Gene Summary

snail family zinc finger 2
Slugh,  Slug,  Snail2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
preweaning lethality, incomplete penetrance Snai2tm1.1(KOMP)Vlcg HOM   Early adult 0.00
enlarged heart Snai2tm1.1(KOMP)Vlcg HET Early adult 0.00

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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 marrow  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Mesenteric lymph node  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  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 100% (2 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue 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
Heart atrium N/A heterozygote 0.0% (0 of 3)
Axial skeleton N/A heterozygote 100% (3 of 3)
Brain N/A heterozygote Ambiguous
Central nervous system ganglion N/A heterozygote 0.0% (0 of 3)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 3)
Ear N/A heterozygote 100% (3 of 3)
Embryo N/A heterozygote 100% (3 of 3)
Outer ear N/A heterozygote 100% (3 of 3)
Eye N/A heterozygote 0.0% (0 of 3)
Footplate N/A heterozygote 100% (3 of 3)
Forearm N/A heterozygote 100% (3 of 3)
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote 100% (3 of 3)
Fronto-nasal process N/A heterozygote 100% (3 of 3)
Gut N/A heterozygote 100% (3 of 3)
Handplate N/A heterozygote 100% (3 of 3)
Head mesenchyme N/A heterozygote 100% (3 of 3)
Head N/A heterozygote 100% (3 of 3)
Heart ventricle N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote 0.0% (0 of 3)
Hindbrain N/A heterozygote 0.0% (0 of 3)
Hindlimb N/A heterozygote 100% (3 of 3)
Intestine N/A heterozygote 100% (3 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower leg N/A heterozygote 100% (3 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Mandibular process N/A heterozygote 100% (3 of 3)
Maxillary process N/A heterozygote 66.67% (2 of 3)
Meckel's cartilage N/A heterozygote 33.33% (1 of 3)
Midbrain N/A heterozygote 0.0% (0 of 3)
Nasal septum N/A heterozygote 0.0% (0 of 3)
Nose N/A heterozygote 100% (3 of 3)
Notochord N/A heterozygote 0.0% (0 of 3)
Oral cavity N/A heterozygote 100% (3 of 3)
Outflow tract N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
Chorioallantoic placenta N/A heterozygote Not available
Skeleton N/A heterozygote 100% (3 of 3)
Skin N/A heterozygote 100% (3 of 3)
Spinal cord N/A heterozygote 33.33% (1 of 3)
Tail somite N/A heterozygote 100% (3 of 3)
Tail N/A heterozygote 0.0% (0 of 3)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 33.33% (1 of 3)
Upper arm N/A heterozygote 100% (3 of 3)
Upper leg N/A heterozygote 0.0% (0 of 3)
Vibrissa N/A heterozygote 100% (3 of 3)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.77% (4 of 517)
aorta 0.19% (1 of 522)
blood 0.0%
bone marrow 0.0%
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cecum 3.37% (11 of 326)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
chest bone Unavailable
colon 10% (11 of 110)
diaphragm 0.0%
duodenum 1.87% (2 of 107)
epididymis 12.39% (14 of 113)
esophagus 1.41% (5 of 354)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.2% (1 of 510)
hindlimb 0.0%
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
ileum 11.3% (13 of 115)
jejunum 3.81% (4 of 105)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.2% (1 of 512)
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.21% (1 of 480)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
stomach pyloric region 0.0%
striatum 0.39% (2 of 510)
sublingual gland 0.0%
submandibular gland 0.85% (1 of 117)
testis 0.98% (5 of 511)
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
tongue 4.72% (5 of 106)
trachea 0.59% (3 of 510)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.48% (12 of 345)
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)
atrium 2.22% (1 of 45)
axial skeleton 1.92% (1 of 52)
brain 1.5% (6 of 400)
central nervous system ganglion 1.72% (1 of 58)
dorsal root ganglion 2.13% (1 of 47)
ear 0.26% (1 of 392)
embryo 0.0%
external ear 1.82% (1 of 55)
eye 0.26% (1 of 392)
footplate 0.25% (1 of 397)
forearm 0.43% (1 of 232)
forebrain 0.0%
forelimb 0.25% (1 of 399)
fronto-nasal process 2.17% (1 of 46)
gut 2.17% (1 of 46)
handplate 0.25% (1 of 404)
head 1.04% (4 of 383)
head mesenchyme 0.0%
heart 0.25% (1 of 403)
heart ventricle 0.0%
hindbrain 1.22% (5 of 410)
hindlimb 0.0%
intestine 2.33% (1 of 43)
liver 0.0%
lower leg 0.39% (1 of 255)
lung 0.26% (1 of 389)
mandibular process 0.26% (1 of 391)
maxillary process 0.0%
meckel's cartilage 0.0%
midbrain 0.25% (1 of 401)
nasal septum 1.89% (1 of 53)
nose 1.56% (1 of 64)
notochord 1.92% (1 of 52)
oral cavity 0.24% (1 of 415)
outflow tract 1.96% (1 of 51)
pericardium 0.0%
placenta 15.15% (5 of 33)
skeleton 0.0%
skin 0.25% (1 of 396)
spinal cord 1.79% (1 of 56)
tail 0.0%
tail somite group 0.25% (1 of 401)
thoracic vertebral cartilage condensation 0.0%
trunk mesenchyme 2.08% (1 of 48)
upper arm 0.41% (1 of 245)
upper leg 0.0%
vibrissa 0.0%

Associated Images

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

Adult LacZ

LacZ Images Section

160 Images

Human diseases caused by Snai2 mutations

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

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

The table below shows human diseases predicted to be associated to Snai2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Cleft palate OMIM:119550
Cardiomegaly OMIM:227150
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Van Der Woude Syndrome 2
Anodontia, Cleft upper lip, Cleft palate OMIM:606713
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Azoospermia, Splenomegaly, Growth delay, Anemia, Decreased mean corpuscular volum... OMIM:615234
Sea-Blue Histiocytosis
Blepharitis, Hypopigmentation of the skin, Splenomegaly, Hyperpigmentation of the skin, Mediastin... ORPHA:158029
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Phosphoglycerate Dehydrogenase Deficiency
Hypertonia, Developmental cataract, Spastic tetraplegia, Megaloblastic anemia, Growth delay, Thro... OMIM:601815
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Clouston Syndrome
Small nail, Blepharitis, Brittle hair, Absent pubic hair, Cataract, Sparse eyebrow, Nail dysplasi... OMIM:129500
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Flotch Syndrome
Blepharitis, Inflammatory abnormality of the eye, Abnormal eyelash morphology, Sparse eyelashes, ... ORPHA:2045
Wolfram Syndrome 1
Hypothyroidism, Sideroblastic anemia, Diabetes insipidus, Megaloblastic anemia, Ataxia, Ptosis, T... OMIM:222300
Diamond-Blackfan Anemia 17
Anemia, Hyperpigmentation of the skin OMIM:617409
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Poikiloderma With Neutropenia
Recurrent otitis media, Blepharitis, Leukopenia, Recurrent pneumonia, Sparse lateral eyebrow, Ret... OMIM:604173
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Hyperactivity, Growth delay, Downslanted palpebral fissures, Short stature, Macro... OMIM:614294
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Short stature, Abnormal hemoglobin, Melanocytic nevus, Thrombocytopenia ORPHA:3319
Refractory Anemia
Bone marrow hypocellularity, Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Lymphadenopathy, Thrombocytopenia, Conjuncti... OMIM:603552
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Dyskeratosis Congenita, X-Linked
Pancytopenia, Blepharitis, Pterygium, Cryptorchidism, Pterygium of nails, Anemia, Reticulated ski... OMIM:305000
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Adrena... OMIM:619151
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Abnormality of skin pigmentation, Infertility OMIM:300719
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Septic arthritis, Eczema... OMIM:617780
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Downslanted palpebral fissures, Sparse eyelashes, Macrocytic anemia OMIM:300946
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Cartilage-Hair Hypoplasia
Fair hair, Neonatal short-limb short stature, Congenital hypoplastic anemia, Sparse eyebrow, Fine... OMIM:250250
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Ab... ORPHA:86841
Deafness, Congenital, With Total Albinism
Albinism, Hypogonadism OMIM:220900
Hyperlysinemia, Type I
Anemia, Hyperactivity, Ectopia lentis OMIM:238700
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia, Chronic oral candidiasis, Conjunctivitis OMIM:616740
Anencephaly 2
Cleft of alveolar ridge of maxilla, Median cleft palate, Median cleft lip OMIM:619452
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Recurrent cutaneous abscess formation, Hypopigmented skin patches... ORPHA:47
Diamond-Blackfan Anemia 8
Growth delay, Neutropenia, Short stature, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Autoimmune Polyendocrinopathy Type 4
Central diabetes insipidus, Aplasia/Hypoplasia of the spleen, Leukopenia, Type I diabetes mellitu... ORPHA:227990
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Macrocytic anemia, Leukopenia, Choreoathetosis, Ataxia, Paraparesis, Anemia, Pancre... ORPHA:27
Dyskeratosis Congenita
Blepharitis, Abnormal morphology of female internal genitalia, Anemia, Diabetes mellitus, Aplasti... ORPHA:1775
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Hashimoto thyroiditis, Vitiligo, Iridocyclitis, Rheumatoid arth... ORPHA:227982
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Mild postnatal growth retardation, Splenomegaly, Anisocytosis, Erythroid hyperpla... OMIM:224120
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patchy alopecia, Blepharitis, Hyperconvex nail, Absent eyelashes, Micropenis, Supernumerary nippl... OMIM:106260
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Blepharitis, Cataract, Sparse eyebrow, Nail dysplasia, Scarring alopecia of scalp, Nail dystrophy... OMIM:612843
Congenital Ptosis
Unilateral ptosis, Unilateral narrow palpebral fissure, Congenital Horner syndrome, Long eyelashe... ORPHA:91411
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Blepharitis, Sparse eyebrow, Sparse eyelashes, Ectropion, Keratitis, Conjunctivitis, Folliculitis OMIM:308800
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:205950
Leukocytosis, Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Cutaneous abscess... ORPHA:3392
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Hemoglobin E Disease
Intrauterine growth retardation, Splenomegaly, Miscarriage, Increased red blood cell count, Abnor... ORPHA:2133
Atopic Keratoconjunctivitis
Blepharitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Keratitis, Abnormal eyelid ... ORPHA:163934
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Partial albinism, Irregular hyperpigmentation, ... ORPHA:998
Juvenile Temporal Arteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Conjunctivitis ORPHA:26137
Lichen Planus Pemphigoides
Hypopigmented streaks, Blepharitis, Conjunctivitis, Abnormality of the nail ORPHA:254478
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Recurrent otitis media, Hypothyroidism, Uveitis, Chronic neutropenia, Autoimmune he... OMIM:614700
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Short stature, Blepharitis, Psoriasiform dermatitis, Delayed puberty OMIM:616834
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Bone Marrow Failure Syndrome 6
Hypothyroidism, Bone marrow hypocellularity, Neutropenia, Anemia, Recurrent sinusitis, Increased ... OMIM:618849
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, B lymphocytopenia, Otitis media,... OMIM:601457
Autosomal Dominant Optic Atrophy, Classic Form
Hypothyroidism, Cataract, Spastic paraplegia, Ataxia, Ptosis, Spasticity, Hemiparesis, Diabetes m... ORPHA:98673
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Hypopigmentation of hair, Partial albinism, Short stature ORPHA:90023
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Granulocytopenia, Sparse eyebrow, Downslanted palpebral fissures, Short stature, Macrocytic anemi... OMIM:606164
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Nail dysplasia, Growth delay, Testicular atrophy, Nail... OMIM:613987
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Accumulation of melanosomes in melanocytes, Hemophagocytosis, Hypopigmentatio... OMIM:607624
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Growth delay OMIM:243320
Olmsted Syndrome, X-Linked
Blepharitis, Posterior blepharitis OMIM:300918
Xeroderma Pigmentosum
Blepharitis, Pterygium, Cryptorchidism, Opacification of the corneal stroma, Melanocytic nevus, K... ORPHA:910
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Growth delay OMIM:229100
Combined Oxidative Phosphorylation Deficiency 18
Dysmetria, Tremor, Intrauterine growth retardation, Macrocytic anemia OMIM:615578
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Glandular hypospadias, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia, Shawl scro... ORPHA:2575
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Albinism, Piebaldism, Partial albinism OMIM:300700
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent pneumonia, Pneumonia, Splenomegaly, Bronchiectasis, Recurrent s... OMIM:607594
Fanconi Anemia, Complementation Group G
Leukemia, Multiple cafe-au-lait spots, Growth delay, Neutropenia, Anemia, Thrombocytopenia OMIM:614082
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Blepharitis, Sparse eyelashes OMIM:618535
Cerebellar Ataxia And Albinism
Albinism, Ataxia, Head tremor OMIM:258300
Diamond-Blackfan Anemia 5
Leukopenia, Hypospadias, Short stature, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia OMIM:612528
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Candidiasis, Familial, 8
Blepharitis, Seborrheic dermatitis OMIM:615527
Ichthyosis, Congenital, Autosomal Recessive 11
Blepharitis, Brittle hair, Pili torti, Corneal opacity, Sparse eyebrow, Curly hair, Sparse hair OMIM:602400
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Eyelid myoclonus, Megaloblastic anemia, Ataxia, Thrombocytopenia OMIM:613839
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia, Cataract, Growth delay, Generalized hypopigmentation OMIM:257790
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes insipidus, Megaloblastic anemia, Neutropenia, Diabetes mellitus, T... OMIM:598500
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Conjunctivitis, B lymphocytopenia, Abnormal T cell m... OMIM:612692
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate ORPHA:2016
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Hypothyroidism, Hepatosplenomegaly, Abnormality of the hypothalamus-pituit... ORPHA:300298
Wt Limb-Blood Syndrome
Pancytopenia, Leukemia, Hypoplastic anemia, Cryptorchidism, Irregular hyperpigmentation, Thromboc... OMIM:194350
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Cryptorchidism, Ataxia, Short stature, Thiamine-responsive megaloblastic an... OMIM:249270
Celiac Disease, Susceptibility To, 1
Infertility, Delayed puberty, Thrombocytosis, Ataxia, Alopecia, Recurrent aphthous stomatitis, Ec... OMIM:212750
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Growth delay, Osteomyelitis, Erythroid hyperplasia, Inflam... OMIM:609628
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Ataxia, Ptosis, Macrocytic anemia OMIM:619046
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Wiskott-Aldrich Syndrome
Microcytic anemia, Blepharitis, Anemia, Otitis media, Abnormal platelet morphology, Hypoplasia of... ORPHA:906
Diamond-Blackfan Anemia 4
Growth delay, Neutropenia, Short stature, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Porphyria, Congenital Erythropoietic
Cholelithiasis, Corneal scarring, Hypopigmentation of the skin, Splenomegaly, Alopecia, Loss of e... OMIM:263700
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Abnormality of the dentition, Thick upper lip vermilion, Thin upper lip vermilion... OMIM:226440
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Recurrent otitis media, Recurrent sinusiti... OMIM:613493
16Q24.3 Microdeletion Syndrome
Upslanted palpebral fissure, Cryptorchidism, Astigmatism, Abnormal hair pattern, Highly arched ey... ORPHA:261250
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Eec Syndrome
Blepharitis, Coarse hair, Inflammatory abnormality of the eye, Thick eyebrow, Sparse eyebrow, Ant... ORPHA:1896
Griscelli Syndrome
Premature graying of hair, Abnormal eyebrow morphology, Leukopenia, Bone marrow hypocellularity, ... ORPHA:381
Congenital Erythropoietic Porphyria
Corneal ulceration, Recurrent bacterial skin infections, Leukopenia, Scleritis, Hypopigmentation ... ORPHA:79277
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Short stature, Thrombocytopenia, Diabetes mellitus ORPHA:49827
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypothyroidism, Primary adrenal insufficiency, Vitiligo, Iridocyclitis, Pigmentary retinopathy, A... OMIM:240300
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Splenomegaly, Anisocytosis, Growth delay, Anemia, Short stature, Erythroid hyperplasi... OMIM:615631
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Methylcobalamin Deficiency Type Cble
Pancytopenia, Intrauterine growth retardation, Neutropenia, Lower limb hypertonia, Increased mean... ORPHA:2169
Blackfan-Diamond Anemia
Developmental cataract, Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia,... ORPHA:124
Muckle-Wells Syndrome
Leukocytosis, Maculopapular exanthema, Recurrent aphthous stomatitis, Short stature, Conjunctival... OMIM:191900
Hepatoerythropoietic Porphyria
Corneal ulceration, Scleritis, Hypopigmentation of the skin, Splenomegaly, Scarring alopecia of s... ORPHA:95159
Ifap Syndrome 2
Posterior blepharitis, Atrichia, Cataract, Angular cheilitis, Nail dystrophy, Keratoconjunctiviti... OMIM:619016
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Cryptorchidism, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Muckle-Wells Syndrome
Uveitis, Arthritis, Splenomegaly, Episcleritis, Recurrent aphthous stomatitis, Anemia, Short stat... ORPHA:575
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Splenomegaly, Ptosis, Anemia, Hypersplenism, Thrombocytopenia, Myoclonus OMIM:610539
Cockayne Syndrome Type 2
Developmental cataract, Uveitis, Intrauterine growth retardation, Cryptorchidism, Limb hypertonia... ORPHA:90322
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Growth delay, Macrocytic anemia OMIM:612561
Folate Malabsorption, Hereditary
Leukopenia, Athetosis, Ataxia, Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:229050
Developmental cataract, Brittle hair, Aplasia/Hypoplasia of the nails, Cryptorchidism, Astigmatis... ORPHA:33364
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Bone Marrow Failure Syndrome 5
Testicular atrophy, Anemia, Short stature, Pure red cell aplasia, Hypogonadism OMIM:618165
Limb-Mammary Syndrome
Aplasia of the uterus, Blepharitis, Primary amenorrhea, Absent lacrimal punctum, Absent nipple, C... ORPHA:69085
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Autism Spectrum Disorder Due To Auts2 Deficiency
Upslanted palpebral fissure, Short palpebral fissure, Repetitive compulsive behavior, Motor stere... ORPHA:352490
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Late-Onset Isolated Acth Deficiency
Eosinophilia, Normocytic anemia, Hashimoto thyroiditis, Vitiligo, Decreased circulating cortisol ... ORPHA:199299
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula OMIM:300850
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Shwachman-Diamond Syndrome
Pancytopenia, Chronic neutropenia, Anemia, Diabetes mellitus, Aplastic anemia, Decreased response... ORPHA:811
Ataxia-Pancytopenia Syndrome
Pancytopenia, Dysmetria, Hypoplastic anemia, Ataxia, Neutropenia, Anemia, Babinski sign, Thromboc... OMIM:159550
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Developmental cataract, Intrauterine growth retardation, Spastic tetraplegia, Megaloblastic anemi... ORPHA:79351
Cockayne Syndrome Type 1
Uveitis, Cryptorchidism, Cataract, Lower limb spasticity, Ataxia, Anemia, Pigmentary retinopathy,... ORPHA:90321
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Blepharitis, Abnormality of the nail, Corneal erosion, Cheilitis, Sh... ORPHA:37
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Uveitis, Arthritis, Conjunctivitis, Skin rash OMIM:120100
Juvenile Xanthogranuloma
Blepharitis, Uveitis, Asymmetry of iris pigmentation, Iritis, Multiple cafe-au-lait spots, Myelop... ORPHA:158000
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia, Poor coordination OMIM:250940
Hypocomplementemic Urticarial Vasculitis
Uveitis, Arthritis, Inflammatory abnormality of the eye, Splenomegaly, Ataxia, Cerebral palsy, Ep... ORPHA:36412
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Holocarboxylase Synthetase Deficiency
Ataxia, Alopecia, Growth delay, Eczema, Keratoconjunctivitis, Perioral eczema, Thrombocytopenia ORPHA:79242
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Zika Virus Disease
Intrauterine growth retardation, Arthritis, Infectious encephalitis, Maculopapular exanthema, Iri... ORPHA:448237
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Lesch-Nyhan Syndrome
Opisthotonus, Choreoathetosis, Megaloblastic anemia, Podagra, Testicular atrophy, Short stature, ... OMIM:300322
Intermediate Generalized Junctional Epidermolysis Bullosa
Abnormality of skin pigmentation, Scarring alopecia of scalp, Anonychia, Sparse body hair, Growth... ORPHA:79402
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Ptosis, Short stature, Nonspheroc... OMIM:611881
Alazami-Yuan Syndrome
Long eyelashes, Cryptorchidism, Thick eyebrow, Hyperactivity, Highly arched eyebrow, Short statur... OMIM:617126
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcytic anemia, Hypochromic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... OMIM:600462
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent pneumonia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, F... OMIM:240500
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Thrombocytopenia, Hemolytic anemia, Genital ulcers, Chorea, Anterior uveitis, Lymphopeni... OMIM:616744
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Kid Syndrome
Onychogryposis, Aplastic/hypoplastic lacrimal glands, Keratitis, Conjunctivitis, Punctate keratit... ORPHA:477
Oslam Syndrome
Abnormality of neutrophils, Short stature, Increased mean corpuscular volume ORPHA:2760
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Chronic neutropenia, Hypoplastic fingernail, Curly eyelashes, ... OMIM:258360
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Short stature, Increased mean corpuscular volume, Abnormal erythrocyte morp... ORPHA:98870
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Multiple unerupted teeth OMIM:183300
Dominant Beta-Thalassemia
Upslanted palpebral fissure, Hypothyroidism, Adrenal insufficiency, Hepatosplenomegaly, Decreased... ORPHA:231226
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Blepharitis, Cryptorchidism, Blue irides, Dacryocystitis, Nail pits, Decreased response to growth... OMIM:604292
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Corneal scarring, Cataract, Nail dysplasia, Growth delay, Nail dystrophy, Anemia, Alopecia, Conju... OMIM:226600
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Infantile Liver Failure Syndrome 1
Anemia, Macrocytic anemia OMIM:615438
Proteus Syndrome
Splenomegaly, Ptosis, Downslanted palpebral fissures, Limbal dermoid, Depigmentation/hyperpigment... OMIM:176920
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Growth delay, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
17Q23.1Q23.2 Microdeletion Syndrome
Blepharitis, Intrauterine growth retardation, Long eyelashes, Shawl scrotum, Highly arched eyebro... ORPHA:261279
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Amenorrhea, Neutropenia, Anemia, Impotence, Hyperpigmentation of t... OMIM:604250
Intellectual Developmental Disorder, X-Linked 109
Intrauterine growth retardation, Hyperactivity, Poor coordination, Recurrent hand flapping, Short... OMIM:309548
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia, Hypogonadotropic hypogonadism, Hypertonia, Primary amenorrhea, Moderate intrau... ORPHA:293967
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Pustule OMIM:614328
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy, Conjunctivitis, Arthritis OMIM:617772
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia, Intrauterine growth retardation ORPHA:1980
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Intrauterine growth retardation, Anisocytosis, Miscarriage... ORPHA:71275
Beta-Thalassemia Major
Upslanted palpebral fissure, Hypothyroidism, Adrenal insufficiency, Hepatosplenomegaly, Decreased... ORPHA:231214
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Vexas Syndrome
Neutrophilic infiltration of the skin, Chondritis of pinna, Arteritis, Inflammatory abnormality o... OMIM:301054
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Fraxe Intellectual Disability
Intrauterine growth retardation, Hyperactivity, Recurrent hand flapping, Short stature, Epicanthu... ORPHA:100973
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity, Increased serum serotonin, Short stature, Epicanthus, Hirsutism ORPHA:85288
Dermatopathia Pigmentosa Reticularis
Abnormal conjunctiva morphology, Reticular hyperpigmentation, Alopecia of scalp, Nail dystrophy OMIM:125595
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Bone marrow hypocellularity, Intrauterine growth retardation, Ataxia, ... ORPHA:3322
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Autosomal Agammaglobulinemia
Sinusitis, Recurrent skin infections, Arthritis, Bronchiectasis, Neutropenia, Osteomyelitis, Hepa... ORPHA:33110
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Delayed puberty, Infectious encephalitis, Prostatit... OMIM:307200
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia, Choreoathetosis, Ptosis, Spasticity, Chorea, Babinski sign OMIM:618451
Diamond-Blackfan Anemia 7
Recurrent otitis media, Intrauterine growth retardation, Growth delay, Neutropenia, Increased mea... OMIM:612562
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Incoordination, Megaloblastic anemia, Neutropenia, Epicanthus, Stomatitis, Thromboc... OMIM:277380
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Blepharitis, Cryptorchidism, Nail dysplasia, Blue irides, Dacryocystitis, Nail pits, Telecanthus,... OMIM:129900
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Premature graying of hair, Leukopenia, Bone marrow hypocellularity, Intrauterine gr... OMIM:613990
Preeclampsia/Eclampsia 1
Thrombocytopenia, Intrauterine growth retardation OMIM:189800
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Brittle hair, Woolly hair, Microcornea, Nail dysplasia, Growth delay, Trichorrhexis n... OMIM:234050
Familial Male-Limited Precocious Puberty
Abnormal hair morphology, Long penis, Acne, Oligospermia, Precocious puberty, Macroorchidism, Mal... ORPHA:3000
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Cryptorchidism, Aplasia/Hypoplasia of the eyebrow, HbH hemoglobin, Downslanted... ORPHA:98791
Premature graying of hair, Hypopigmentation of hair, Polycystic ovaries, Multiple cafe-au-lait sp... ORPHA:100
Chediak-Higashi Syndrome
Hypopigmentation of hair, Leukopenia, Giant neutrophil granules, Hemophagocytosis, Periodontitis,... OMIM:214500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Sea-Blue Histiocyte Disease
Absent axillary hair, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Refractory Celiac Disease
Microcytic anemia, Normocytic anemia, Abnormal spleen physiology, Iron deficiency anemia, Increas... ORPHA:398063
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Hyperactivity, Short stature, Synophrys, Premature ovarian insufficiency, Lymph... ORPHA:391307
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Megaloblastic anemia OMIM:236270
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Splenomegaly, Anemia, Hepatitis... ORPHA:848
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Arthritis, Splenomegaly, Thrombocytopenia, Anemia, Panniculitis, Lymphadenop... OMIM:617591
Intellectual Developmental Disorder, Autosomal Dominant 52
Cryptorchidism, Hyperactivity OMIM:617796
Microcytic anemia, Parkinsonism, Vitiligo, Severe periodontitis, Type II diabetes mellitus, Type ... ORPHA:926
Triosephosphate Isomerase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Chronic hemolytic anemia, Hemolyt... OMIM:615512
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Dermatitis, Atopic
Recurrent skin infections, Cataract, Eczema, Allergic rhinitis, Atopic dermatitis, Keratoconus, C... OMIM:603165
Crouzon Syndrome
Hypopigmented skin patches, Conjunctivitis, Ptosis, Melanocytic nevus, Iris coloboma ORPHA:207
Moebius Syndrome
Hypogonadotropic hypogonadism, Blepharitis, Multiple cafe-au-lait spots, Corneal opacity, Ptosis,... ORPHA:570
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
De Sanctis-Cacchione Syndrome
Choreoathetosis, Severe short stature, Gonadal hypoplasia, Ataxia, Hypermelanotic macule, Scissor... OMIM:278800
Congenital Rubella Syndrome
Intrauterine growth retardation, Abnormality of retinal pigmentation, Cataract, Corneal opacity, ... ORPHA:290
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Leukopenia, Thrombocytopenia, Ocular albinism OMIM:614171
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate ORPHA:2736
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Microcytic anemia, Hypothyroidism, Cataract, Ataxia, Spotty hyperpigmentation, Hypertrichosis, De... ORPHA:324737
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Felty Syndrome
Abnormal lymphocyte morphology, Recurrent pneumonia, Sinusitis, Bone marrow hypocellularity, Sple... ORPHA:47612
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Thrombocytopenia OMIM:166990
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erysipelas, Myositis, Leukocytosis, Uveitis, Orchitis, Arthritis, Peritonitis, Splenomegaly, Hype... ORPHA:32960
H Syndrome
Microcytic anemia, Histiocytosis, Diabetes mellitus, Hypertrichosis, Decreased testicular size, U... ORPHA:168569
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Isochromosomy Yq
Primary gonadal insufficiency, Varicocele, Azoospermia, Decreased testicular size, Male infertili... ORPHA:98798
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short stature, Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias ORPHA:1355
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume, Spastic ataxia OMIM:277410
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Isolated Childhood Apraxia Of Speech
Submucous cleft hard palate, Drooling, High, narrow palate ORPHA:209908
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Severe B lymphocytopenia, Anemia, Erythroderma, Lymphadeno... OMIM:603554
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Premature graying of hair, Leukopenia, Bone marrow hypocellularity, Nail dysplasia,... OMIM:613989
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Erythroid hyperplasia OMIM:237800
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Chilblains, Thrombocytopenia, Spasticity OMIM:610329
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Sinusitis, Recurrent cutaneous abscess formation, Pneumonia, Infl... ORPHA:229717
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypertonia, Hypopigmentation of the skin, At... ORPHA:33445
Insulin-Like Growth Factor I Deficiency
Short stature, Hyperactivity, Intrauterine growth retardation, Ptosis OMIM:608747
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes ORPHA:721
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Recurrent otitis media, Thick eyebrow, Corneal opacity, Downslanted palpebral fissures, Long palp... OMIM:602562
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Sterile arthritis, Hepatosplenomegaly, Thromboc... OMIM:604416
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Heme Oxygenase 1 Deficiency
Chemosis, Thrombocytosis, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Growth dela... OMIM:614034
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Classic Galactosemia
Decreased fertility in females, Incoordination, Action tremor, Primary amenorrhea, Delayed pubert... ORPHA:79239
Thyrocerebrorenal Syndrome
Euthyroid goiter, Nephritis, Myoclonus, Nonprogressive cerebellar ataxia, Thrombocytopenia, Slurr... ORPHA:3327
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hypochromic anemia, Cataract, Ataxia, Abnormality of neutrophils, Short stature, Ocular albinism,... ORPHA:2720
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Eczema, Postnatal growth retardation, Intrauterine growth retardation OMIM:233810
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Niemann-Pick Disease, Type B
Splenomegaly, Anemia, Short stature, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocyt... OMIM:607616
Addison Disease
Primary adrenal insufficiency, Hashimoto thyroiditis, Vitiligo, Thymoma, Premature ovarian insuff... ORPHA:85138
Leukonychia Totalis
Abnormal eyelash morphology, Blepharitis ORPHA:2387
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Cryptorchidism, Hyperactivity, Growth delay, Downslanted palpebral fissures, Pr... ORPHA:3306
Agammaglobulinemia, X-Linked
T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Infectious encephalitis, Prostati... OMIM:300755
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Forsythe-Wakeling Syndrome
Short stature, Thrombocytopenia, Growth delay OMIM:613606
Adult Syndrome
Fair hair, Absent nipple, Nasolacrimal duct obstruction, Nail pits, Eczema, Hypoplastic nipples, ... OMIM:103285
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Cafe-au-lait spot ORPHA:436151
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Lower lip pit, Hypodontia, Lip pit, Cleft pa... ORPHA:888
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Hypopigmentation of the skin, External g... ORPHA:177910
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Neutropenia, Anemia, Short stature, Anemia of inadequate production,... OMIM:614900
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Recurrent otitis media, Irregular menstruation, Episcleritis, Epididymitis, Hy... OMIM:256040
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Sideroblastic anemia, Intention tremor, Clonus, Nonprogressive cerebellar ataxia, Dysd... OMIM:301310
Pontocerebellar Hypoplasia, Type 15
Spastic tetraplegia, Chronic neutropenia, Anemia, Thrombocytopenia, Hypertonia OMIM:619302
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
3-Methylglutaconic Aciduria Type 4
Cataract, Spasticity, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Beta-Thalassemia Intermedia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Hepatosplenomegaly, Leukocytosis, Splenome... ORPHA:231222
Hemochromatosis, Type 2B
Splenomegaly, Secondary amenorrhea, Anemia, Hyperpigmentation of the skin, Hypogonadism OMIM:613313
Spermatogenic Failure 63
Oligospermia, Reduced progressive sperm motility, Male infertility, Decreased testicular size OMIM:619689
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Median cleft lip OMIM:155145
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Thrombocytopenia OMIM:133180
Transketolase Deficiency
Uveitis, Type I diabetes mellitus, Motor stereotypy, Cataract, Secondary amenorrhea, Seborrheic d... ORPHA:488618
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Dyskeratosis Congenita, Autosomal Dominant 1
Premature graying of hair, Bone marrow hypocellularity, Reticular hyperpigmentation, Interstitial... OMIM:127550
Fanconi Anemia, Complementation Group A
Pancytopenia, Abnormality of skin pigmentation, Leukemia, Cryptorchidism, Neutropenia, Anemia, Sh... OMIM:227650
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Eczema, Abnormality of skin pigmentation, Hypertrichosis OMIM:612379
Hemochromatosis, Type 4
Cataract, Osteoarthritis, Anemia, Impotence, Hyperpigmentation of the skin, Diabetes mellitus OMIM:606069
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Abnormal circulating hormone concentration, Abnormality of male internal genita... OMIM:261550
Schimke Immunoosseous Dysplasia
Coarse hair, Intrauterine growth retardation, Astigmatism, Thrombocytopenia, Fine hair, Dispropor... OMIM:242900
Hermansky-Pudlak Syndrome 2
Fair hair, Upslanted palpebral fissure, Recurrent otitis media, Recurrent pneumonia, Hepatospleno... OMIM:608233
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Thrombocytopenia ORPHA:90045
Retinohepatoendocrinologic Syndrome
Maturity-onset diabetes of the young, Infertility, Abnormality of skin pigmentation, Hypothyroidism OMIM:268040
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Hypothyroidism, Ptosis, Neutropenia, Spasticity OMIM:251900
Fanconi Anemia, Complementation Group C
Pancytopenia, Leukemia, Bone marrow hypocellularity, Intrauterine growth retardation, Cryptorchid... OMIM:227645
Transcobalamin Ii Deficiency
Pancytopenia, Ataxia, Neutropenia, Macrocytic anemia, Reticulocytopenia OMIM:275350
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the nail, Blepharitis, Uveitis, Cryptorchidism, Thin eyebrow, Astigmatism, Sclerit... ORPHA:2273
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Menorrhagia, Eczema, Psoriasiform dermatitis, Alopecia, Thrombocyt... OMIM:617443
Cholelithiasis, Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, H... ORPHA:846
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Rhizomelia, Eczema, Anemia, Short stature, Thrombocytopenia OMIM:618116
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Trichothiodystrophy 1, Photosensitive
Small nail, Brittle hair, Pili torti, Microcornea, Cataract, Fine hair, Trichorrhexis nodosa, Nai... OMIM:601675
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis ORPHA:90044
Arthrogryposis, Distal, Type 1C
Narrow mouth, High palate, Bifid uvula, Cleft lip, Pursed lips, Thin vermilion border, Cleft palate OMIM:619110
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia, Intrauterine growth retardation ORPHA:295
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Cogan Syndrome
Leukocytosis, Uveitis, Inflammatory abnormality of the eye, Thrombocytosis, Scleritis, Episclerit... ORPHA:1467
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Nail dysplasia, Neutropenia, Anemia, Fragile nails, ... OMIM:617475
Congenital Disorder Of Glycosylation, Type Iig
Upslanted palpebral fissure, Intrauterine growth retardation, Cryptorchidism, Rhizomelia, Downsla... OMIM:611209
2Q23.1 Microdeletion Syndrome
Generalized hirsutism, Motor stereotypy, Cryptorchidism, Hyperactivity, Hypoplasia of penis, High... ORPHA:228402
48,Xxyy Syndrome
Upslanted palpebral fissure, Infertility, Motor stereotypy, Cryptorchidism, Azoospermia, Tremor, ... ORPHA:10
21Q22.11Q22.12 Microdeletion Syndrome
Small nail, Short palpebral fissure, Recurrent otitis media, Hyperactivity, Nail dystrophy, Downs... ORPHA:261323
Hermansky-Pudlak Syndrome 5
Menorrhagia, Albinism, Thrombocytopenia, Ocular albinism OMIM:614074
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Growth delay, Neutropenia, Anemia, Chorea, Pancreatitis, Hemiplegia/hemiparesis,... ORPHA:289916
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Non-midline cleft lip, Enamel hypoplasia, Cleft soft palate... ORPHA:2919
3-Methylglutaconic Aciduria, Type V
Intrauterine growth retardation, Normochromic microcytic anemia, Cryptorchidism, Nonprogressive c... OMIM:610198
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Fair hair, Upslanted palpebral fissure, Blepharitis, Hyperpigmented/hypopigmented macules, Atheto... ORPHA:280633
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, Band keratopathy, T lymphocytopenia, Delayed puberty, Micropenis, Hyperpigment... ORPHA:2959
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Autoimmune Polyendocrine Syndrome, Type Ii
Band keratopathy, Hypothyroidism, Primary adrenal insufficiency, Thymoma, Chronic hepatitis, Cata... OMIM:269200
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:615715
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate ORPHA:506353
Fechtner syndrome
Developmental cataract, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Nephritis, Neut... OMIM:153640
Fanconi Anemia, Complementation Group T
Pancytopenia, Bone marrow hypocellularity, Anemia, Short stature, Thrombocytopenia OMIM:616435
Corneal ulceration, Leukocytosis, Uveitis, Ulcerative colitis, Arthritis, Pneumonia, Peritonitis,... ORPHA:810
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Colitis, Splenomegaly, Anemia, Recurrent sinusitis, Lymphad...