Gene Summary

Name:
junction adhesion molecule 3
Synonyms:
Jcam3,  JAM-3,  1110002N23Rik,  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
male infertility Jam3tm1.1(KOMP)Vlcg HOM Early adult 0.00
preweaning lethality, incomplete penetrance Jam3tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal sleep behavior Jam3tm1.1(KOMP)Vlcg HET Early adult 4.49×10-05
decreased fasting circulating glucose level Jam3tm1.1(KOMP)Vlcg HET Early adult 8.22×10-05
abnormal skeletal muscle morphology Jam3tm1.1(KOMP)Vlcg HET 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
Dorsal root ganglion N/A homozygote 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
Fronto-nasal process N/A homozygote 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)
Nose N/A homozygote 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)
Spinal cord N/A homozygote 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 0.19% (1 of 515)
aorta 0.0%
bone marrow 0.0%
brain 0.75% (4 of 531)
brainstem 0.2% (1 of 507)
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.57% (3 of 529)
cerebral cortex 0.19% (1 of 521)
epididymis 13.93% (17 of 122)
esophagus 1.91% (7 of 366)
eye 0.0%
heart 0.38% (2 of 521)
hippocampus 0.38% (2 of 531)
hypothalamus 0.38% (2 of 531)
kidney 4.62% (25 of 541)
large intestine 5.61% (29 of 517)
liver 0.0%
lower urinary tract 0.19% (1 of 526)
lung 0.38% (2 of 527)
lymph node 0.19% (1 of 532)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.37% (2 of 538)
ovary 0.19% (1 of 532)
oviduct 0.0%
pancreas 0.98% (5 of 510)
peripheral nervous system 0.39% (2 of 515)
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 2.09% (11 of 526)
skeletal muscle 0.0%
skin 0.19% (1 of 521)
small intestine 5.48% (29 of 529)
spinal cord 0.57% (3 of 523)
spleen 0.37% (2 of 536)
stomach 3.66% (19 of 519)
striatum 0.39% (2 of 518)
submandibular gland 1.63% (2 of 123)
testis 1.14% (6 of 527)
thalamus 0.0%
thymus 0.19% (1 of 518)
thyroid gland 2.89% (15 of 519)
trachea 0.57% (3 of 525)
urinary bladder 0.0%
uterus 0.38% (2 of 525)
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 1.09% (5 of 460)
dorsal root ganglion 1.79% (1 of 56)
ear 0.22% (1 of 456)
embryo 0.44% (2 of 459)
eye 0.22% (1 of 453)
footplate 0.23% (1 of 444)
forebrain 0.22% (1 of 465)
forelimb 0.23% (1 of 444)
fronto-nasal process 1.72% (1 of 58)
handplate 0.22% (1 of 457)
head 0.9% (4 of 442)
heart 0.22% (1 of 452)
hindbrain 1.3% (6 of 461)
hindlimb 0.21% (1 of 469)
humerus pre-cartilage condensation 1.89% (1 of 53)
liver 0.22% (1 of 448)
lung 0.0%
mandibular process 0.22% (1 of 456)
maxillary process 0.22% (1 of 447)
midbrain 0.23% (1 of 443)
nose 1.37% (1 of 73)
oral cavity 0.22% (1 of 446)
radius-ulna pre cartilage condensation 1.75% (1 of 57)
rib pre-cartilage condensation 2% (1 of 50)
skin 0.22% (1 of 450)
spinal cord 1.49% (1 of 67)
tail 0.22% (1 of 463)
tail somite group 0.22% (1 of 458)

Associated Images

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

Embryo LacZ

LacZ images wholemount

16 Images

Adult LacZ

LacZ Images Section

28 Images

Sleep Wake

Wake state (bmp file)

16 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electroretinography

Rod waveform (pdf format)

4 Images

Electroretinography

Cone 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
Cerebellar hypoplasia, Secondary microcephaly, Ventriculomegaly, 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 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
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
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
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
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
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 51
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 17
Infertility OMIM:617214
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Brain atrophy, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Tremor, La... ORPHA:306669
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Dilated third ventricle, Babinsk... ORPHA:363654
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619528
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 24
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... OMIM:617959
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Microcephaly, Vegetative state, Corpus callo... ORPHA:77299
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Short stature, Atrophy/Degeneration affectin... OMIM:617862
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormal CSF pyruvate family amino acid concentration, Ataxia, Gliosis, Increased CSF lactate, Ce... ORPHA:79243
Reversible Cerebral Vasoconstriction Syndrome
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... ORPHA:284388
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hypoglycorrhachia, Hemiparesis, Paroxysmal lethargy, Confusion,... OMIM:606777
Lissencephaly 4
Hypertonia, Short stature, Babinski sign, Cerebellar hypoplasia, Primary microcephaly, Growth del... OMIM:614019
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 21
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617187
Immunodeficiency 104
Gastroesophageal reflux, Hepatomegaly, Otitis media, Splenomegaly, Eczema, Recurrent opportunisti... OMIM:608971
Spermatogenic Failure 26
Acephalic spermatozoa, Infertility OMIM:617961
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Immunodeficiency 61
Malabsorption, Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, R... OMIM:300310
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Macrocephaly, Normal pressure hydrocephalus, Kinetic tremor, Tremor, Gait disturbance, Ventriculo... OMIM:611808
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Diarrhea, Recurrent bronchitis, Recurrent otitis med... OMIM:613501
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Masa Syndrome
Hydrocephalus, Macrocephaly, Short stature, Microcephaly, Spastic paraplegia, Paraplegia, Shuffli... OMIM:303350
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Hypertonia, Ataxia, Macrocephaly, Cerebral atrophy, Ventriculomegaly, Cerebellar atrophy, Upper l... OMIM:613925
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia, Hemiplegia/hemiparesis, Macrocephaly, Cerebral palsy, Reduced consciousnes... ORPHA:99966
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Dysplastic corpus callosum, Inability to walk, Microcephaly, Hypoplasia of the pons, Tetr... OMIM:618276
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased CSF lactate, Cerebral atrophy, Microcephaly, Agenesis of corpus callosum, Choreoathetos... OMIM:312170
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Combined Oxidative Phosphorylation Defect Type 39
Leg dystonia, Abnormal cerebellum morphology, Increased CSF lactate, Loss of ambulation, Cerebral... ORPHA:565624
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Hemiplegia, Stroke, Cerebral hemorrhage, Brain atrophy, Intracranial hemorrhage, Parkinsonism, Co... ORPHA:136
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Growth delay, Hepatomegaly, Splenomegaly, Poikilo... OMIM:615234
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss... OMIM:614372
Dihydropyrimidine Dehydrogenase Deficiency
Hypertonia, Cerebral atrophy, Microcephaly, Lethargy, Growth delay, Agenesis of corpus callosum, ... OMIM:274270
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, Cerebellar hypoplasia, Gait ataxia, Drowsiness, Cerebellar atrophy, Growth delay,... ORPHA:488635
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus ... OMIM:604213
Dural Sinus Malformation
Hydrocephalus, Ataxia, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Poor coordination, Cer... ORPHA:97339
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Gliosis, Bradykinesia, Neuronal loss in central nervous system, Dysmetr... OMIM:607136
Cach Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Cerebral atrophy, Dysmetria, Limb ataxia, Sp... ORPHA:135
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hypoglycorrhachia, Confusion, Hemipares... ORPHA:71277
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Gliosis, Limb ataxia, Dysmetria, Short stature, Cerebellar hypoplasia, Tremor, Gait ataxi... OMIM:213200
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Coma, Confusion, Hemiparesis, Tremor, Drowsiness, Cerebellar atrophy OMIM:141500
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Neutropenia, Recur... ORPHA:70592
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Central Neurocytoma
Hydrocephalus, Ataxia, Coma, Babinski sign, Abnormal lateral ventricle morphology, Lethargy ORPHA:73256
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Abnormal cerebellar verm... ORPHA:2703
Dystonia 23
Torticollis, Axial dystonia, Cerebral cortical atrophy, Myoclonus, Arrhythmia, Head tremor, Gait ... OMIM:614860
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m... OMIM:616022
Spastic Paraplegia 32, Autosomal Recessive
Cerebral atrophy, Ankle clonus, Babinski sign, Spastic paraplegia, Difficulty walking, Cerebellar... OMIM:611252
Microcephaly, Seizures, And Developmental Delay
Ataxia, Microcephaly, Ventriculomegaly, Cerebellar atrophy, Progressive microcephaly OMIM:613402
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Male infertil... OMIM:612444
Familial Cervical Artery Dissection
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebr... ORPHA:36382
Band Heterotopia
Hydrocephalus, Macrocephaly, Ventriculomegaly, Spasticity, Agenesis of corpus callosum OMIM:600348
Moderate Hemophilia A
Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,... ORPHA:169805
Spastic Paraplegia 50, Autosomal Recessive
Gliosis, Cerebral palsy, Babinski sign, Microcephaly, Spastic paraplegia, Ventriculomegaly, Spast... OMIM:612936
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Coma, Stroke, Cerebral hemorrhage ORPHA:324703
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Myoclonus, Gait disturbance, Abnormal cerebral vascular morphology ORPHA:324708
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Brain atrophy, Severe postnatal growth retardation, Myoclonus, Microcephaly, Dilated ... ORPHA:3078
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Microcephaly, Hydrocephalus, Lethargy ORPHA:26
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Abnormal morphology... OMIM:193670
Brain Small Vessel Disease 2
Hemiplegia, Intracranial hemorrhage, Ventriculomegaly, Spastic tetraplegia, Growth delay OMIM:614483
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Cerebral atrophy, Microcephaly, Myoclonus, Atrophy/Degeneration affecting the brainstem,... OMIM:614946
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Hydrocephalus, Macrocephaly, Ataxia, Microcephaly, Ventriculomegaly OMIM:618709
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Gliosis, Cerebral atrophy, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:618369
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, Recurrent bacte... OMIM:607594
Polymicrogyria Due To Tubb2B Mutation
Microcephaly, Oromotor apraxia, Hemiparesis, Hypoplasia of the pons, Lateral ventricle dilatation... ORPHA:300573
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Spasticity, Secondary microcephaly, Dys... OMIM:617829
Methemoglobinemia, Beta Type
Methemoglobinemia, Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia, Cyanosis OMIM:617973
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death, Neutropenia OMIM:257100
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Rhizomelia OMIM:166990
Congenital Neuronal Ceroid Lipofuscinosis
Gliosis, Microcephaly, Cerebellar hypoplasia, Abnormal astrocyte morphology, Ventriculomegaly, Sp... ORPHA:168486
Young Syndrome
Recurrent bronchitis, Bronchiectasis, Azoospermia, Recurrent sinopulmonary infections, Congenital... OMIM:279000
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Short stature, Neutropenia ORPHA:90023
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Dysmetria... ORPHA:284332
Spinocerebellar Ataxia 23
Neuronal loss in central nervous system, Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait atax... OMIM:610245
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Microcephaly, Babinski sign, Frequent falls, Spasticity, Cerebellar atrophy, Spastic gait... OMIM:619742
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Brain Small Vessel Disease 3
Cerebral atrophy, Spastic tetraplegia, Cerebral hemorrhage OMIM:618360
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypertonia, Cerebral atrophy, Microcephaly, Ventriculomegaly, Spastic tetraplegia, Cerebellar atr... OMIM:618730
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Abnormal cerebellum morphology... ORPHA:98762
Huntington Disease
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Rigidity, Chorea, Gait ataxia, Ce... OMIM:143100
Bilateral Generalized Polymicrogyria
Motor stereotypy, Growth delay, Short stature, Oculogyric crisis, Microcephaly, Lateral ventricle... ORPHA:208447
Mitochondrial Complex I Deficiency, Nuclear Type 6
Brain atrophy, Abnormal pyramidal sign, Ventriculomegaly, Hypertrophic cardiomyopathy, Lethargy OMIM:618228
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Cerebral atrophy, Dysmetria, Limb hypertonia, Dilated fourth ventricle, Athetosis, Latera... ORPHA:572798
Huntington Disease-Like 1
Gliosis, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, Cerebral cortical atr... ORPHA:157941
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Cyanosis, Reticulocytosis, Jaundice OMIM:613977
Autosomal Spastic Paraplegia Type 30
Ataxia, Diffuse cerebellar atrophy, Babinski sign, Progressive spastic paraplegia, Scissor gait, ... ORPHA:101010
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... OMIM:618734
Folate Malabsorption, Hereditary
Malabsorption, Ataxia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia, Folate-responsive me... OMIM:229050
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Immunodeficiency 48
Recurrent candida infections, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Diarrhea, Pneumo... OMIM:269840
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... OMIM:614868
Hemophilia A
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm, Recurrent sinusitis, Recurrent otitis media, Bronchiectasis, Impaire... OMIM:618449
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Ataxia, Inability to walk, Cerebral atrophy, Microcephaly, Chorea, Involuntary movements, Ventric... OMIM:617804
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation, Hemiparesis ORPHA:101071
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Cerebral atrophy, Short stature, Oculogyric crisis, Microcephaly, Chorea, Later... ORPHA:178469
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Increased CSF lactate, Myoclonus, Intraventricular hemorrhage, Microcephaly, Neonatal death, Spas... OMIM:619055
Spinocerebellar Ataxia 37
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy OMIM:615945
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebral atrophy, Corpus callosum atrophy, Truncal ataxia, Cerebellar atrophy OMIM:615268
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Rigidity, Parkinsonism, Corpus ca... OMIM:221820
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Bradykinesia, Oculogyric crisis, Babinski sign, Parkinsonism, Rigidity, Myoclonus, Gait a... ORPHA:101150
Abeta Amyloidosis, Italian Type
Coma, Stroke, Cerebral hemorrhage ORPHA:324713
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Macrocephaly, Aqueductal stenosis, Spastic paraplegia, Spasticity, Agenesis of cor... OMIM:307000
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinsk... ORPHA:521406
Megalencephaly, Autosomal Dominant
Hydrocephalus, Macrocephaly OMIM:155350
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Pineocytoma
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia ORPHA:251912
Dopa-Responsive Dystonia
Leg dystonia, Inability to walk, Poor coordination, Oculogyric crisis, Parkinsonism, Rigidity, Ga... ORPHA:255
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Gliosis, Neuronal loss in central nervous system, Cerebral atrophy, Myoclonus, Babinski s... ORPHA:204
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Macrocephaly, Ventriculomegaly OMIM:615938
Spinocerebellar Ataxia Type 5
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy ORPHA:98766
Autosomal Recessive Spastic Paraplegia Type 32
Abnormal pons morphology, Babinski sign, Progressive spasticity, Difficulty walking, Progressive ... ORPHA:171622
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Stroke, CSF pleocytosis, Cerebral vasculitis, Intracranial hemorrhage, Parki... ORPHA:140989
Cd8 Deficiency, Familial
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... OMIM:608957
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy OMIM:605388
Developmental And Epileptic Encephalopathy 14
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy, Microcephaly, Spasti... OMIM:614959
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Limb ataxia, Microcephaly, Babinski sign, Gait ataxia, Spasticity, Cerebellar atrophy, Gr... OMIM:614322
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia, Cerebellar atrophy ORPHA:423296
Cog5-Cdg
Brain atrophy, Short stature, Microcephaly, Truncal ataxia, Atrophy/Degeneration affecting the br... ORPHA:263487
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypertonia, Myoclonus, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Primary microc... ORPHA:284417
Developmental And Epileptic Encephalopathy 76
Inability to walk, Cerebral atrophy, Microcephaly, Cerebellar atrophy, Upper limb spasticity, Low... OMIM:618468
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Protein-losing enteropathy, Chronic sinusitis, Recur... OMIM:613502
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Motor stereotypy, Macrocephaly, Normal pressure hydrocephalus, Postnatal growth reta... ORPHA:300570
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Developmental And Epileptic Encephalopathy 40
Cerebral cortical atrophy, Myoclonus, Choreoathetosis, Spasticity, Spastic tetraparesis, Intraute... OMIM:617065
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Slurred speech, Gait ataxia, Ventriculomegaly, Cerebellar atrophy OMIM:619323
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Dysmetria, Acute myelomonocytic leukemia, Pancytopenia, Unsteady gait... OMIM:159550
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia OMIM:615889
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Patent ductus arteriosus, Mild fetal ventriculomegaly, Agenesis of corpus callosu... OMIM:610498
Glutaryl-Coa Dehydrogenase Deficiency
Progressive macrocephaly, Subependymal nodules, Ataxia, Subdural hemorrhage, Pallidal degeneratio... ORPHA:25
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eczema, Atopic d... OMIM:243700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia OMIM:242870
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Ataxia, Clumsiness, Thick eyebrow, Dysmetria, Limb ataxia, Intention tremor, Mi... OMIM:616127
Nescav Syndrome
Cerebellar vermis atrophy, Inability to walk, Cerebral atrophy, Microcephaly, Babinski sign, Spas... OMIM:614255
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Increased CSF lactate, Paralysis, Lethargy OMIM:613710
Ficolin 3 Deficiency
Necrotizing enterocolitis, Recurrent abscess formation, Recurrent lower respiratory tract infecti... OMIM:613860
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Slc35A2-Cdg
Inability to walk, Cerebral atrophy, Short stature, Microcephaly, Tetralogy of Fallot, Atrophy/De... ORPHA:356961
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Gliosis, Myoclonus, Microcephaly, Hy... OMIM:225753
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Paralysis, Cerebral hemorrhage OMIM:603285
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Alexander Disease
Hydrocephalus, Ataxia, Dysmetria, Babinski sign, Abnormal dentate nucleus morphology, Drowsiness,... OMIM:203450
Hydrocephalus With Cerebellar Agenesis
Cerebellar agenesis, Hydrocephalus OMIM:307010
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Juvenile Huntington Disease
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... ORPHA:248111
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Cerebellar atrophy ORPHA:217012
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Decreased response to growth hormone stimulation test, Enteroviral dermat... OMIM:307200
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar ve... OMIM:300864
Fanconi Anemia, Complementation Group G
Neutropenia, Growth delay, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Microlissencephaly
Hypertonia, Cerebral cortical atrophy, Microcephaly, Ventriculomegaly, Cerebellar atrophy ORPHA:1083
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Recu... ORPHA:183675
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebellum morphology, Gliosis, Short stature, Microcephaly, Hyperkinetic movements, Gai... OMIM:300957
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Short stature, Dysdiadochokinesis, Abnormal pyramidal sign,... OMIM:614831
Hemimegalencephaly
Gliosis, Macrocephaly, Myoclonus, Hemiparesis, Abnormal neuron morphology, Ventriculomegaly ORPHA:99802
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, Recurrent opportunistic infections, Diarrhea, B lymphocytopenia,... OMIM:601457
Malan Overgrowth Syndrome
Macrocephaly, Lateral ventricle dilatation, Ventriculomegaly, Low posterior hairline, Episodic at... ORPHA:420179
Autosomal Recessive Spastic Paraplegia Type 66
Limb hypertonia, Cerebellar hypoplasia, Difficulty walking, Progressive spastic paraplegia, Spast... ORPHA:401815
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:603552
Glutathione Synthetase Deficiency
Hemolytic anemia, Ataxia, Neutropenia OMIM:266130
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... ORPHA:911
Methanol Poisoning
Permanent atrial fibrillation, Abnormal cerebellar cortex morphology, Coma, Cerebral hemorrhage, ... ORPHA:31825
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Cerebral atrophy, Babinski sign, Parkinsonism, Rigidity, Falls, Gait... OMIM:300423
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Developmental And Epileptic Encephalopathy 41
Inability to walk, Cerebral atrophy, Microcephaly, Spasticity, Lethargy OMIM:617105
Papilloma Of Choroid Plexus
Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis, Choroid plexus papilloma ORPHA:2807
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage OMIM:603284
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Brain atrophy, Limb ataxia, Truncal ataxia, Difficulty walking ORPHA:363432
Wyburn-Mason Syndrome
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Cerebral palsy... ORPHA:53719
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Macrocephaly, Ventriculomegaly OMIM:615937
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Coma, Cerebral hemorrhage, Hyperglycorrhachia, ST segment d... ORPHA:90065
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Azoospermia, ... OMIM:602390
Arnold-Chiari Malformation Type Ii
Paraparesis, Myelomeningocele, Hydrocephalus, Ataxia, Aqueductal stenosis, Opisthotonus, Neurogen... ORPHA:1136
Immunodeficiency 84
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... OMIM:619437
Alg13-Cdg
Abnormal lateral ventricle morphology, Clumsiness, Global brain atrophy ORPHA:324422
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Asthma, Recurrent bacterial skin infections, Onychomycosis, Atopic ... ORPHA:217390
Pyruvate Dehydrogenase Deficiency
Ataxia, Cerebral palsy, Abnormal pyramidal sign, Microcephaly, Gait disturbance, Tremor, Choreoat... ORPHA:765
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormal cerebellum morphology, Myoclonus, Babinski sign, Tremor, Diffuse cerebral atroph... OMIM:615362
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Immotile sperm, Chronic bronchitis, Otitis media, Reduced sperm motility, Absent ... OMIM:613807
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Isolated Agammaglobulinemia
Sinusitis, Malabsorption, Skin rash, Otitis media, Sepsis, Diarrhea, Abnormal lymphocyte morpholo... ORPHA:229717
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Stomac... ORPHA:331235
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced sperm motility, Reduced forced vital capa... OMIM:619436
Hemochromatosis, Type 3
Amenorrhea, Impotence, Lymphopenia, Hypogonadotropic hypogonadism, Purpura, Neutropenia, Anemia OMIM:604250
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Myoclonus, Rigidity, Athetosis, Gait disturbance, Ventriculomegaly, Cerebellar... OMIM:618241
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617769
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordinati... OMIM:130950
Alpha-Thalassemia-Myelodysplastic Syndrome
Bruising susceptibility, Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Sneddon Syndrome
Hemiplegia, Stroke, Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke OMIM:182410
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Diarrhea, B lymphocytopenia, Recurrent bronchitis, Chronic sinusi... OMIM:612692
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Agenesis of corpus callosum, Lethargy OMIM:613163
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Hemiplegia/hemiparesis, Aqueductal stenosis, Holoprosencephaly, Spasticity, Agenes... ORPHA:2182
Fatty Acyl-Coa Reductase 1 Deficiency
Inability to walk, Short stature, Cerebellar atrophy, Spastic tetraparesis, Growth delay, Progres... ORPHA:438178
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Microcephaly, Growth delay, Abnormal position of hair whorl ORPHA:85290
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Absent circulating B cells, Recurrent pneumonia, Recu... OMIM:613500
Immunodeficiency 32B
Sinusitis, Splenomegaly, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory i... OMIM:226990
Narcolepsy 7
Narcolepsy, Type II diabetes mellitus OMIM:614250
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Glycine Encephalopathy
Myoclonus, Agenesis of corpus callosum, Lethargy OMIM:605899
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Cerebellar atrophy, Gait ataxia, Limb ataxia OMIM:617133
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebral atrophy, Short stature, Microcephaly, Babinski sign, Spasticity, Cerebellar atrophy, Wad... OMIM:619090
Autosomal Recessive Spastic Paraplegia Type 11
Paraparesis, Ataxia, Cerebral cortical atrophy, Frontal cortical atrophy, Inability to walk, Orth... ORPHA:2822
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Poor gross motor coordination, Cerebral palsy, Lateral ventricle dilatation, Secondary microcepha... ORPHA:2148
Pseudo-Torch Syndrome 2
Petechiae, Cerebral hemorrhage, Microcephaly, Cerebellar hypoplasia, Patent ductus arteriosus, Ve... OMIM:617397
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis, Severe short stature OMIM:302000
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Chronic oral candidiasis, Lymphopenia, Otitis media, Recurrent herp... ORPHA:169160
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebral cortical atrophy, Vegetative state, Cerebellar hypoplasia, Chorea, Athetosis, Spastic te... OMIM:619922
Dystonia With Cerebellar Atrophy
Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia, Cerebellar atrophy, Dystonia OMIM:611694
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Short stature, Neutropenia OMIM:610798
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Malabsorption, Colitis, Viral hepatitis, Recurrent fungal infecti... OMIM:209920
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sparse scalp hair, Dysplastic corpus callosum, Macrocephaly, Absent eyebrow, Sparse eyebrow, Alop... ORPHA:544488
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Recurrent infection of the gastrointestinal tract, Lymphopenia, Recurrent sinopulm... ORPHA:486
Omenn Syndrome
Recurrent fungal infections, Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Recurrent bact... OMIM:603554
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait, Cerebellar atrophy OMIM:616410
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partia... OMIM:304100
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Immotile sperm, Absent central microtubular pair morphology of respiratory motile... OMIM:617091
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor, Diffuse cerebral atrophy, Gait disturbance OMIM:300660
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait imbalance, Dysplastic corpus callosum, Cerebral cortical atrophy, Gait disturbance, Lateral ... ORPHA:488627
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Spinocerebellar Ataxia 38
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:615957
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Ob... ORPHA:399805
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Sepsis, Recurrent opportunistic infections, Diarrhea, Pneumonia, Recurrent Haemophi... ORPHA:276
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... OMIM:608184
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Short stature, Moyamoya phenomenon, Dilated cardiomyopathy, Delayed puberty,... ORPHA:280679
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Cerebellar hypoplasia, Tremor, Spastici... OMIM:615768
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Macrocephaly, Cerebral atrophy, Abnormal bleeding, Microcephaly, Abnormal pyramida... OMIM:300884
Alg2-Cdg
Lateral ventricle dilatation, Microcephaly ORPHA:79326
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Hydrocephalus, Hemiparesis, Intracranial hemorrhage ORPHA:398189
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Spinocerebellar Ataxia 31
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:117210
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypertonia, Neuronal loss in central nervous system, Gliosis, Microcephaly, Babinski sign, Rigidi... OMIM:614498
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Recurrent bacterial infections, Diarrhea, Recurrent sinusitis, Mening... OMIM:240500
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
Distal Monosomy 10Q
Ataxia, Postnatal growth retardation, Poor fine motor coordination, Short stature, Microcephaly, ... ORPHA:96148
Sodium-Dependent Multivitamin Transporter Deficiency
Cerebral atrophy, Microcephaly, Cerebral palsy, Hypoplasia of the pons, Spasticity, Cerebellar at... OMIM:618973
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile ... OMIM:618801
Spinocerebellar Ataxia Type 30
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia ORPHA:211017
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Microcephaly, Cerebral atrophy, Truncal ataxia, Cerebellar atrophy OMIM:611726
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic an... OMIM:614470
Machado-Joseph Disease
Ataxia, Gliosis, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Abnormality of extrapy... OMIM:109150
Hydranencephaly
Cerebral cortical atrophy, Postnatal growth retardation, Opisthotonus, Abnormal internal carotid ... ORPHA:2177
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle, Truncal ataxia, Agenesis of cerebellar vermis, Partial a... OMIM:220200
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Hirsutism, Dysmetria, Short stature, Dysdiadochokinesis, Truncal ataxia, Cerebellar hypoplasia, T... OMIM:610185
Scedosporiosis
Unusual CNS infection, Sepsis, Pneumonia, Pericarditis, Arthralgia/arthritis, Respiratory failure... ORPHA:449280
Leukoencephalopathy With Vanishing White Matter
Macrocephaly, Gliosis, Cessation of head growth, Gait disturbance, Spasticity, Unsteady gait, Let... OMIM:603896
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Gliosis, Short stature, Microcephaly, Hyperkinetic movements, Gait disturbance,... ORPHA:457240
Sneddon Syndrome
Intracranial hemorrhage, Hemiparesis, Chorea, Tremor, Arterial stenosis, Hypertension ORPHA:820
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hypertonia, Microcephaly, Dystonia, Intrauterine growth retardation, Cardiomyopathy, Lethargy ORPHA:26792
Ciliary Dyskinesia, Primary, 36, X-Linked
Infertility, Cough, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis, Recurrent... OMIM:300991
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Broad-based gait, Hydrocephalus, Microcephaly, Tremor, Spastic tetraparesis OMIM:619470
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Short stature, Dysdiadochokinesis, Gait ataxia, Ce... OMIM:616291
Methylmalonic Acidemia With Homocystinuria Type Cblf
Growth delay, Intraventricular hemorrhage, Intrauterine growth retardation, Lethargy ORPHA:79284
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Broad-based gait, Growth delay, Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Dysmet... ORPHA:363429
Leukodystrophy, Hypomyelinating, 14
Cerebral atrophy, Microcephaly, Spasticity, Cerebellar atrophy, Growth delay, Dystonia OMIM:617899
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Gliosis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to... ORPHA:275872
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:1538
Ciliary Dyskinesia, Primary, 32
Infertility, Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, R... OMIM:616481
Spinocerebellar Ataxia, Autosomal Recessive 29
Ataxia, Cerebellar vermis atrophy, Inability to walk, Corpus callosum atrophy, Cerebellar atrophy... OMIM:619389
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Diffuse cerebellar atrophy, Abnormality of extrapyramidal motor function, Myoclonus, ... ORPHA:352596
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:618806
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Spasti... OMIM:619302
Leukodystrophy, Hypomyelinating, 21
Ataxia, Coma, Microcephaly, Corpus callosum atrophy, Tetraparesis, Athetosis, Cerebellar atrophy,... OMIM:619310
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Atrophy/Degeneration affecting the brai... OMIM:616230
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Dystonia, Lethargy OMIM:618224
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Infertility, Respiratory insufficiency due to defective ciliary clearance, Chroni... OMIM:615500
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ataxia, Increased CSF lactate, Short stature, Microcephaly, Abnor... OMIM:614947
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Bradykinesia, Chorea, Hypertrophic cardiomyopathy, Lethargy OMIM:618683
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Gait disturbance,... OMIM:604484
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Short stature, Moyamoya phenomenon, Dilated cardiomyopathy, Abnormal cerebra... OMIM:300845
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Clumsiness, Dysmetria, Short stature, Intention tremor, Gait ataxia, Spasticity, Cerebell... OMIM:608029
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Cerebellar vermis hypoplasia, Cerebellar atrophy OMIM:618876
Severe Canavan Disease
Macrocephaly, Inability to walk, Decerebrate rigidity, Babinski sign, Spasticity, Lethargy ORPHA:314911
Homocystinuria Without Methylmalonic Aciduria
Ataxia, Cerebral cortical atrophy, Lethargy ORPHA:622
Gómez-López-Hernández Syndrome
Hydrocephalus, Abnormal cerebellum morphology, Ataxia, Short stature, Cerebellar vermis hypoplasi... ORPHA:1532
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Spastic tetraparesis, Microcephaly, Brain atrophy, Cerebellar atrophy OMIM:618741
Cerebrooculofacioskeletal Syndrome 1
Hirsutism, Gliosis, Brain atrophy, Microcephaly, Neurodegeneration, Cerebellar hypoplasia, Diffus... OMIM:214150
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Cerebellar vermis atrophy, Dysmetria, Short stature, Dilated fourth ventricle, Tremor, Di... ORPHA:1170
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Cerebellar atrophy,... OMIM:616948
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Short stature OMIM:616507
Congenital Factor Xiii Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Cerebral hemorrhage, Persistent bleeding aft... ORPHA:331
Mitochondrial Complex I Deficiency, Nuclear Type 5
Ataxia, Brain atrophy, Babinski sign, Cerebellar atrophy, Progressive microcephaly, Dystonia, Let... OMIM:618226
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... ORPHA:52901
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Ataxia, Coma, Stroke, Microcephaly, Delirium, Confusion, Cerebral ischemia, Par... ORPHA:927
Periventricular Nodular Heterotopia 1
Cerebellar hypoplasia, Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Mirage Syndrome
Adrenal insufficiency, Gastroesophageal reflux, Lymphopenia, Hypergonadotropic hypogonadism, Hypo... OMIM:617053
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Tremor, Inability to walk, Ventriculomegaly OMIM:619561
Spinocerebellar Ataxia Type 41
Gait ataxia, Cerebellar vermis atrophy ORPHA:458798
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Acne, Macroorchidism ORPHA:3000