Gene Summary

Name:
BCL2-associated transcription factor 1
Synonyms:
2700025J07Rik,  2810454G14Rik,  2610102K23Rik,  5730534O06Rik

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
cyanosis Bclaf1tm1b(EUCOMM)Wtsi HOM E18.5 0.00
abnormal lens morphology Bclaf1tm1b(EUCOMM)Wtsi HET Early adult 8.26×10-06
preweaning lethality, complete penetrance Bclaf1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
hyperactivity Bclaf1tm1b(EUCOMM)Wtsi HET   Early adult 4.82×10-05

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
Kidney  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Uterus  Section images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem 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)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote Not available
Pancreas 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)
Pituitary gland 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)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Urinary bladder 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
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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

11 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Sleep Wake

Wake state (bmp file)

2 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Forepaw

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Gross Morphology Embryo E18.5

Images

4 Images

Adult LacZ

LacZ Images Section

6 Images

Electroretinography 2

Rod and cone PDF

4 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Bclaf1 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 Bclaf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cataract ORPHA:1397
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Recurrent respiratory infections, Defective T cell ... OMIM:615615
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent bronchitis, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:312863
Immunodeficiency 8
Hyperactivity OMIM:615401
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia, Cataract OMIM:617133
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Bronchiectasis, Increased circula... OMIM:618982
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Syndactyly, Upper limb phocomelia, Abnormal lung morphology, Abnormal hi... ORPHA:294975
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation... OMIM:617241
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Immunodeficiency 17
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Autoimmune hemoly... OMIM:615607
Breath-Holding Spells
Cyanosis OMIM:607578
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Trichomegaly
Cataract OMIM:190330
Cd8 Deficiency, Familial
Recurrent respiratory infections, Absence of CD8-positive T cells, Bronchiectasis OMIM:608957
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Increased circulating IgA level, Decreased lymphocyte proliferation in response to m... ORPHA:169154
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Cholesterol Pneumonia
Cyanosis OMIM:215030
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Apnea, Central Sleep
Cyanosis OMIM:207720
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased proportion of class-switched memory B cells, Reduced natural ki... OMIM:615559
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Bronchiectasis, Increased circulating IgA... OMIM:618534
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Morm Syndrome
Hyperactivity, Cataract ORPHA:75858
Immunodeficiency 13
B lymphocytopenia, Bronchiectasis, Bronchiolitis obliterans organizing pneumonia, Recurrent upper... OMIM:615518
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Recurrent bronchitis, Decreased ... OMIM:300853
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis OMIM:238700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Cataract 47
Microcornea, Cataract OMIM:612018
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... OMIM:618167
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Pneumonia, Neutropenia ... OMIM:607594
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Broad ischia, Decreased circulating antibody level, Decreased circulat... ORPHA:508533
Aniridia 2
Aniridia, Cataract OMIM:617141
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased circula... OMIM:607271
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Pellagra-Like Syndrome
Ataxia, Cataract OMIM:260650
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Recurrent uppe... ORPHA:70593
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Recurrent upper and lower r... ORPHA:911
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cataract ORPHA:3233
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Chronic bronchitis, Neutropenia, Leukopenia, Partial absence of specific antib... OMIM:618986
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... OMIM:267500
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
X-Linked Lymphoproliferative Disease
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... ORPHA:2442
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Clinodactyly, Polydactyly, Postaxial polydactyly OMIM:615984
Buerger Disease
Acrocyanosis ORPHA:36258
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... OMIM:300400
Bardet-Biedl Syndrome 9
Polydactyly, Polyphagia, Postaxial polydactyly, Polydipsia, Syndactyly, Postaxial foot polydactyl... OMIM:615986
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hyperactivity OMIM:248510
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Proximal Myotonic Myopathy
Cataract ORPHA:606
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Finger syndactyly, Genu valgum, Brachydactyly, ... ORPHA:65759
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... ORPHA:331206
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly, Polyphagia OMIM:617119
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Decreased circulat... OMIM:601495
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... OMIM:618394
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Genu valgum, Sandal ... OMIM:617927
Selective Igm Deficiency
Decreased specific antibody response to vaccination, Neutropenia in presence of anti-neutropil an... ORPHA:331235
Cataract 43
Subcapsular cataract OMIM:616279
Orofaciodigital Syndrome Viii
Syndactyly, Recurrent aspiration pneumonia, Polydactyly, Short tibia OMIM:300484
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Bronchiectasis, Decreased circulating antibody level, Reduced natural killer c... OMIM:618108
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Tricuspid Atresia
Cyanosis ORPHA:1209
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Synpolydactyly 2
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Bronchiectasis, Recurrent bronchopulmonary infections, Aplasia of the... OMIM:242700
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Phenylketonuria
Blue irides, Hyperactivity, Attention deficit hyperactivity disorder, Cataract OMIM:261600
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level, Polydactyly, Hypoplastic ischia OMIM:616910
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Orofaciodigital Syndrome Vi
Toe syndactyly, Postaxial polydactyly, Radial deviation of finger, Brachydactyly, Central Y-shape... OMIM:277170
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Ivic Syndrome
Leukocytosis, Upper limb undergrowth, Hypoplasia of the ulna, Triphalangeal thumb, Short clavicle... OMIM:147750
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Decrease... OMIM:600802
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Short long bone, Brachydactyly, Postaxial polydactyly OMIM:615633
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metacarpal, Short di... OMIM:617102
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Pneumonia, Decreased circulating IgA level, Abnormal immun... ORPHA:276
Bardet-Biedl Syndrome 17
Polydactyly, Polydipsia, Mesoaxial polydactyly, Postaxial foot polydactyly, Postaxial hand polyda... OMIM:615994
Pelger-Huet Anomaly
Upper limb undergrowth, Short 3rd metacarpal, Neutropenia, Short 5th metacarpal, Polydactyly, Hyp... OMIM:169400
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Mu-Heavy Chain Disease
Increased circulating antibody level, Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... ORPHA:2378
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Pneumonia, Decreased circulating IgA level, Reduced red cell adenosine deamina... OMIM:102700
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies... ORPHA:231154
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Mesomelic leg shortening, Polysyndactyly of hallux, Metatarsa... ORPHA:2756
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... ORPHA:572
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Iris hypopigmentation, Broad-based gait ORPHA:411515
Pgm3-Cdg
Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD3-po... ORPHA:443811
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia, Hypoplastic scapulae, Postaxial polydactyly, Polydactyly, Bowing of the lon... OMIM:614091
Lymphoproliferative Syndrome 1
Leukopenia, Decreased circulating IgG level, Decreased circulating antibody level, Anemia, Spleno... OMIM:613011
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Orofaciodigital Syndrome Xvii
Polydactyly, Partial duplication of thumb phalanx, Central Y-shaped metacarpal, Clubbing of finge... OMIM:617926
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Syndactyly, Polydactyly OMIM:602501
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides, Hyperactivity, Unsteady gait OMIM:615516
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Mend Syndrome
2-3 toe syndactyly, Polydactyly, Long fingers, Overlapping fingers, Overlapping toe OMIM:300960
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis ORPHA:70587
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... ORPHA:35078
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia OMIM:609425
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Postaxial polydactyly, Hypoplasia of the radius, Syndactyly, Pulmonary hypoplasia, Micromelia, Br... OMIM:617895
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Polydactyly, Talipes equinovarus OMIM:613885
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry ORPHA:231140
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Joubert Syndrome 18
Polydactyly, Camptodactyly OMIM:614815
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Postaxial polydactyly, Short long bone, Preaxial polydactyly, Brachydactyly, Syndactyly, Femoral ... OMIM:615503
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly OMIM:617127
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Nephronophthisis 15
Polydactyly OMIM:614845
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Au-Kline Syndrome
Deep palmar crease, Hip dysplasia, Overlapping toe, Postaxial polydactyly OMIM:616580
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Hyperopic astigmatism ORPHA:397973
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Clinodactyly of the 5th finger, Complete duplication of the 1st metatarsal, Preaxial polydactyly OMIM:129540
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... ORPHA:221139
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Recurrent upper respiratory tract infections, Decreased proportion of CD4-positive he... ORPHA:66628
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Immunodeficiency 22
Recurrent respiratory infections, Decreased proportion of CD4-positive helper T cells OMIM:615758
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal eating behavior, Postaxial polydactyly ORPHA:544254
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyly, Hand polyda... OMIM:258860
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Recurrent upper respiratory tract infections, Decreased proportion of CD4-positive he... ORPHA:179494
Asbestos Intoxication
Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Suleiman-El-Hattab Syndrome
Polydactyly, Recurrent respiratory infections, Clinodactyly, Brachydactyly, Single transverse pal... OMIM:618950
Choanal Atresia
Recurrent respiratory infections, Choking episodes, Polydactyly ORPHA:137914
Acromelic Frontonasal Dysostosis
Syndactyly, Polydactyly, Talipes equinovarus, Preaxial polydactyly OMIM:603671
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Gand Syndrome
Hyperactivity OMIM:615074
Nevus Comedonicus Syndrome
Toe syndactyly, Preaxial polydactyly, Finger syndactyly ORPHA:64754
Hydrolethalus Syndrome 2
Preaxial polydactyly, Postaxial polydactyly OMIM:614120
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Joubert Syndrome 23
Polydactyly OMIM:616490
Biemond Syndrome Type 2
Preaxial polydactyly ORPHA:141333
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Hyperactivity, Corneal ulceration, Opacification of the corneal stro... OMIM:256800
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
20P13 Microdeletion Syndrome
Clinodactyly, Polydactyly, Brachydactyly, Finger syndactyly ORPHA:313781
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Bilateral talipes equinovarus, Preaxial polydactyly, Overlapping fingers, Postaxial polydactyly OMIM:618142
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Syndactyly, Abnormal pelvis bone morphology, Short long bone, Flat ace... ORPHA:1505
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly OMIM:615761
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Retinitis Pigmentosa 89
Hepatosplenomegaly, Postaxial polydactyly OMIM:618955
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Bardet-Biedl Syndrome 8
Polydactyly OMIM:615985
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Postaxial polydactyly, Decreased specific anti-polysaccharide antibody ... OMIM:614576
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Histidinemia
Hyperactivity ORPHA:2157
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Urticaria, Erythema, Purpura ORPHA:343
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk OMIM:618718
Joubert Syndrome 15
Polydactyly OMIM:614464
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Joubert Syndrome 16
Polydactyly OMIM:614465
Ataxia-Telangiectasia
Bronchiectasis, Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defective B ... OMIM:208900
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Short 5th finger, Syndactyly, Clinodactyly of the 5th finger, Ectrodactyly ORPHA:397590
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Radial bowing, Postaxial polydactyly, Ulnar bowing, Preaxial polydactyly, Hyp... OMIM:617866
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
Endocrine-Cerebroosteodysplasia
Polydactyly, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the hand, ... OMIM:612651
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis ORPHA:79126
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Bardet-Biedl Syndrome 3
Brachydactyly, Postaxial polydactyly OMIM:600151
3P25.3 Microdeletion Syndrome
Postaxial polydactyly, Tapered finger, Congenital pseudoarthrosis of the clavicle, Proximal place... ORPHA:435638
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Polydactyly OMIM:301022
Otopalatodigital Syndrome Type 2
Fibular aplasia, Tarsal synostosis, Flared iliac wing, Bowing of the long bones, Synostosis of ca... ORPHA:90652
Criss-Cross Heart
Cyanosis ORPHA:1461
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Primary Pulmonary Hypoplasia
Hypoxemia, Cyanosis ORPHA:2257
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia OMIM:271980
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Gait ataxia, Ataxia, Limb dystonia ORPHA:363400
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly OMIM:607361
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Dravet Syndrome
Cyanotic episode ORPHA:33069
Chromosome 3Pter-P25 Deletion Syndrome
Tapered finger, Postaxial polydactyly OMIM:613792
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk ORPHA:1929
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis ORPHA:860
Atrioventricular Septal Defect 3
Cyanosis OMIM:600309
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Congenital Sialidosis Type 2
Hepatosplenomegaly, Respiratory tract infection, Polydactyly ORPHA:93400
Joubert Syndrome 7
Postaxial hand polydactyly, Postaxial polydactyly OMIM:611560
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Hyperactivity OMIM:614613
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Joubert Syndrome 17
Syndactyly, Polydactyly OMIM:614615
Aicardi-Goutieres Syndrome 1
Petechiae, Erythema, Acrocyanosis, Purpura, Prolonged neonatal jaundice OMIM:225750
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Adnp Syndrome
2-3 toe syndactyly, Polydactyly, Polyphagia, Abnormality of toe, Abnormality of finger, Sandal ga... ORPHA:404448
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Chondrodysplasia Punctata 2, X-Linked Dominant
Tarsal stippling, Polydactyly, Postaxial polydactyly, Epiphyseal stippling, Stippled calcificatio... OMIM:302960
Meckel Syndrome, Type 2
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly OMIM:603194
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Tarp Syndrome
Talipes equinovarus, Rocker bottom foot, Postaxial polydactyly, Finger syndactyly, Short sternum,... ORPHA:2886
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ... ORPHA:101096
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait OMIM:300958
Sepsis In Premature Infants
Cyanosis, Purpura, Petechiae, Jaundice ORPHA:90051
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Tetrasomy 5P
Cyanosis ORPHA:3309
Tarp Syndrome
Talipes equinovarus, Postaxial polydactyly, Hypoplasia of the radius, Short sternum, Cutaneous sy... OMIM:311900
Fragile X Syndrome
Hyperactivity OMIM:300624
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Joubert Syndrome 32
Postaxial polydactyly OMIM:617757
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Polydactyly, Aspiration pneumonia ORPHA:314655
Double Outlet Right Ventricle
Cyanosis ORPHA:3426
Pulmonary Arteriovenous Malformation
Telangiectasia, Hypoxemia, Cyanosis ORPHA:2038
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Myoclonic-Astatic Epilepsy
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia ORPHA:1942
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Triphalangeal thumb, Pectoralis hypoplasia, Hypoplasia of the radius... OMIM:607323
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis ORPHA:159
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Opacification of the corneal stroma, Ataxia OMIM:601853
X-Linked Creatine Transporter Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:52503
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis OMIM:265120
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Cyanosis ORPHA:555874
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Meckel Syndrome, Type 10
Postaxial polydactyly OMIM:614175
Meier-Gorlin Syndrome 7
2-3 toe syndactyly, Aplasia/Hypoplasia of the patella, Bowing of the legs, Clubbing, Preaxial pol... OMIM:617063
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Hyperactivity, Inability to walk, Ataxia, Astigmatism ORPHA:168491
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Proximal femoral metaphyseal irregularity, Abnormal acetabulum morphology, Recurrent aspiration p... ORPHA:397715
Congenital Myasthenic Syndrome
Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98914
Rhombencephalosynapsis
Complete duplication of thumb phalanx, Short phalanx of finger, Polydactyly, Finger syndactyly ORPHA:59315
Cardioacrofacial Dysplasia 1
Limb undergrowth, Genu valgum, Postaxial polydactyly OMIM:619142
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Postaxial polydactyly, Rhizomelia, Preaxial polydactyly, Pulmonary hypoplasia, Flat acetabular ro... OMIM:616300
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Tapered finger, Postaxial polydactyly, Small hand, Hip dislocation, Short foot, Hip dysplasia, Re... OMIM:300968
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait ORPHA:35069
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Broad distal phalanx of finger, Postaxial foot polydactyly, Postaxial polydac... ORPHA:404440
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Pulmonary hypoplasia, Postaxial polydactyly, Neonatal death, Fibular hypoplasia, Preaxial polydac... OMIM:617925
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Preaxial polydactyly, Pulm