LacZ images wholemount

12 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

Electroretinography

Cone waveform (pdf format)

4 Images

Electroretinography

Rod waveform (pdf format)

4 Images

Human diseases caused by Jam3 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 Jam3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Ventriculomegaly, Cerebellar hypoplasia, Spasticity OMIM:613730

The table below shows human diseases predicted to be associated to Jam3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Diffuse swelling of cerebral white matter, Cerebral atrophy, ... OMIM:613925
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, C... OMIM:617862
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Ischemic stroke, Intraventricular hemorrhage, Subarachnoid hemorrhage, Subdura... ORPHA:284388
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Oromotor apraxia, Attention deficit hyperactivity disorder, Pachygyria, ... ORPHA:300573
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Difficulty walking, Hemiparesis, Bradykinesia, Brain atrophy, Parkinsonism, Cer... ORPHA:306669
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebellar atrophy, Simplified gyral... OMIM:613402
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spastic Paraplegia 32, Autosomal Recessive
Spastic paraplegia, Difficulty walking, Hypoplasia of the corpus callosum, Cerebral atrophy, Ankl... OMIM:611252
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Immunodeficiency 51
Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Brain Small Vessel Disease 3
Cerebral atrophy, Cerebral hemorrhage, Spastic tetraplegia, Cerebral calcification, Leukoencephal... OMIM:618360
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Stereotypy, Ma... OMIM:618709
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Secondary microcephaly, Hemiparesis, Ataxia, Paralysis, Confusion,... OMIM:606777
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Atypical Teratoid Rhabdoid Tumor
Cerebral palsy, Reduced consciousness/confusion, Ataxia, Hemiplegia/hemiparesis, Cerebral calcifi... ORPHA:99966
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Hemiplegia, Loss of consciousness, Ischemic stroke, Intracranial hemorrhage, Abnormal cerebral wh... ORPHA:136
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Hypertonia, Ce... OMIM:618730
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia gliosis, Dystonia, Gliosis, Increased CSF lactate, Cerebellar cyst, Hypoplasia of t... ORPHA:79243
Dystonia 23
Axial dystonia, Arrhythmia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atro... OMIM:614860
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Vegetative state, Atrophy/Degeneration affecting the brainstem, Cerebell... ORPHA:77299
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Brain Small Vessel Disease 2
Hemiplegia, Porencephalic cyst, Intracranial hemorrhage, Ventriculomegaly, Growth delay, Polymicr... OMIM:614483
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Apraxia, Neurodegeneration, Ataxia, Cerebellar atrophy, Progressive leukoenceph... OMIM:615889
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Megalencephaly, Autosomal Dominant
Macrocephaly, Megalencephaly, Hydrocephalus OMIM:155350
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Corpus callosum atrophy, Cerebral atrophy, Cerebellar atrophy OMIM:615268
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Hypoplasia of the corpus callosum, Babinski sign, Cerebellar cortical atrophy... ORPHA:171622
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Developmental And Epileptic Encephalopathy 76
Inability to walk, Upper limb spasticity, Hypoplasia of the corpus callosum, Cerebral atrophy, Ce... OMIM:618468
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Megalencephaly, Polymicrogyria, Macrocephaly, Hydrocephalus OMIM:615938
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Gliosis, Cerebral atrophy, Cerebellar atrophy, Torticollis, Frequent falls, Spasticity OMIM:618369
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Tetraparesis, Ataxia, Dysplastic corpus callosum, Cerebellar atrophy... OMIM:618276
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Gait disturbance, Abnormal cerebral white matter morphology, Leukoenc... OMIM:300660
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Babinski sign, Short stature, Atrophy/Degenera... OMIM:616192
Mental Retardation, Autosomal Dominant 48
Highly arched eyebrow, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebella... OMIM:617751
Methanol Poisoning
Basal ganglia necrosis, Coma, Bilateral basal ganglia lesions, Abnormal caudate nucleus morpholog... ORPHA:31825
Combined Oxidative Phosphorylation Defect Type 39
Increased CSF lactate, Toe walking, Deep white matter hypodensities, Corpus callosum atrophy, Hyp... ORPHA:565624
Spinocerebellar Ataxia 17
Dystonia, Gait ataxia, Apraxia, Gliosis, Limb ataxia, Chorea, Ataxia, Bradykinesia, Confusion, Ce... OMIM:607136
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Apraxia, Choreoathetosis, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis,... ORPHA:71277
Masa Syndrome
Spastic paraplegia, Hydrocephalus, Ventriculomegaly, Lower limb spasticity, Short stature, Macroc... OMIM:303350
Cerebral Cavernous Malformations 3
Abnormal cerebral morphology, Cerebral hemorrhage, Paralysis OMIM:603285
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Macrocephaly, Hemimegalencep... OMIM:615937
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Cerebral atrophy, Growth delay, Hyperactivity, Tetraplegia, Microcephaly, A... OMIM:274270
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly, Macroc... OMIM:611808
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Paraparesis, Recurrent subcortical infarcts, Tetraparesis, Hemiparesis, ... ORPHA:140989
Phosphoserine Phosphatase Deficiency
Hypertonia, Cerebral atrophy, Postnatal growth retardation, Intrauterine growth retardation, Micr... OMIM:614023
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Abnormality of extrapyramidal motor function, Cerebral atrophy, Abnormal p... ORPHA:204
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Cerebral atrophy, Bradykinesia, Ankle clonus, Cerebellar atrophy, Progressive i... ORPHA:521406
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis, Macrocephaly, Hydroceph... OMIM:300864
Immunodeficiency 61
Colon cancer, Recurrent otitis media, Recurrent sinusitis, Malabsorption, Recurrent bacterial inf... OMIM:300310
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Basal ganglia cysts, Episodic ataxia, Lethargy, Increased CSF lactate, Ventriculomegaly... OMIM:312170
Alexander Disease
Progressive macrocephaly, Ataxia, Increased CSF protein, Hydrocephalus, Spasticity OMIM:203450
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, Myoclonus, Secondary microceph... OMIM:617829
Spastic Paraplegia 50, Autosomal Recessive
Spastic paraplegia, Gliosis, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar atro... OMIM:612936
Developmental And Epileptic Encephalopathy 14
Gliosis, Clonus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Tetraplegia, Micro... OMIM:614959
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar dysplasia, Cerebellar hypoplasia,... OMIM:604213
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Gait disturbance, Lethargy, Hydrocephalus ORPHA:26
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Growth delay, Ataxia, Cerebellar atrophy, Babinski sign, Microcephaly, ... OMIM:614322
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Cerebral atrophy, Poor fine motor coordination... ORPHA:98762
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:608971
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Subdural hemorrhage, Increased head circumference, T2 hypointense basal ganglia, Rigidi... ORPHA:25
Pseudo-Torch Syndrome 2
Lethargy, Ventriculomegaly, Cerebellar hypoplasia, Polymicrogyria, Cerebral hemorrhage, Petechiae... OMIM:617397
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Ventriculomegaly, Cerebral atrophy, Growth delay, Cerebellar atrophy, Atrophy/Degenerati... OMIM:614946
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Ankle clonus, Cerebellar atro... OMIM:617013
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ventriculomegaly, Abnormal cerebral white matter morphology, Ataxi... ORPHA:248111
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Apraxia, Gliosis, Abnormal cerebral white matter morphology, Bradykinesia, Leukoencephalopathy, R... OMIM:221820
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Diarrhea, Recurrent bacterial infectio... OMIM:613501
Nescav Syndrome
Inability to walk, Cerebral atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Babinski sign... OMIM:614255
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Chorea, Ventriculomegaly, Cerebral atrophy, Ataxia, Synophrys, Cereb... OMIM:617804
Cach Syndrome
T2 hypointense thalamus, Progressive macrocephaly, Truncal ataxia, Limb ataxia, Growth delay, Cer... ORPHA:135
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Hypoplastic hipp... ORPHA:208447
Leukodystrophy, Hypomyelinating, 11
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Hypoplasia of the corpus callosum, Abnormal cereb... ORPHA:178469
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Neutropenia, Diarrhea, Chronic sinusitis, Recurrent ... OMIM:613502
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Neutropenia, Sinusitis, C... OMIM:601495
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Gait imbalance, Growth delay, Cerebellar hypoplas... ORPHA:488635
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Decreased mean corpuscular volume, Growth delay, Hepatomegaly, Anemia, ... OMIM:615234
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Microcep... OMIM:611726
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent Klebsiella infections, Recurr... OMIM:614372
Hemimegalencephaly
Pachygyria, Gliosis, Ventriculomegaly, Hemiparesis, Polymicrogyria, Hyperintensity of cerebral wh... ORPHA:99802
Leukodystrophy, Hypomyelinating, 14
Dystonia, Growth delay, Cerebral atrophy, Cerebellar atrophy, Microcephaly, Spasticity OMIM:617899
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... OMIM:615362
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Gliosis, Ventriculomegaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasi... ORPHA:168486
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Macrocephaly, Subcortical band heterotopia, Agen... OMIM:600348
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Gliosis, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unstead... OMIM:213200
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Hepatomegaly, Diarrhea, Splenomegaly, Recurrent candida infections OMIM:269840
Agammaglobulinemia 2, Autosomal Recessive
Meningitis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia OMIM:613500
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Hemiparesis, Cortical dysplasia, Cerebral hypoplasia, Dilation of lateral ... ORPHA:101071
Abeta Amyloidosis, Iowa Type
Gait disturbance, Stroke, Cerebral hemorrhage, Myoclonus, Abnormal cerebral vascular morphology ORPHA:324708
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Hypoplasia of the corpus callosum, Cerebral atrophy, Spasticity, Cerebellar atrophy, Polymicrogyr... OMIM:618973
Migraine, Familial Hemiplegic, 1
Hemiplegia, Coma, Tremor, Hemiparesis, Ataxia, Confusion, Drowsiness, Cerebellar atrophy OMIM:141500
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Recurrent viral infections, Leukopenia, Recurrent bacteria... OMIM:310350
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebral atrophy, Cerebellar atrophy, Waddling gait, Babinski sign, Short stature, Microcephaly, ... OMIM:619090
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, S... OMIM:617105
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Gliosis, Incoordination, Chorea, Ventriculomegaly, Gait disturbance, Poo... ORPHA:157941
Developmental And Epileptic Encephalopathy 37
Choreoathetosis, Gait disturbance, Cerebral atrophy, Hyperkinetic movements, Cerebellar atrophy, ... OMIM:616981
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, ... ORPHA:70592
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Abnormal cerebellar vermis morphology, Type II lissencephaly, Spastic diplegia, Postnat... ORPHA:300570
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral calcification OMIM:116860
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Ataxia, Cerebellar at... OMIM:616948
Central Neurocytoma
Coma, Lethargy, Hydrocephalus, Ataxia, Cerebral calcification, Babinski sign, Abnormal lateral ve... ORPHA:73256
Pontocerebellar Hypoplasia, Type 4
Gliosis, Hypertonia, Cerebellar hypoplasia, Spasticity, Loss of Purkinje cells in the cerebellar ... OMIM:225753
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Clonus, Increased CSF lactate, Neonatal death, Spastic tetraplegia, ... OMIM:619055
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Moderate Hemophilia A
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag... ORPHA:169805
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Abetal34V Amyloidosis
Coma, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324703
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Bradykinesia, Act... OMIM:300423
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Agenesis of corpu... OMIM:610245
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Intellectual Developmental Disorder, X-Linked 12
Tremor, Gliosis, Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal cerebral white matter m... OMIM:300957
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Cerebellar atroph... OMIM:618090
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Cereb... OMIM:618606
Dandy-Walker Syndrome
Truncal ataxia, Partial absence of cerebellar vermis, Posterior fossa cyst at the fourth ventricl... OMIM:220200
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Progressive spastic paraplegia, Ataxia, Unsteady gait, Spastic gait, ... ORPHA:101010
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Ataxia, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myo... OMIM:600143
Autosomal Recessive Spastic Paraplegia Type 74
Cerebral white matter atrophy, Difficulty walking, Hypoplasia of the corpus callosum, Cerebellar ... ORPHA:468661
Specific Granule Deficiency 2
Recurrent pneumonia, Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Th... OMIM:617475
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Cough, Pneumonia... OMIM:612444
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Ventriculomegaly, Abnormal pyramidal sign, Brain atrophy, Hypertrophic cardiomyopathy OMIM:618228
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Neutropenia, Eosinophilia OMIM:257100
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Wars2-Related Combined Oxidative Phosphorylation Defect
Tremor, Abnormal periventricular white matter morphology, Difficulty walking, Ventriculomegaly, C... ORPHA:572798
Polyrrhinia
Abnormal third ventricle morphology, Dilation of lateral ventricles ORPHA:141091
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Methemoglobinemia, Beta Type
Methemoglobinemia, Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia, Cyanosis OMIM:617973
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Hypertonia, Cerebellar vermis hypoplasia, Spastic tetraparesis... ORPHA:284417
Severe Canavan Disease
Inability to walk, Lethargy, Cerebral white matter atrophy, Megalencephaly, Babinski sign, Decere... ORPHA:314911
Hydranencephaly
Dysgenesis of the thalamus, Antenatal intracerebral hemorrhage, Lethargy, Abnormal corpus striatu... ORPHA:2177
Fatty Acyl-Coa Reductase 1 Deficiency
Inability to walk, Highly arched eyebrow, Growth delay, Spastic tetraparesis, Cerebellar atrophy,... ORPHA:438178
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Bronchiectasis, Recurrent upper respiratory tra... OMIM:193670
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls OMIM:615945
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hypertension, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Conjunctivi... OMIM:612692
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Cerebellar cyst, Difficulty walking, Abnormal cerebral white matter morphology, Ventr... ORPHA:370980
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Short stature ORPHA:90023
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Dystonia, Diffuse cerebellar atrophy, Abnormality of extrapyramidal motor function, E... ORPHA:352596
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy, Incoordination, Slurred speech ORPHA:98766
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Spastic paraplegia, Agenesis of corpus callosum, Absent septum pellucidum, Aqueductal stenosis, M... OMIM:307000
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Young Syndrome
Recurrent bronchitis, Azoospermia, Bronchiectasis, Recurrent sinopulmonary infections, Congenital... OMIM:279000
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait OMIM:605388
Pineocytoma
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251912
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Recurrent pneumonia,... OMIM:607594
Developmental And Epileptic Encephalopathy 36
Abnormality of extrapyramidal motor function, Cerebral atrophy, Abnormal pyramidal sign, Microcep... OMIM:300884
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Rigidity OMIM:617018
Aicardi-Goutieres Syndrome 4
Dystonia, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebellar atrophy, C... OMIM:610333
Cerebral Visual Impairment
Ischemic stroke, Clumsiness, Intracranial hemorrhage, Abnormal cerebral white matter morphology, ... ORPHA:447788
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Intellectual Developmental Disorder, Autosomal Recessive 68
Synophrys, Broad eyebrow, Cerebellar atrophy, Periventricular leukomalacia, Microcephaly OMIM:618302
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia, Cyanosis OMIM:613977
Homocystinuria Without Methylmalonic Aciduria
Cerebral cortical atrophy, Lethargy, Ataxia ORPHA:622
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Wolff-Parkinson-White syndrome, Increased CSF lactate, Abnormal cerebral ... OMIM:614947
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Stroke, Paralysis, Dilatati... ORPHA:36382
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Leukoencephalopathy, Spasticity OMIM:611105
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Cerebellar hypoplasia, Dilation of lateral ventricles, Brain atrophy, Dilated fourth ... ORPHA:3078
Spinocerebellar Ataxia Type 38
Difficulty walking, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:423296
Hemophilia A
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Bleeding with minor o... ORPHA:98878
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Gliosis, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Abnormal... OMIM:221770
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Tremor, Increased CSF lactate, Abnormal pyramidal sign, Progressive cerebellar ataxia, ... ORPHA:139485
Pyruvate Dehydrogenase Deficiency
Dystonia, Lethargy, Tremor, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Gait dis... ORPHA:765
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Cerebral cortical atrophy, Cerebe... OMIM:604326
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Gait ataxia, Pachygyria, Truncal ataxia, Intention tremor, Cerebellar hypopla... OMIM:224050
Pontocerebellar Hypoplasia, Type 2D
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Chorea, Cere... OMIM:613811
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Gait ataxia, Kinetic tremor, Cerebral white matter atrophy, Cerebellar... ORPHA:98756
Ciliary Dyskinesia, Primary, 41
Infertility, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent otitis media, Recurr... OMIM:618449
Huntington Disease
Gait ataxia, Gliosis, Chorea, Bradykinesia, Cerebellar atrophy, Rigidity, Neuronal loss in centra... OMIM:143100
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Low anterior hairline, Dandy-Walker malformation, Spina bifida occulta, Microcephaly, Agenesis of... OMIM:618736
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Recurrent bact... OMIM:614868
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Leukoencephalopathy, Dysmetria, Steppage gait OMIM:618387
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebellar hypoplasia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Abnormal cerebell... ORPHA:2703
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Hypertonia, Microcephaly, Dilation of lateral ventricles, Spas... OMIM:618890
Gordon Holmes Syndrome
Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:212840
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Apraxia, Gliosis, Global brain atrophy, Abnorma... ORPHA:275872
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Abnormal periventricular white matter morphology, Difficulty walking, Hypoplasia of the... ORPHA:280763
Acquired Aneurysmal Subarachnoid Hemorrhage
Coma, Ischemic stroke, Increased CSF lactate, ST segment depression, Hypopituitarism, Hypertensio... ORPHA:90065
Leukoencephalopathy With Vanishing White Matter
Lethargy, Gliosis, Gait disturbance, Unsteady gait, Cessation of head growth, Leukoencephalopathy... OMIM:603896
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Hypoplasia of the corpus callosum, Spastic tetraparesis, Iron accumulation in sub... ORPHA:496756
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Cerebellar atrophy, Cortical dysplasia, Short stature, Microcephaly OMIM:608278
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Ventriculomegaly, Cerebellar atrophy, Gait ataxia, Slurred speech OMIM:619323
Abeta Amyloidosis, Italian Type
Coma, Cerebral hemorrhage, Stroke ORPHA:324713
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Microcephaly, Cerebellar atrophy, Spastic tetraparesis, Brain atrophy OMIM:618741
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Autosomal Spastic Paraplegia Type 58
Torticollis, Spasticity, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Clon... ORPHA:397946
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Ataxia, Brain atrophy, Cerebellar atrophy, Leukoencephalopathy, Babinski sign... OMIM:618226
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Gait ataxia, Tremor, Spasticity ORPHA:217012
Glycine Encephalopathy
Myoclonus, Lethargy, Agenesis of corpus callosum, Hyperactivity OMIM:605899
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Coma, Gliosis, Choroid hemorrhage, Gait disturbance, Hyperton... ORPHA:88619
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Arnold-Chiari Malformation Type Ii
Neurogenic bladder, Hydrocephalus, Difficulty walking, Paraparesis, Ventriculomegaly, Spasticity,... ORPHA:1136
Spastic Ataxia 9, Autosomal Recessive
Growth delay, Abnormal pyramidal sign, Ataxia, Cerebellar vermis atrophy, Babinski sign, Frequent... OMIM:618438
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Hypertonia, Intrauterine growth retardation, Microcephaly, Cardiomyopathy ORPHA:26792
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Lethargy, Gait ataxia, Abnormality of extrapyramidal motor function, Ataxia, Dec... ORPHA:101150
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Gliosis, Rigidity, Clonus, Hypertonia, Bradycardia, Babinski sign, Microcephaly, Myoclonic spasms... OMIM:614498
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent fungal infections, Recurrent viral infections, Recurrent sinopulmona... OMIM:243700
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Gliosis, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Cerebellar dysp... ORPHA:457240
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Parkinsonism, Substantia nigr... OMIM:600116
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Difficulty walking, Cerebral cortical atrophy, Spastic gait, Lowe... ORPHA:401820
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Premature graying of hair, Hypertension, Delayed puberty, C... ORPHA:280679
Neurodegeneration With Brain Iron Accumulation 7
Hypoplasia of the corpus callosum, Cerebral atrophy, Loss of ability to walk, Ataxia, Cerebellar ... OMIM:617916
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Microcephaly, Gliosis, Cardiomyopathy OMIM:615119
Fried Syndrome
Gait disturbance, Spastic diplegia, Abnormal cerebellum morphology, Cerebral calcification, Hydro... ORPHA:85335
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy, Hemiparesis, Gliosis OMIM:613002
Slc35A2-Cdg
Inability to walk, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cer... ORPHA:356961
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Microcephaly, Hemiparesis, Hydrocephalus ORPHA:398189
Episodic Ataxia, Type 1
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign OMIM:160120
3-Methylglutaconic Aciduria, Type Vii
Abnormality of extrapyramidal motor function, Growth delay, Cerebral atrophy, Abnormal pyramidal ... OMIM:616271
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy, Subependymal cysts, Macrocephaly, Multifocal cerebral white... OMIM:600721
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Abnormal periventricular white matter morphology, Abnormal pyram... OMIM:617225
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Clonus, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Cerebell... OMIM:612389
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Difficulty walking, Limb ataxia, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Tremor, Abnormality of extrapyramidal motor function, Diff... ORPHA:255
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe... ORPHA:572
Cog5-Cdg
Neurogenic bladder, Truncal ataxia, Cerebral white matter atrophy, Brain atrophy, Cerebellar atro... ORPHA:263487
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Ventriculomegaly, Gait disturbance, Ataxia, Frontot... ORPHA:391417
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Autosomal Recessive Spastic Paraplegia Type 66
Progressive spastic paraplegia, Difficulty walking, Hypoplasia of the corpus callosum, Cerebellar... ORPHA:401815
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Orthosta... ORPHA:2822
Menkes Disease
Sparse hair, Intracranial hemorrhage, Hypertonia, Short stature, Intrauterine growth retardation,... OMIM:309400
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Retrocerebel... OMIM:614831
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Ataxia, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Mic... OMIM:610127
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Attention deficit hyperactivity disorder, Sparse eyebrow, Absent eyelashes, Sparse eyelashes, Abs... ORPHA:544488
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Abnormal cerebral white matter morphology, Ataxia, Myoclonus, Babi... OMIM:607317
Peho-Like Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar atrophy, Polymicrogyr... OMIM:617507
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Low anterior hairline, Gait ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebell... ORPHA:320385
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Necrotizing enterocoli... OMIM:613860
Cd8 Deficiency, Familial
Bronchiectasis, Absence of CD8-positive T cells, Recurrent viral infections, Recurrent bacterial ... OMIM:608957
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617133
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Hirsutism, Cerebellar atr... OMIM:618006
Sneddon Syndrome
Hemiplegia, Tremor, Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Spinocerebellar Ataxia 41
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:616410
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Increased CSF lactate, Lethargy, Paralysis OMIM:613710
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Premature graying of hair, Cerebral hemorrhage, Stroke-like episode, Abnorma... OMIM:300845
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:601457
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, He... ORPHA:2182
Fanconi Anemia, Complementation Group G
Growth delay, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Hydrocephalus With Cerebellar Agenesis
Cerebellar agenesis, Hydrocephalus OMIM:307010
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Gait ataxia, Spastic ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Leukoenceph... OMIM:611390
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Hypertonia, Cerebral atrophy, Abnormal pyramidal sign, Bradykinesia, Ankle clon... OMIM:617435
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Clumsiness, Chorea, Cerebral atrophy, Poor fine motor coordination, Ataxia, Bra... ORPHA:79263
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Ataxia, Pancytopenia, Thrombocytopenia, Hypoplastic a... OMIM:159550
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, T lymphocytopenia, Atopic dermatitis, Recurrent bacterial skin inf... ORPHA:217390
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Cerebellar atrophy, Uns... OMIM:615768
Lissencephaly 5
Spastic paraplegia, Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus callosum,... OMIM:615191
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Neurodegeneration, Absent pubertal growth spurt, Telangiectasia of the skin, Cerebel... ORPHA:438134
Hemochromatosis, Type 3
Amenorrhea, Purpura, Lymphopenia, Impotence, Neutropenia, Anemia, Hypogonadotropic hypogonadism OMIM:604250
Gaba-Transaminase Deficiency
Lethargy, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:613163
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypoglycemia ORPHA:366
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Long eyelashes, Cerebral calcification, Myoclonus, Microcephaly, Hydrocephalus,... OMIM:617281
Methylcobalamin Deficiency Type Cble
Lethargy, Ventriculomegaly, Abnormal cerebral white matter morphology, Excessive daytime somnolen... ORPHA:2169
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615957
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly OMIM:603552
Gabriele-De Vries Syndrome
Tremor, Dystonia, Ventriculomegaly, Abnormal cerebral white matter morphology, Waddling gait, Int... OMIM:617557
Neuronal Intranuclear Inclusion Disease
Tremor, Ventriculomegaly, Gait disturbance, Ataxia, Increased CSF protein, Leukoencephalopathy, C... OMIM:603472
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Brain atrophy, Subependymal cysts, Neonatal death, Bradycardia... OMIM:610015
Internal Carotid Absence
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia ORPHA:981
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Neurofibrillary tangles, Gliosis, Lewy bodies, Cerebral cortical atrophy, Parkinsonism, ... OMIM:607485
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Diffuse cerebellar atrophy, Trunca... ORPHA:363710
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Aneurysm, Intracranial Berry, 12
Subarachnoid hemorrhage, Cerebral berry aneurysm, Fusiform cerebral aneurysm OMIM:618734
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Lymphocytosis, Recurrent bacterial skin infections, Pneumonia, Eosinophilia, Recurrent... ORPHA:911
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis OMIM:611694
Immunodeficiency 55
Short stature, Neutropenia, Postnatal growth retardation, Intrauterine growth retardation OMIM:617827
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Gliosis, Paraparesis, Cerebral atrophy, Tetraparesis, Abnormal lower motor neuron morpho... OMIM:105550
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Recurrent urinary tract infections, Onychomycosis, Pulmonary t... ORPHA:331235
Riddle Syndrome
Conjunctival telangiectasia, Clumsiness, Intraventricular hemorrhage, Abnormal cerebral white mat... ORPHA:420741
Aminoacylase 1 Deficiency
Cerebellar atrophy, Cerebral atrophy, Hyperactivity OMIM:609924
Papilloma Of Choroid Plexus
Hemiplegia/hemiparesis, Hypertonia, Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Malan Overgrowth Syndrome
Episodic ataxia, Hypoplasia of the corpus callosum, Ventriculomegaly, Macrocephaly, Low posterior... ORPHA:420179
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia, Cerebellar vermis atrophy ORPHA:211017
Pontocerebellar Hypoplasia, Type 2A
Abnormal periventricular white matter morphology, Gliosis, Abnormal cerebral white matter morphol... OMIM:277470
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Ataxia OMIM:266130
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Recurrent urinary tract infections, Pyoderma, ... OMIM:307200
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Hypoplasia of the corpus callosum, Chorea... OMIM:617672
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Hypoplasia of the corpus callosum, Ventriculomegaly, Gait disturbance, Dilati... ORPHA:488627
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Cerebral cavernous malformation, Telangiectasia, Stroke OMIM:603284
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Microcephaly 10, Primary, Autosomal Recessive
Gliosis, Hypertonia, Cerebral atrophy, Cerebellar atrophy, Intrauterine growth retardation, Micro... OMIM:615095
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Otitis media, T... ORPHA:229717
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Abnormal periventricular white matter morphology, Spastic parapares... OMIM:612319
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Abnormal periventricular white matter morphology, Spastic paraparesis, Abnormal cerebra... ORPHA:395
Ciliary Dyskinesia, Primary, 14
Chronic sinusitis, Wheezing, Abnormal ciliary motility, Reduced sperm motility, Bronchiectasis, C... OMIM:613807
Alg13-Cdg
Clumsiness, Abnormal lateral ventricle morphology, Global brain atrophy ORPHA:324422
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Pontocerebellar Hypoplasia, Type 6
Upper limb spasticity, Increased CSF lactate, Cerebral atrophy, Cerebellar hypoplasia, Cerebellar... OMIM:611523
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Spastic paraplegia, Cerebral atrophy, Limb hypertonia, Dilation of lateral ventricles, Partial ag... OMIM:617296
Leukodystrophy, Hypomyelinating, 18
Progressive spasticity, Dystonia, Abnormal periventricular white matter morphology, Cerebellar at... OMIM:618404
Scedosporiosis
Pleuritis, Pericarditis, Decreased pulmonary function, Cough, Pulmonary tuberculosis, Pneumonia, ... ORPHA:449280
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, Recurrent infections, High palate, Anteverted nares, Chronic bronchitis, D... OMIM:614069
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Clumsiness, Global brain atrophy, Diffuse spongiform leukoencephalopathy, Spastic h... ORPHA:282166
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic medication, Abnormal cere... ORPHA:254886
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Bruising suscepti... ORPHA:231401
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Brain atrophy, Hydranencephaly, Macrocephaly, Hydrocephalus,... OMIM:617967
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Recurrent bronchitis, Bronchiectasis, Recurrent si... OMIM:617091
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hemochromatosis, Type 2A
Infertility, Lethargy, Azoospermia, Amenorrhea, Hepatomegaly, Splenomegaly, Hypogonadotropic hypo... OMIM:602390
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood, Severe short stature OMIM:302000
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Tremor, Increased CSF lactate, Ventriculomegaly, Cerebral atrophy, Hypoplasia of the co... OMIM:617248
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Abnormal sperm head morphology, Abnormal sperm morphology, D... ORPHA:320391
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetri... OMIM:616291
Christianson Syndrome
Aplasia/Hypoplasia of the cerebellum, Dystonia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia o... ORPHA:85278
Corpus Callosum, Partial Agenesis Of, X-Linked
Cerebellar hypoplasia, Spasticity, Inferior vermis hypoplasia, Microcephaly, Hydrocephalus, Parti... OMIM:304100
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Tremor, Ataxia, Cerebellar atrophy, Short stature, Microcephaly, Rigid... OMIM:612438
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Coma, Delirium, Lethargy, Ataxia, Stroke, Confusion, Drowsiness, Cerebral ischemia, Stereotypy, M... ORPHA:927
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Gait ataxia, Difficulty walking, Hypoplasia of the corpus callosum, Intention tremor, Cerebellar ... ORPHA:98
Combined Oxidative Phosphorylation Deficiency 2
Ventriculomegaly, Lethargy, Agenesis of corpus callosum OMIM:610498
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Periodontitis, Lymphopenia, Leukemia, Recurrent viral infections, Pneumonia, Recurre... ORPHA:486
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Cerebellar hypoplasia, Ataxia OMIM:213000
Immunodeficiency 32B
Bronchiectasis, Pneumonia, Splenomegaly, Recurrent infections, Sinusitis, Recurrent respiratory i... OMIM:226990
Caribbean Parkinsonism
Dystonia, Apraxia, Orthostatic hypotension, Progressive gait ataxia, Ventriculomegaly, Midline br... ORPHA:97355
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Cerebral atrophy, Ataxia, Neurodegeneration OMIM:610951
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Recurrent bacterial skin infections, Cough, Decreased proportion of CD4-positive helpe... ORPHA:276
Pontocerebellar Hypoplasia, Type 15
Dystonia, Death in infancy, Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Cerebral hemorrhage, Stroke OMIM:105150