Gene Summary

Name:
activating transcription factor 2
Synonyms:
ATF-2,  Creb2,  mXBP,  CRE-BP,  D130078H02Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased blood urea nitrogen level Atf2tm1b(EUCOMM)Hmgu HET Early adult 5.40×10-05
small testis Atf2tm1b(EUCOMM)Hmgu HET Early adult 0.00
increased fasting circulating glucose level Atf2tm1b(EUCOMM)Hmgu HET Early adult 3.59×10-05
decreased mean platelet volume Atf2tm1b(EUCOMM)Hmgu HET Early adult 1.23×10-08
enlarged heart Atf2tm1b(EUCOMM)Hmgu HET Early adult 0.00
abnormal spleen morphology Atf2tm1b(EUCOMM)Hmgu HET Early adult 0.00
abnormal kidney morphology Atf2tm1b(EUCOMM)Hmgu HET Early adult 0.00
abnormal heart morphology Atf2tm1b(EUCOMM)Hmgu HET Early adult 0.00
abnormal testis morphology Atf2tm1b(EUCOMM)Hmgu HET Early adult 0.00
decreased body weight Atf2tm1b(EUCOMM)Hmgu HET Early adult 2.29×10-05
abnormal urinary bladder morphology Atf2tm1b(EUCOMM)Hmgu HET Early adult 0.00
increased lung elastance Atf2tm1b(EUCOMM)Hmgu HET Early adult 3.09×10-05
decreased thigmotaxis Atf2tm1b(EUCOMM)Hmgu HET   Early adult 6.44×10-05
decreased circulating chloride level Atf2tm1b(EUCOMM)Hmgu HET Early adult 3.68×10-06
abnormal skin morphology Atf2tm1b(EUCOMM)Hmgu 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
Adrenal gland  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone  Section images heterozygote 50% (1 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 0.0% (0 of 2)
Cerebellum  Section images heterozygote 50% (1 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Chest bone  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 50% (1 of 2)
Cranium  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Gall bladder  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 50% (1 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hindlimb  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lower urinary tract  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 0.0% (0 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Oral epithelium  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parathyroid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 0.0% (0 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 50% (1 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 0.0% (0 of 2)
Spleen  Section images heterozygote 0.0% (0 of 2)
Stomach  Section images heterozygote Ambiguous
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 0.0% (0 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 0.0% (0 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 0.0% (0 of 2)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote Not available
Epididymis N/A heterozygote Not available
Gonadal fat pad N/A heterozygote Not available
Main olfactory bulb N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote Not available
Parotid gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Sublingual gland N/A heterozygote Not available
Thalamus N/A heterozygote Not available
Trigeminal V nerve N/A heterozygote Not available
Vas deferens N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Central nervous system ganglion N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Ear N/A heterozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote Ambiguous
Eye N/A heterozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Forearm N/A heterozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Head N/A heterozygote Ambiguous
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Inner ear N/A heterozygote Ambiguous
Liver N/A heterozygote Ambiguous
Lower leg N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Nose N/A heterozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
Skeleton N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote Ambiguous
Upper arm N/A heterozygote Ambiguous
Upper leg N/A heterozygote Ambiguous
Vibrissa N/A heterozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
radius-ulna pre cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
upper arm Ambiguous
upper leg Ambiguous
vibrissa Ambiguous

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

16 Images

Adult LacZ

LacZ Images Section

214 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

Human diseases caused by Atf2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Atf2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Immunodeficiency 18
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Abnormal circulatin... OMIM:615615
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Immunodeficiency 105
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc... OMIM:619924
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Partial absence of specific antibody response to tetanus va... OMIM:618261
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Reduced natural killer cel... OMIM:615592
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplen... OMIM:608898
Immunodeficiency 102
Anemia, Increased circulating interleukin 6 concentration, Partial absence of specific antibody r... OMIM:301082
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hodgkin lymphoma, Splenomegaly, Reduced natural killer cell count, Neutrope... ORPHA:158057
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia... OMIM:300400
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Elevated circulating C-reactive protein ... OMIM:308240
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating IgG level, Abnormal circu... OMIM:241600
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... OMIM:619374
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Ne... OMIM:619281
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:613869
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Pancytopenia, Hypog... OMIM:617872
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... OMIM:614172
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer... OMIM:619802
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Bilateral coxa valga, Tremor, Limb dystonia, Hearing impairment, Obesity, Ataxia, ... OMIM:620270
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... OMIM:617514
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, T lymphocytopenia, Decreased proportion of memory B cells, Decreased c... OMIM:619510
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Decreased circulating antibody level, Abnormal na... OMIM:613101
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence OMIM:300717
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:253300
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Vertigo, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Recurrent upper respiratory tract infections, Respiratory failure... OMIM:263000
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Decreased proportion of CD3-posit... ORPHA:276
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Decreased body weight, Polyphagia, Increased... OMIM:620085
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:611722
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... OMIM:619313
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Hearing impairment, Impaired vibratory sensa... ORPHA:217012
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Increased circul... OMIM:212050
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Crazy paving pattern, ... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Death in infancy, Neonatal death, Interlobular septal th... OMIM:265120
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Optic Atrophy 2
Optic atrophy, Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,... ORPHA:319552
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Absent isohemagglutinin level, Increased circulating antibody level,... OMIM:615559
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Chromosome 3Q29 Deletion Syndrome
Clinodactyly of the 5th finger, Hyperactivity, Low-set ears, Gait ataxia, Macrotia, Long fingers,... OMIM:609425
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,... OMIM:619752
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Aplasia of the inferior half of the cerebellar vermis, Atrophy of the dentate nucleus, Broad-base... OMIM:610185
Immunodeficiency 95
Respiratory failure, Recurrent respiratory infections, Recurrent viral upper respiratory tract in... OMIM:619773
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,... OMIM:617018
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Increased circulating interleukin 6 concentration, Abnormal natural ... OMIM:620430
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Fraxe Intellectual Disability
Agitation, Clinodactyly of the 5th finger, Hyperactivity, Prominent ear helix, Recurrent hand fla... ORPHA:100973
Breath-Holding Spells
Cyanosis OMIM:607578
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Spinocerebellar Ataxia 37
Tremor, Cerebellar atrophy, Frequent falls, Ataxia, Dysphagia, Unsteady gait OMIM:615945
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu... OMIM:300971
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait, Macrotia, Inappropriate laughter, Small hand, Self-muti... OMIM:616269
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Spasticity, Bruxism, Aggressive behavior ORPHA:356996
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:613090
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ... OMIM:617718
Spinocerebellar Ataxia Type 37
Falls, Cerebellar vermis atrophy, Sensorineural hearing impairment, Dysdiadochokinesis, Tremor, T... ORPHA:363710
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Cutaneous a... OMIM:600802
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Jerky head movements, Babinski sign, Hypertonia, Difficulty walking, Impaired propr... ORPHA:251282
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Nonspecific interstitial pneu... OMIM:610913
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent meningococcal ... OMIM:614372
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen,... OMIM:613845
Huntington Disease-Like 1
Bradykinesia, Jerky head movements, Abnormal shoulder morphology, Chorea, Incoordination, Poor fi... ORPHA:157941
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Severe failure to thrive, Hyperprostaglandinuria, Hypoka... ORPHA:89938
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Hypoxemia, Respiratory tract infection, Pneumonia, Respiratory fail... ORPHA:70587
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Polydipsia, Decreased glomerular filtration rate, Hyperchloriduria,... OMIM:602522
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Spasticity, Impulsivity, Gait ataxia, Rigidity, Dystonia, Dysphagia, Clumsiness OMIM:620448
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Hypoxemia, Interlobu... ORPHA:2302
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial ... OMIM:616022
Migraine, Familial Hemiplegic, 1
Agitation, Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev... OMIM:214700
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia OMIM:247800
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction... ORPHA:216873
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ventriculomegaly, Cerebellar atrophy, Ataxia OMIM:613402
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Death in childhood, Neonatal death, Death in infancy OMIM:619334
Immunodeficiency 61
Recurrent otitis media, Obesity, Recurrent sinusitis, Attention deficit hyperactivity disorder, R... OMIM:300310
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Cerebellar atrophy, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor ster... OMIM:617862
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Primary Dystonia, Dyt13 Type
Jerky head movements, Generalized dystonia, Torticollis, Torsion dystonia, Craniofacial dystonia,... ORPHA:98807
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Orthodeoxia, Reticular pattern on pulmonary HRCT, Hon... ORPHA:2032
Lichtenstein-Knorr Syndrome
Limb ataxia, Vestibular hypofunction, Cerebellar vermis atrophy, Sensorineural hearing impairment... OMIM:616291
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Hypokalemia, Renal potass... OMIM:601678
Thrombocytopenia 10
Decreased mean platelet volume, Menorrhagia, Thrombocytopenia OMIM:620484
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Abnormality of extrapyramidal motor function, Tremor, Hearing impairment, Optic di... OMIM:165300
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, Abnormal pinna morphology, Tremor, Spasticity, Ataxia, Aggressive b... OMIM:300983
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Agitation, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar at... OMIM:617435
Pgm3-Cdg
Increased circulating IgG level, Decreased proportion of CD3-positive T cells, Increased circulat... ORPHA:443811
Atypical Rett Syndrome
Abnormal autonomic nervous system physiology, Gait ataxia, Bruxism, Pill-rolling tremor, Agitatio... ORPHA:3095
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Hyperactivity, Hydrocephalus, Tremor, Spastic tetraparesis, Moto... OMIM:619470
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Polydipsia, Hyperchloriduria, Hyperprostaglandinuria, Hypokalemia, ... OMIM:241200
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Sensorineural hearing impairment, Tremor... ORPHA:2590
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Difficulty walking, Inability to walk, Broad-based gait, Poor coordination, Spastici... OMIM:617695
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Cerebellar vermis a... ORPHA:248111
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Hypertonia, Distal sen... OMIM:609260
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Paroxysmal dyskinesia, Falls, Chorea, Inappropriate laughter, Ataxia, Dystonia, Motor stereotypy,... OMIM:619150
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Clinodactyly of the 5th finger, Tremor, Bilateral sensorineural hearing impairment... OMIM:619422
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... OMIM:614817
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Decreased circulating IgA level, Reduced natural killer cell cou... OMIM:242860
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Recurrent infections, Abnormal pinna morphology, Incoordination, Stereotypical han... OMIM:614104
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Cerebellar atrophy, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Tremor, Cerebellar atrophy, Low-set ears, Macrotia, Fai... OMIM:620546
Ethanolaminosis
Cardiomegaly OMIM:227150
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Developmental And Epileptic Encephalopathy 97
Ventriculomegaly, Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count, Lymphoproliferative disorder OMIM:609981
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Acute Interstitial Pneumonia
Atelectasis, Peribronchovascular interstitial thickening, Pleural effusion, Bronchiectasis, Hypox... ORPHA:79126
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Pneumocystosis
Respiratory failure requiring assisted ventilation, Acute infectious pneumonia, Respiratory insuf... ORPHA:723
Mohr-Tranebjaerg Syndrome
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal vestibula... ORPHA:52368
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Vertigo, Cerebellar atrophy, Gait atax... ORPHA:101110
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... ORPHA:35078
Perching Syndrome
Cyanosis OMIM:617055
Drug-Induced Lupus Erythematosus
Hematuria, Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:231111
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia, Dysphagia ORPHA:309169
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Chorea, Abnormality of extrapyramidal motor function, Athetosis, Progressive extra... ORPHA:382
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Christianson Syndrome
Truncal ataxia, Cachexia, Cerebellar atrophy, Gait ataxia, Macrotia, Inappropriate laughter, Dyst... ORPHA:85278
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Respiratory failure ORPHA:266
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Hsd10 Disease
Optic atrophy, Tremor, Gait disturbance, Hearing impairment, Rigidity, Ataxia, Dysphagia, Myoclon... ORPHA:391417
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Dysphagia, Aggressive beha... OMIM:615157
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Renal insufficiency, Increased mean platelet volume... ORPHA:182050
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tre... OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall... OMIM:607317
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Impaired tactile sensation, Tremor, Overfolded helix, Low-set ears, Myoclonus, Gait a... OMIM:619092
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Increased circulating ferritin concentration, Glucose intolerance, Azoos... OMIM:235200
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Petechiae, Interstitial pneumonitis, Vasculitis in the skin, Recurrent upper respiratory... OMIM:620296
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Abnormal circulating cytokine concentration, Anemia, Hemophagocytosis, Incr... ORPHA:540
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Spastic Paraparesis And Deafness
Hearing impairment, Spastic paraparesis, Tremor OMIM:312910
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Squamous cell carcinoma, Increased circulating IgG level, Increased circulating IgE level, Cutane... OMIM:243700
Immunodeficiency 115 With Autoinflammation
Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc... OMIM:620632
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Recurrent respiratory infections, R... OMIM:608647
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy, Brachydactyly DECIPHER:8
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Inability to walk, Tremor, Failure to thrive, Ataxia, Large fleshy ears, Attention de... OMIM:619556
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Jerky head movements, Limb apraxia, Apraxia, Progressive extrapyramidal muscular ri... ORPHA:240103
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612926
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Sensorineural hearing... OMIM:302800
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxi... ORPHA:401901
Congenital Myopathy 14
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in infancy OMIM:618414
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Spasticity, Compulsive behaviors, Cerebral palsy, Phonic tics, Dystonia, Unsteady ... OMIM:301107
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Death in childhood, Respiratory insufficiency... OMIM:620265
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Cerebellar vermis hypoplasia, Hyperactivity, Tremor, Cerebellar atrophy, Gait ... OMIM:618090
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612924
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Sensorineural hearing impairment, Conductive hearing impairment, ... OMIM:610738
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Difficulty walking, Clinodactyly of the 5th finger, Broad-based gait, Cerebellar v... OMIM:617807
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Lower limb spasticity, Hyperactivity, Chorea, Low-set ears, Waddling gait, Impulsivity, Coxa vara... OMIM:620445
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... OMIM:164500
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Shuffling gait, Spast... OMIM:300055
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Tremor, Low-set ears, Ataxia OMIM:618951
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Respiratory insufficiency due to muscle weakness, Neonatal death OMIM:611890
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Cerebellar atrophy, Hearing impairment, Dystonia, Myoclonu... ORPHA:139485
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait disturbance... OMIM:617145
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp... OMIM:619846
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Ataxia, Abnormal head movements, Torticollis ORPHA:71518
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Macrotia, Hyperactivity, Clinodactyly OMIM:300928
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneumonia ORPHA:90117
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Cerebellar atrophy, Impulsivity, Oppositional defiant disorder, At... OMIM:619028
4Q21 Microdeletion Syndrome
Tremor, Low-set ears, Micromelia, Hearing impairment, Short palm, Toe syndactyly, Motor stereotyp... ORPHA:238750
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Intraalveolar phospholipid accumulation, Hypoxemia, Pneumonia, Recurrent respirator... OMIM:610910
Stxbp1-Related Encephalopathy
Inability to walk, Hyperactivity, Spasticity, Tremor, Dystonia, Ataxia, Spastic tetraplegia ORPHA:599373
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Igg4-Related Retroperitoneal Fibrosis
Renal tubular epithelial necrosis, Impotence, Elevated circulating creatinine concentration, Anor... ORPHA:49041
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Cachexia, Tremor, Cerebellar atrophy, Gait ataxia, Dystonia, Ataxia, Dysph... OMIM:618093
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Polyphagia, Episodic hemolytic anemia, Increased blood urea nit... ORPHA:251004
Trichohepatoenteric Syndrome 1
Cholestasis, Pulmonic stenosis, Renal cortical microcysts, Splenomegaly, Jaundice, Hypospadias, I... OMIM:222470
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... OMIM:603553
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Hearing im... ORPHA:101075
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Recurrent respiratory infections ORPHA:2004
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperkinetic movements, Hyperactivity... OMIM:617302
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Immunodeficiency 38 With Basal Ganglia Calcification
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:616126
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Cerebellar atrophy, Gait ata... OMIM:615362
Pseudoachondroplasia
Short long bone, Flat acetabular roof, Hypoplastic pelvis, Metaphyseal irregularity, Shortening o... ORPHA:750
Hyperekplexia 4
Respiratory failure, Umbilical hernia OMIM:618011
Specific Granule Deficiency 2
Sepsis, Recurrent otitis media, Sandal gap, Abnormal pinna morphology, Low-set ears, Failure to t... OMIM:617475
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Abnormality of pain sensation, Tremor, Anteverted ears, Recurrent han... ORPHA:544254
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Optic atrophy, Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Impa... ORPHA:137898
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Tremor, Gait disturbance, Kinetic tremor, Ventriculomegaly OMIM:611808
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Hammertoe, Tremor, Cerebellar atrophy, Gait ataxia, Ata... OMIM:618387
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Agitation, Tremor, Compulsive behaviors, Failure to thrive, Dystonia, Myoclonus OMIM:619651
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Hypertonia, Spasticity, Tremor, Rigidity, Ataxia, Cerebellar hypoplasia, Recurrent... ORPHA:33445
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Vertigo, Tongue fasciculations, T... ORPHA:276198
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Unsteady gait... OMIM:615768
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall... OMIM:611302
Spinocerebellar Ataxia 50
Apraxia, Cerebellar vermis atrophy, Chorea, Cerebellar atrophy, Head tremor, Hearing impairment, ... OMIM:620158
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Genu valgum, Ulnar deviated club hands, Arthralgia of ... ORPHA:166002
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Decreased libido, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatocellula... ORPHA:465508
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Hepatomegaly, Decreased circulating carnitine concentration, Microvesicula... OMIM:212140
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Spasticity, Tremor, Low-set ears, Motor stereotypy, Self-injuri... OMIM:618718
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Cardiomyopathy, Dilated, 2H
Neonatal death, Cardiorespiratory arrest OMIM:620203
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial infections OMIM:308220
Intellectual Developmental Disorder, X-Linked 12
Hip subluxation, Hyperkinetic movements, Cerebellar vermis hypoplasia, Sensorineural hearing impa... OMIM:300957
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Syndromic Diarrhea
Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Atrial septal de... ORPHA:84064
Behr Syndrome
Optic atrophy, Babinski sign, Cerebellar vermis atrophy, Truncal ataxia, Tremor, Cerebellar atrop... OMIM:210000
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Aggressive behavior, Sandal gap, Hyperactivity, Cerebellar vermis atrophy, Abnormal pinna morphol... OMIM:300354
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death OMIM:601612
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Joint contracture of the 5th finger, Hyperactivity, Spasticity, Low-set ears, Compuls... ORPHA:352490
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Tremor, Gait disturbance, Cerebellar dysplasia, Macrotia, Upper limb spas... ORPHA:457240
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fail... OMIM:245400
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Cerebellar atrophy, Gait d... ORPHA:98762
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure... OMIM:154230
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Compulsive behaviors, Addictive alcohol use, Myoclonus OMIM:159900
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetrapar... OMIM:615924
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Tremor, Gait disturbance, Hip dysplasia, Decreased motor n... ORPHA:101077
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... ORPHA:221139
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Cachexia, Progressive hearing impairment, Tremor, Facial palsy... ORPHA:97229
Bernard-Soulier Syndrome
Giant platelets, Menorrhagia, Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induce... OMIM:231200
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Recurrent candida infections, Recurrent Staphylococcus aureus infections, Scl... ORPHA:572
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Cerebellar vermis atrophy, Incoordination, Tremor, Spasticity, Gait ataxia, Dilated ... OMIM:213200
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Oculomotor apraxia, Cerebellar atrophy, Arachnodactyly, Rigidity, Dysphagia, Adducted thumb, Impa... ORPHA:412057
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Hearing i... ORPHA:101078
Charcot-Marie-Tooth Disease And Deafness
Steppage gait, Distal sensory impairment, Hammertoe, Sensorineural hearing impairment, Tremor, Sp... OMIM:118300
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, B lymphocytopenia, Pancytopenia OMIM:620133
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Recurrent infections, Hyperactivity, Aggressive behavior OMIM:248510
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Thickened ears, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Necrotizing enterocolitis, Sh... OMIM:616809
Primary Pulmonary Hypoplasia
Pneumothorax, Cyanosis, Recurrent respiratory infections, Hypoxemia, Pulmonary hypoplasia, Neonat... ORPHA:2257
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory insufficienc... ORPHA:254875
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory failure OMIM:614399
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin... OMIM:210250
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Hemolytic-uremic syndrome, Reticulocytosis, Microscopic hematuria, Prolonged neonatal j... OMIM:274150
Pelger-Huet Anomaly
Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Failure to thr... OMIM:169400
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Death in infancy OMIM:616277
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia, Obesity, Congenital hypothyroidism ORPHA:88643
Pelizaeus-Merzbacher Disease
Optic atrophy, Generalized dystonia, Inability to walk, Writer's cramp, Broad-based gait, Cerebel... OMIM:312080
Smith-Magenis Syndrome
Abnormal middle ear morphology, Abnormal nerve conduction velocity, Hyperactivity, Head-banging, ... OMIM:182290
7Q31 Microdeletion Syndrome
Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Clinodactyly of the 2... ORPHA:251061
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Tremor, Adult ... ORPHA:1368
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Sensorineural hearing impairment, Tremor, Low-set ears, Decreased body weight, Att... OMIM:618342
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Abnormal blood gas level, Hypoxemia, Pneumonia, Respiratory failure ORPHA:70578
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Hyperactivity, Spastic tetraparesis, Impulsivity, Failure to thrive, Micrognathia, He... OMIM:604317
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Distal Deletion 10Q
Inferior cerebellar vermis hypoplasia, Sandal gap, Oculomotor apraxia, Prominent fingertip pads, ... ORPHA:96148
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hyperactivity, Tetraplegia, Cerebellar atrophy, Hearing impairment, Failure to thr... ORPHA:369939
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Failure to thrive, Splenomegaly, Conjug... OMIM:269920
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Hypoxemia, Diffuse alveolar hemorrhage, Pneumonia, Re... ORPHA:178320
Fragile X Tremor/Ataxia Syndrome
Obsessive-compulsive trait, Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadoc... OMIM:300623
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:611926
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Dysphagia, Loss of ambulatio... OMIM:617916
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Pericardial effusion, Failure to th... OMIM:614702
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Tongue fasciculations, Tremor, Facial palsy, Frequent falls, Dysphagia, Myocl... OMIM:159950
Chromosome 2Q37 Deletion Syndrome
Type E brachydactyly, Hyperactivity, Sensorineural hearing impairment, Short metacarpal, Stereoty... OMIM:600430
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar ... OMIM:614831
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Sp... OMIM:608233
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Ataxia, Myoclonus OMIM:616187
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Episodic Ataxia Type 4
Vertigo, Incoordination, Frequent falls, Ataxia, Abnormal head movements ORPHA:79136
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Bradykinesia, Tremor, Cerebellar atrophy, Abnormal autonomic nervous system physio... ORPHA:329284
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Intellectual Developmental Disorder, Autosomal Recessive 61
Babinski sign, Hyperactivity, Spasticity, Prominent fingertip pads, Low-set ears, Clonus, Long fi... OMIM:617773
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Limb hypertonia, Hyperactivity, Chorea, Abnormality of extrapyramidal motor fu... ORPHA:500180
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent bronchitis, Failu... OMIM:613501
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Sensorineural hearing impairment, Impaired distal vibration sensation, Abnormal aut... ORPHA:99027
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Increased mean platelet... OMIM:617443
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ... OMIM:300291
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase... OMIM:235400
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Cardiomegaly, Failure to thriv... ORPHA:858
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Chronic otitis media, Prominent protruding coccyx, Oral-pharyngeal dysphagia, Tremor, Low-set ear... ORPHA:480907
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Recurrent otitis media, Hyperactivity, Spasticity, Failure to thrive, Ventriculomegaly, Aggressiv... OMIM:615286
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi... ORPHA:36238
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
13Q12.3 Microdeletion Syndrome
Chronic otitis media, Hyperactivity, Impaired pain sensation, Camptodactyly, Atopic dermatitis, H... ORPHA:412035
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Spasticity, Cerebellar atrophy, Compulsive behaviors, Stereotypical ha... OMIM:618917
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Cerebellar atrophy, Poor fine motor coordination, Myoclonic spasms, D... ORPHA:79263
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Anemia, Elevated circulating creatinine concentration, Retrograde ejaculation, ... ORPHA:230
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Increased cir... ORPHA:169154
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypoglycemia, Elevated circulating cr... OMIM:600649
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:153670
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Respiratory failure, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:616867
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Orthostatic Hypotension 1
Neonatal hypoglycemia, Retrograde ejaculation, Reduced circulating prolactin concentration, Incre... OMIM:223360
48,Xxyy Syndrome
Chronic otitis media, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Recurrent res... ORPHA:10
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progressive gait ataxia, Dysmetria