Gene Summary

Name:
snail family zinc finger 2
Synonyms:
Slugh,  Slug,  Snail2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
microphthalmia Snai2tm1.1(KOMP)Vlcg HET E15.5 0.00
anophthalmia Snai2tm1.1(KOMP)Vlcg HET E15.5 0.00
polydactyly Snai2tm1.1(KOMP)Vlcg HET E15.5 0.00
abnormal coat/hair pigmentation Snai2tm1.1(KOMP)Vlcg HOM Early adult 6.56×10-07
abnormal coat/ hair morphology Snai2tm1.1(KOMP)Vlcg HOM Early adult 9.11×10-05
enlarged heart Snai2tm1.1(KOMP)Vlcg HET Early adult 0.00
preweaning lethality, incomplete penetrance Snai2tm1.1(KOMP)Vlcg HOM   Early adult 0.00
microcephaly Snai2tm1.1(KOMP)Vlcg HET E15.5 0.00
syndactyly Snai2tm1.1(KOMP)Vlcg HET E15.5 0.00
spina bifida Snai2tm1.1(KOMP)Vlcg HET E15.5 0.00
hemorrhage Snai2tm1.1(KOMP)Vlcg HET E15.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone 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 100% (2 of 2)
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 100% (2 of 2)
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 100% (2 of 2)
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
meckel's cartilage Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pericardium Ambiguous
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
trunk mesenchyme Ambiguous
upper arm Ambiguous
upper leg Ambiguous
vibrissa Ambiguous

Associated Images

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

Adult LacZ

LacZ Images Section

160 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

27 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 associated to Snai2 by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Microcephaly, Brachydactyly, Clinodactyly OMIM:233270
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Ethanolaminosis
Cardiomegaly OMIM:227150
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Syngnathia
Cleft palate OMIM:119550
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Macrocephaly, Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Syndacty... OMIM:615938
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Macrocephaly, Reduced proximal interphalangeal joint space, Short distal ph... ORPHA:3246
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Spinal Muscular Atrophy With Mental Retardation
Microcephaly, Syndactyly OMIM:271109
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Macrocephaly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped met... OMIM:174200
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hyperpigmentation of the skin, Hypopigmentat... ORPHA:158029
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Small nail, Hyperpigmentation of the skin, Brittle hair, Absent p... OMIM:129500
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Microcephaly, Toe sy... ORPHA:64754
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Holoprosencephaly, Anophthalmia OMIM:611638
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Flotch Syndrome
Inflammatory abnormality of the eye, Abnormal eyelid morphology, Abnormal eyelash morphology, Spa... ORPHA:2045
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
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
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Diamond-Blackfan Anemia 17
Anemia, Hyperpigmentation of the skin OMIM:617409
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Decreased testicular size, Growth delay, Thrombocytopenia, Developmental ca... OMIM:601815
Uvula, Bifid
Bifid uvula OMIM:192100
Ziegler-Huang Syndrome
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Growth delay, Bone... OMIM:620501
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Poikiloderma With Neutropenia
Nail dystrophy, Recurrent otitis media, Nasolacrimal duct obstruction, Skin rash, Low posterior h... OMIM:604173
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Microcephaly, ... OMIM:613885
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Bone Marrow Failure Syndrome 3
Aplastic anemia, Nail dystrophy, Hyperechogenic pancreas, Small nail, Hyperactivity, Bone marrow ... OMIM:617052
Wolfram Syndrome 1
Diabetes insipidus, Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Ptosis, Growth de... OMIM:222300
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Microcephaly, 2-4 toe syndactyly, Syndactyly OMIM:241000
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Short stature, Thrombocytopenia, Abnormal hemoglobin, Melanocytic nevus ORPHA:3319
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Spina bifi... ORPHA:957
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Lymphadenopathy, Skin rash, Thrombocytopenia, Splenomegaly, Conjunctivi... OMIM:603552
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Mmep Syndrome
Microcephaly, Microphthalmia, Triphalangeal thumb, Split foot ORPHA:3434
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Telecanthus, Hyperpigmentation of the skin, Adrenal hypoplasia, S... OMIM:619151
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Birk-Aharoni Syndrome
Micropenis, Cryptorchidism, Thick eyebrow, Macrocytic anemia OMIM:620071
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Congenital Varicella Syndrome
Microcephaly, Microphthalmia, Cerebral cortical atrophy, Micromelia ORPHA:291
Cleft Soft Palate
Cleft soft palate OMIM:119570
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Microcephaly, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of ... OMIM:600384
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Abnormality of skin pigmentation, Infertility OMIM:300719
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microphthalmia, Microcephaly, Agenesis of corpus callosum, Cerebellar hypopla... OMIM:616570
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Immunodeficiency 46
Chronic oral candidiasis, Anemia, Intermittent thrombocytopenia, Conjunctivitis, Neutropenia OMIM:616740
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Dandy-Walker malformation, Orbit... OMIM:164180
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Dyskeratosis Congenita, X-Linked
Premature graying of hair, Nail dystrophy, Ridged nail, Bone marrow hypocellularity, Leukopenia, ... OMIM:305000
Dyskeratosis Congenita
Premature graying of hair, Hypermelanotic macule, Nail dystrophy, Neoplasm of the pancreas, Aplas... ORPHA:1775
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Cafe-au-lait spot, Growth... OMIM:615234
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Premature graying of hair, Nail dysplasia, Nail dystrophy, Anemia, Macrocytic an... OMIM:613990
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Chronic otitis media, Anemia, Neutropenia, Arthritis, Skin rash, Sinu... ORPHA:47
Acalvaria
Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Holoprosencephaly, Aplasia/Hypoplasia of... ORPHA:945
Deafness, Congenital, With Total Albinism
Albinism, Hypogonadism OMIM:220900
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th... OMIM:102510
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Non-caseating epithelioid cell gran... ORPHA:227990
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Growth delay, Short stature, Neutropenia OMIM:612563
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Hypoplasi... OMIM:615771
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Frontal Encephalocele
Macrocephaly, Encephalocele, Hydrocephalus, Cerebral calcification, Spina bifida, Aplasia/Hypopla... ORPHA:1931
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Camptodactyly, Spina bifida, Dermatoglyphic ridges abnormal, Small hypothenar eminence, Small the... OMIM:211960
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Ectropion, Folliculitis, Sparse eyelashes, Blepharitis, Sparse eyebrow, Keratitis, Conjunctivitis OMIM:308800
Tularemia
Pneumonia, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Inflammatory abnormality of the ... ORPHA:3392
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Leukopenia, Type I diabetes mellitus, Aplasia/Hypoplasia of the spleen, Non-ca... ORPHA:227982
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dysplasia, Nail dystrophy, Scarring alopecia of scalp, Folliculitis, Sparse eyelashes, Bleph... OMIM:612843
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Recurrent sinusitis, Splenomegaly, Erythema nodosum, Type I diabetes mellitu... OMIM:614700
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Premature graying of hair, Nail dystrophy, Anemia, Ridged nail, Increased mean c... OMIM:127550
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Inferior cerebellar vermis hypoplasia, Proximal placement of thumb, Anophthalmia,... ORPHA:139471
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom... ORPHA:998
Lichen Planus Pemphigoides
Abnormality of the nail, Blepharitis, Conjunctivitis, Hypopigmented streaks ORPHA:254478
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Allergic rhinitis, Conjunctivitis ORPHA:26137
Crossed Polysyndactyly
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb ORPHA:2935
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Macrocytic anemia, Low posterior hairline, Short stature, Downslanted palpebral fissures, Sparse ... OMIM:606164
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Abnormal T cell co... OMIM:613493
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Microphthalmia, Sandal g... OMIM:206920
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed puberty, Blepharitis, Psoriasiform dermatitis, Short stature OMIM:616834
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli... OMIM:610140
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Short stature, Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Humero-Radial Synostosis
Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Meningocele, Microc... ORPHA:3265
Atelis Syndrome 1
Irregular hyperpigmentation, Anemia, Cataract, Eczematoid dermatitis, Cafe-au-lait spot, Bronchie... OMIM:620184
Cartilage-Hair Hypoplasia
Neonatal short-limb short stature, Impaired lymphocyte transformation with phytohemagglutinin, An... OMIM:250250
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase activity OMIM:615909
Microcephaly-Cardiomyopathy
Microcephaly, Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap OMIM:251220
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Abnormality of the nail, Corneal opacity, Curly hair, Sparse eyela... OMIM:602400
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidism, Bone marr... OMIM:618849
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... ORPHA:488232
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Olmsted Syndrome, X-Linked
Posterior blepharitis, Blepharitis OMIM:300918
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Megaloblastic anemia OMIM:243320
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Adams-Oliver Syndrome 4
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... OMIM:615297
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Radioulnar synostosis, Abnormali... ORPHA:3268
Craniotelencephalic Dysplasia
Microphthalmia, Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, ... ORPHA:1528
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ptosis, Agitation, Splenomegaly, Macrocytic anemia OMIM:619046
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Megaloblastic anemia, Short stature, Thrombocytopenia, Diabetes mellitus ORPHA:49827
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele, Agenesis of cerebellar vermis OMIM:213010
Greig Cephalopolysyndactyly Syndrome
Macrocephaly, Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad ha... ORPHA:380
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Macrocephaly, Clinodactyly of the 5th finger ORPHA:238446
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Hypospadias, Telecanthus, Glandular hypospadias, Megaloblastic anemia, Folate-unrespon... ORPHA:2575
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Aphalangy-Syndactyly-Microcephaly Syndrome
Abnormal metacarpal morphology, Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the t... ORPHA:1113
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly ORPHA:294975
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia, Hypothyroidism, Ptosis, Dysphagia, Hypogonadism, Cataract, Diabetes mellitus ORPHA:98673
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Candidiasis, Familial, 8
Blepharitis, Chronic oral candidiasis, Cheilitis, Seborrheic dermatitis OMIM:615527
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpuscular volu... ORPHA:232
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Immunodeficiency 114, Folate-Responsive
Postnatal growth retardation, Megaloblastic anemia, Atopic dermatitis, Thrombocytopenia, Splenome... OMIM:620603
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Death in infancy OMIM:258320
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Microphthalmia, Syndactyly, Brachydactyly OMIM:610023
Fanconi Anemia, Complementation Group G
Anemia, Multiple cafe-au-lait spots, Growth delay, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Wiskott-Aldrich Syndrome
Chronic otitis media, Abnormal platelet function, Sinusitis, Abnormal platelet morphology, Lympho... ORPHA:906
Glutamate Formiminotransferase Deficiency
Growth delay, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B... OMIM:607594
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Albinism-Deafness Syndrome
Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism OMIM:300700
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Hypospadias, Reticulocytopenia, Short stature, Leukopenia OMIM:612528
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Type I diabetes mellitus, T-cell acute lymphoblastic leukemias... OMIM:620044
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse scalp hair, Eczematoid dermatitis, Sparse eyelashes, Blepharitis, Spars... OMIM:618535
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Arthritis, T lymphocytopenia, Purulent rhinitis, Otitis media, Conjunctivitis,... OMIM:601457
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... OMIM:183600
Griscelli Syndrome, Type 2
Hemophagocytosis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation ... OMIM:607624
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite OMIM:119540
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Nail dystrophy, Vaginal dryness, Hypospadias, Hyperpigmentation of the skin, Absent eyelashes, La... OMIM:106260
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Anemia, Macrocytic anemia, Thrombocytopenia, Leukopenia ORPHA:27
Wolfram Syndrome, Mitochondrial Form
Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Diabetes mellit... OMIM:598500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Premature graying of hair, Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly, Cho... OMIM:620367
Xeroderma Pigmentosum
Hypopigmented skin patches, Ectropion, Hypermelanotic macule, Entropion, Pterygium, Conjunctival ... ORPHA:910
Meckel Syndrome, Type 2
Polydactyly, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, ... OMIM:603194
Joubert Syndrome 22
Hypoplasia of the corpus callosum, Microphthalmia, 2-3 toe syndactyly, Postaxial hand polydactyly... OMIM:615665
Atopic Keratoconjunctivitis
Loss of eyelashes, Abnormal eyelid morphology, Blepharitis, Conjunctival hyperemia, Chemosis, Ker... ORPHA:163934
Celiac Disease, Susceptibility To, 1
Delayed puberty, Postnatal growth retardation, Recurrent aphthous stomatitis, Iron deficiency ane... OMIM:212750
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
16Q24.3 Microdeletion Syndrome
Chronic otitis media, Astigmatism, Increased mean corpuscular volume, Highly arched eyebrow, Abno... ORPHA:261250
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydro... OMIM:611134
Acrodermatitis Enteropathica
Anorexia, Cheilitis, Corneal erosion, Ridged nail, Abnormality of the nail, Abnormal eyelid morph... ORPHA:37
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly, Microphthalmia ORPHA:141333
Late-Onset Isolated Acth Deficiency
Anorexia, Normocytic anemia, Premature ovarian insufficiency, Hypoparathyroidism, Macrocytic anem... ORPHA:199299
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Azoospermia, Reticulocytopenia, Abnormality of the hypothalamus-pitu... ORPHA:300298
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l... OMIM:611561
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Lisse... OMIM:218670
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Revesz Syndrome
Aplastic anemia, Nail dystrophy, Macrocytic anemia, Megalocornea, Bone marrow hypocellularity, Na... OMIM:268130
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Growth delay, Short stature, Neutropenia OMIM:612527
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Thrombocytopenia, Infectious encephalitis, Conjunctivitis, Intrau... ORPHA:448237
Majeed Syndrome
Delayed puberty, Skin rash, Anemia of inadequate production, Growth delay, Hepatosplenomegaly, In... OMIM:609628
Seckel Syndrome 2
Microphthalmia, Clinodactyly of the 5th finger, Microcephaly, Basal ganglia calcification, Heart ... OMIM:606744
Muckle-Wells Syndrome
Recurrent aphthous stomatitis, Leukocytosis, Short stature, Conjunctival hyperemia, Conjunctiviti... OMIM:191900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Intrauterine g... OMIM:617021
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Hyperactivity, Synophrys, Short stature, Growth delay, Downslanted palpebral f... OMIM:614294
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida ORPHA:1104
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Lymphadenopathy, Abnormal T cell count, Recurrent pneumonia, Recurrent si... OMIM:240500
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent pneumonia, Conju... OMIM:612692
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nail dystrophy, Female hypogonadism, Type I diabetes mellitus, Adrenal insufficiency, Chronic ora... OMIM:240300
Muckle-Wells Syndrome
Delayed puberty, Anemia, Recurrent aphthous stomatitis, Arthritis, Skin rash, Episcleritis, Short... ORPHA:575
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hypoplasia of the corpus callosum, Microphthalmia, Abnormal left ventricular function, Focal cort... OMIM:613155
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia, Cryptorchidism, Thiamin... OMIM:249270
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Bilateral microphthalmos, Prominent protruding coccyx, Hydranenc... ORPHA:2839
Down Syndrome
Decreased fertility, Delayed puberty, Leukemia, Keratoconus, Short stature, Blepharitis, Polycyth... ORPHA:870
Anemia, Sideroblastic, 1
Sideroblastic anemia, Anemia of inadequate production, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Lissencephaly 8
Hypoplasia of the corpus callosum, Occipital encephalocele, Microphthalmia, Polymicrogyria, Type ... OMIM:617255
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Ifap Syndrome 2
Nail dystrophy, Atrichia, Angular cheilitis, Posterior blepharitis, Keratitis, Sparse hair, Catar... OMIM:619016
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Microphthalmia, Megalencephaly, Cavum septum pellucidum, Hydrocephalus, Polymicrogyr... OMIM:602501
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Nail dystrophy, Anemia, Corneal scarring, Growth delay, Dysphagia, Conjunctivitis... OMIM:226600
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Congenital Erythropoietic Porphyria
Ectropion, Loss of eyelashes, Hyperpigmentation of the skin, Scarring alopecia of scalp, Corneal ... ORPHA:79277
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Small nail, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Growth dela... OMIM:615631
Vernal Keratoconjunctivitis
Keratoconjunctivitis, Punctate keratitis, Blepharitis, Conjunctival hyperemia, Allergic conjuncti... ORPHA:70476
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Macrocephaly, Spindle-shaped finger, Genu va... ORPHA:166024
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Feingold Syndrome Type 2
Microcephaly, Short middle phalanx of finger, Short thumb, Brachydactyly, Toe syndactyly ORPHA:391646
Porphyria, Congenital Erythropoietic
Loss of eyelashes, Cholelithiasis, Hyperpigmentation of the skin, Hypopigmentation of the skin, C... OMIM:263700
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid... ORPHA:67044
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Eec Syndrome
Nail dystrophy, Decreased response to growth hormone stimulation test, Entropion, Hypospadias, An... ORPHA:1896
Hepatoerythropoietic Porphyria
Ectropion, Loss of eyelashes, Hyperpigmentation of the skin, Scarring alopecia of scalp, Corneal ... ORPHA:95159
Hydrolethalus
Microphthalmia, Anencephaly, Anophthalmia, Hydrocephalus, Postaxial hand polydactyly, Micromelia,... ORPHA:2189
Septooptic Dysplasia
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Agenesis of corpus call... OMIM:182230
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Growth delay OMIM:612561
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Slow-growing hair, Microcornea, Tiger tail banding, Short stature, Mild intrauterin... OMIM:616943
Holocarboxylase Synthetase Deficiency
Anorexia, Perioral eczema, Keratoconjunctivitis, Eczematoid dermatitis, Growth delay, Thrombocyto... ORPHA:79242
Immunodeficiency 96
Recurrent otitis media, Increased mean corpuscular volume, Eczematoid dermatitis, Conjunctival te... OMIM:619774
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Schisis Association
Anencephaly, Encephalocele, Micromelia, Microcephaly, Spina bifida ORPHA:63862
Bone Marrow Failure Syndrome 5
Nail dystrophy, Anemia, Erythroid hypoplasia, Short stature, Pure red cell aplasia, Reticular hyp... OMIM:618165
Limb-Mammary Syndrome
Nail dysplasia, Chronic irritative conjunctivitis, Aplasia of the ovary, Breast aplasia, Lacrimal... ORPHA:69085
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
2Q24 Microdeletion Syndrome
Microphthalmia, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Hand clenchi... ORPHA:1617
Bardet-Biedl Syndrome 22
Microcephaly, Polydactyly, Macrocephaly, Postaxial foot polydactyly OMIM:617119
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume,... ORPHA:2169
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Camptodactyly Syndrome, Guadalajara Type 1
Cubitus valgus, Scapular winging, Spina bifida, Microcephaly, Camptodactyly of finger, Short toe,... ORPHA:1327
Combined Oxidative Phosphorylation Deficiency 18
Intrauterine growth retardation, Hypersegmentation of neutrophil nuclei, Macrocytic anemia OMIM:615578
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Anemia of inadequate production, Impotence, Female hypogonadism, Hypogonadi... ORPHA:91349
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Microphthalmia, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern,... OMIM:616171
Czeizel-Losonci Syndrome
Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar crease, Ectrodact... ORPHA:2437
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Split-Foot Malformation With Mesoaxial Polydactyly
Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Intermediate Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Anemia, Scarring alopecia of scalp, Growth delay, Abnormality of skin pigmentatio... ORPHA:79402
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Short statu... OMIM:309548
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly, Microphthalmia OMIM:614830
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx OMIM:605967
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Griscelli Syndrome
Premature graying of hair, Hypopigmented skin patches, Lymphadenopathy, Silver-gray hair, Abnorma... ORPHA:381
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Familial Cold Autoinflammatory Syndrome 1
Arthritis, Skin rash, Leukocytosis, Conjunctivitis, Uveitis OMIM:120100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Coffin-Siris Syndrome 8
Hyperactivity, Sparse scalp hair, Long eyelashes, Eczematoid dermatitis, Ptosis, Thick eyebrow, S... OMIM:618362
Kid Syndrome
Nail dystrophy, Corneal neovascularization, Corneal erosion, Aplastic/hypoplastic lacrimal glands... ORPHA:477
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly OMIM:615984
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Curry-Jones Syndrome
Microphthalmia, Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx, A... ORPHA:1553
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Short statu... ORPHA:100973
Alazami-Yuan Syndrome
Highly arched eyebrow, Hyperactivity, Hirsutism, Synophrys, Long eyelashes, Short stature, Low an... OMIM:617126
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Skin rash, Chronic neutropenia, Sinusitis, Bone marrow hypoce... ORPHA:811
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Hirsutism, Short stature, Epicanthus, Cataract, Increased serum serotonin ORPHA:85288
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis... OMIM:224120
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Juvenile Xanthogranuloma
Iritis, Myeloproliferative disorder, Multiple cafe-au-lait spots, Blepharitis, Asymmetry of iris ... ORPHA:158000
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Xk Aprosencephaly Syndrome
Microcephaly, Microphthalmia, Abnormal morphology of the radius ORPHA:3469
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Nail dystrophy, Sparse axillary hair, Transverse vaginal septum, Decreased response to growth hor... OMIM:604292
Infantile Liver Failure Syndrome 1
Anemia, Macrocytic anemia OMIM:615438
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Hartsfield Syndrome
Microphthalmia, Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the rad... ORPHA:2117
Hemochromatosis, Type 3
Anemia, Hyperpigmentation of the skin, Arthritis, Impotence, Lymphopenia, Amenorrhea, Hypogonadot... OMIM:604250
Prader-Willi Syndrome Due To Imprinting Mutation
External genital hypoplasia, Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, ... ORPHA:177910
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Pustule OMIM:614328
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Onychotrichodysplasia And Neutropenia
Trichorrhexis nodosa, Hypoplastic fingernail, Chronic irritative conjunctivitis, Curly eyelashes,... OMIM:258360
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Decreased response to ... OMIM:307200
Dominant Beta-Thalassemia
Delayed puberty, Hypochromic microcytic anemia, Hypoparathyroidism, Hyperpigmentation of the skin... ORPHA:231226
Moebius Syndrome
Breast aplasia, Corneal opacity, Multiple cafe-au-lait spots, Blepharitis, Ptosis, Dysphagia, Epi... ORPHA:570
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
17Q23.1Q23.2 Microdeletion Syndrome
Chronic otitis media, Highly arched eyebrow, Long eyelashes, Short stature, Blepharitis, Epicanth... ORPHA:261279
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Lymphadenopathy, Conjunctivitis OMIM:617772
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Short stature ORPHA:2760
Splenogonadal Fusion With Limb Defects And Micrognathia
Stillbirth, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Short stature, Anisocytosis, Abnormal ... ORPHA:98870
Cockayne Syndrome Type 2
Hypermelanotic macule, Cryptorchidism, Developmental cataract, Conjunctivitis, Intrauterine growt... ORPHA:90322
Diamond-Blackfan Anemia 12
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... OMIM:615550
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia, Menorrhagia OMIM:616176
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Macrocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Epicanthus, Conjunctivitis, Bronchiectasis... ORPHA:33110
Temtamy Syndrome
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Aplasia/H... ORPHA:1777
Dyskeratosis Congenita, Autosomal Recessive 2
Nail dystrophy, Pancytopenia, Testicular atrophy, Growth delay, Bone marrow hypocellularity, Thro... OMIM:613987
Trichothiodystrophy
Numerous pigmented freckles, Ectropion, Gonadal dysgenesis, Ridged nail, Aplasia/Hypoplasia of th... ORPHA:33364
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Corneal opacity, Thrombocytopenia ORPHA:1980
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Macrocephaly, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Metaphyseal cupp... OMIM:300863
Cockayne Syndrome Type 1
Postnatal growth retardation, Hypermelanotic macule, Anemia, Cryptorchidism, Conjunctivitis, Cata... ORPHA:90321
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Nail dysplasia, Sparse axillary hair, Sparse hair, Transverse vaginal septum, Decreased response ... OMIM:129900
Acute Generalized Exanthematous Pustulosis
Cheilitis, Lymphadenopathy, Hyperpigmentation of the skin, Leukocytosis, Predominantly dermal neu... ORPHA:293173
Frontonasal Dysplasia 1
Microphthalmia, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Postaxial hand po... OMIM:136760
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Proteus Syndrome
Ptosis, Downslanted palpebral fissures, Splenomegaly, Limbal dermoid, Depigmentation/hyperpigment... OMIM:176920
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Occipital encephalocele, Microphthalmia, Hydrocephalus, Type II lissencephaly ORPHA:324416
Systemic Lupus Erythematosus 17
Myelitis, Malar rash, Optic neuritis, Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune throm... OMIM:301080
Dermatopathia Pigmentosa Reticularis
Reticular hyperpigmentation, Alopecia of scalp, Nail dystrophy, Abnormal conjunctiva morphology OMIM:125595
Lesch-Nyhan Syndrome
Podagra, Mega