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
syndactyly Snai2tm1.1(KOMP)Vlcg HET E15.5 0.00
abnormal coat/hair pigmentation Snai2tm1.1(KOMP)Vlcg HOM Early adult 6.54×10-07
microphthalmia Snai2tm1.1(KOMP)Vlcg HET E15.5 0.00
abnormal coat/ hair morphology Snai2tm1.1(KOMP)Vlcg HOM Early adult 9.07×10-05
spina bifida Snai2tm1.1(KOMP)Vlcg HET E15.5 0.00
preweaning lethality, incomplete penetrance Snai2tm1.1(KOMP)Vlcg HOM   Early adult 0.00
enlarged heart Snai2tm1.1(KOMP)Vlcg HET Early adult 0.00
hemorrhage 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
microcephaly Snai2tm1.1(KOMP)Vlcg HET E15.5 0.00

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
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 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 511)
heart ventricle 1.67% (1 of 60)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 506)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
meckel's cartilage 0.0%
midbrain 0.2% (1 of 511)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 506)
outflow tract 1.67% (1 of 60)
pericardium 1.82% (1 of 55)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
trunk mesenchyme 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
vibrissa 1.35% (1 of 74)

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 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
Matching phenotypes Source
Gombo Syndrome
Microphthalmia, Microcephaly, Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Griscelli Syndrome, Type 3
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair OMIM:609227
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Cardiomegaly OMIM:227150
Syndactyly Type 2
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... ORPHA:93403
Cleft palate OMIM:119550
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... OMIM:174500
Synpolydactyly 1
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... OMIM:186000
Polydactyly, Postaxial, Type A1
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... OMIM:174200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Macrocephaly, Polymicrogyria, Hydrocephalus, Syndactyly, Megalencephaly, Thick corpus callosum, P... OMIM:615938
Syndactyly, Type Iv
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... OMIM:186200
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... OMIM:214450
Symphalangism With Multiple Anomalies Of Hands And Feet
Short distal phalanx of hallux, Macrocephaly, Small thenar eminence, Aplasia/Hypoplasia of the di... ORPHA:3246
Syndactyly Type 1
Toe syndactyly, Finger syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Microcephaly OMIM:271109
Syndactyly, Type Iii
4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger OMIM:186100
Albinism, Oculocutaneous, Type Iii
Partial albinism, Red hair, Albinism OMIM:203290
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Sea-Blue Histiocytosis
Blepharitis, Sea-blue histiocytosis, Hyperpigmentation of the skin, Hypopigmentation of the skin,... ORPHA:158029
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Clouston Syndrome
Cataract, Nail dysplasia, Onycholysis, Absent axillary hair, Fine hair, Brittle hair, Blepharitis... OMIM:129500
Congenital Radioulnar Synostosis
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... ORPHA:3269
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Downslanted palpebral fissures, Persistence of hemoglobin F, Macrocytic anemia, Increased mean co... OMIM:300946
Brachydactyly, Type C
Ulnar deviation of the 3rd finger, Enlarged epiphysis of the proximal phalanx of the 2nd finger, ... OMIM:113100
Tietz Syndrome
White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Abnormality of the upper limb, Bilateral single ... ORPHA:1891
Nevus Comedonicus Syndrome
Spina bifida, Preaxial polydactyly, Finger syndactyly, Toe syndactyly, Spina bifida occulta, Micr... ORPHA:64754
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly OMIM:607539
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Polydactyly, Preaxial Iv
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... OMIM:174700
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
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Flotch Syndrome
Abnormal eyelash morphology, Blepharitis, Inflammatory abnormality of the eye, Abnormal eyelid mo... ORPHA:2045
Uvula, Bifid
Bifid uvula OMIM:192100
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Uncombable Hair Syndrome
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia ORPHA:1410
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin, Anemia OMIM:617409
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia, Growth delay, Developmental ca... OMIM:601815
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Poikiloderma With Neutropenia
Leukopenia, Skin rash, Reticular hyperpigmentation, Low posterior hairline, Blepharitis, Short st... OMIM:604173
Meckel Syndrome, Type 8
Encephalocele, Polydactyly, Occipital encephalocele, Microphthalmia, Microcephaly, Talipes equino... OMIM:613885
Wolfram Syndrome 1
Cataract, Testicular atrophy, Megaloblastic anemia, Diabetes mellitus, Pigmentary retinopathy, Di... OMIM:222300
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Microcephaly OMIM:241000
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Short stature, Thrombocytopenia, Melanocytic nevus ORPHA:3319
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Spina bifida, Finger syndactyly, Synosto... ORPHA:957
Bone Marrow Failure Syndrome 3
Epicanthus, Pancreatic steatosis, Nail dystrophy, Sparse hair, Hyperechogenic pancreas, Acute mye... OMIM:617052
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Anemia, Skin rash, Thrombocytopenia, Lymphadenopathy, Conjunctivitis, Splenomeg... OMIM:603552
Mmep Syndrome
Triphalangeal thumb, Microcephaly, Microphthalmia, Split foot ORPHA:3434
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Jawad Syndrome
Primary microcephaly, Hallux valgus, Postaxial polydactyly, Short middle phalanx of the 5th finge... OMIM:251255
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Syndactyly Type 5
Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o... ORPHA:93406
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Microphthalmia OMIM:600776
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Amed Syndrome, Digenic
Adrenal hypoplasia, Leukopenia, Anemia, Bone marrow hypocellularity, Attention deficit hyperactiv... OMIM:619151
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Cataract, Abnormality of skin pigmentation OMIM:300719
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Pigment gallstones, Hypochromic anemia, Persiste... ORPHA:232
Birk-Aharoni Syndrome
Cryptorchidism, Thick eyebrow, Macrocytic anemia, Micropenis OMIM:620071
Wahab Syndrome
Camptodactyly, Short thumb, Short metacarpal, Syndactyly, Adducted thumb, Short palm, Clinodactyl... OMIM:615170
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Duplication of metatarsal bones, Syndactyly, Microcephaly, Cutaneous finger syndactyly, Aplasia/H... OMIM:600384
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Rocker bottom foot, Microcephaly, Cerebellar hypoplasia, Talipes equinovarus, Age... OMIM:616570
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Orbital encephalocele, Anophthalmia, Dandy-Walker malformation, Micro... OMIM:164180
Immunodeficiency 46
Intermittent thrombocytopenia, Anemia, Chronic oral candidiasis, Conjunctivitis, Neutropenia OMIM:616740
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Cleft Soft Palate
Cleft soft palate OMIM:119570
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Bone marrow hypocellularity, Neutropenia, Increased mean corpuscular volume, Thrombocytop... OMIM:619041
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... ORPHA:93405
Santos Syndrome
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... OMIM:613005
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Bone marrow hypocellularity, Macrocyti... ORPHA:86841
Dyskeratosis Congenita
Abnormal morphology of female internal genitalia, Abnormal eyebrow morphology, Diabetes mellitus,... ORPHA:1775
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse body hair, Anonychia, Hyperconvex nail, Patchy alopecia, Micropenis, Supernumerary nipple,... OMIM:106260
Spina bifida, Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyly, Aplasia/Hypoplasia of... ORPHA:945
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... OMIM:617780
Dyskeratosis Congenita, X-Linked
Pterygium of nails, Nail dystrophy, Acute myeloid leukemia, Reticulated skin pigmentation, Crypto... OMIM:305000
X-Linked Agammaglobulinemia
Chronic otitis media, Recurrent cutaneous abscess formation, Anemia, Hypopigmented skin patches, ... ORPHA:47
Acropectorovertebral Dysplasia
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... OMIM:102510
Deafness, Congenital, With Total Albinism
Albinism, Hypogonadism OMIM:220900
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Piebaldism, Synophrys, Hypopigmented skin patches, White eyelashes, Hypopigmentation of hair, Whi... ORPHA:2884
Diamond-Blackfan Anemia 8
Short stature, Macrocytic anemia, Increased mean corpuscular volume, Growth delay, Neutropenia OMIM:612563
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger ORPHA:71289
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Primary microcephaly, Thin corpus callosum, Partial agenesis of the corpus callosum, Dysgenesis o... OMIM:615771
Frontal Encephalocele
Encephalocele, Macrocephaly, Hydrocephalus, Spina bifida, Cerebral calcification, Aplasia/Hypopla... ORPHA:1931
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Anemia, Decreased mean corpuscular volume, Hypochromia, Cafe-au-lait spot, Azoosper... OMIM:615234
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi... ORPHA:1892
Autoimmune Polyendocrinopathy Type 4
Thymoma, Non-caseating epithelioid cell granulomatosis, Keratoconjunctivitis sicca, Macrocytic an... ORPHA:227990
Congenital Ptosis
Congenital fibrosis of extraocular muscles, Premature ovarian insufficiency, Long eyelashes, Cong... ORPHA:91411
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratitis, Ectropion, Blepharitis, Sparse eyebrow, Sparse eyelashes, Conjunctivitis, Folliculitis OMIM:308800
Ulnar Hemimelia
Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... ORPHA:93320
Leukocytosis, Cervical lymphadenopathy, Anemia, Skin rash, Conjunctival hyperemia, Inflammatory a... ORPHA:3392
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Dermatoglyphic ridges abnormal, Camptodactyly, Small thenar eminence, Spina bifida, Small hypothe... OMIM:211960
Autoimmune Polyendocrinopathy Type 3
Thymoma, Non-caseating epithelioid cell granulomatosis, Keratoconjunctivitis sicca, Macrocytic an... ORPHA:227982
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala... OMIM:605289
Dyskeratosis Congenita, Autosomal Dominant 1
Nail pits, Leukopenia, Ridged nail, Aplastic anemia, Anemia, Premature graying of hair, Reticular... OMIM:127550
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Keratitis, Nail dysplasia, Blepharitis, Alopecia, Sparse eyebrow, Scarring alopecia of ... OMIM:612843
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Brachydactyly, Type A2
Medially deviated second toe, Hallux valgus, Aplasia/Hypoplasia of the middle phalanx of the 2nd ... OMIM:112600
Brachydactyly Type A7
Medially deviated second toe, Broad distal phalanx of the thumb, Hallux valgus, Short middle phal... ORPHA:93397
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:606952
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Proximal placement of thumb, F... ORPHA:139471
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic erythroid hype... OMIM:261000
Liebenberg Syndrome
2-3 finger syndactyly, Metaphyseal widening, Joint contracture of the 5th finger, Abnormal carpal... OMIM:186550
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro... ORPHA:998
Atopic Keratoconjunctivitis
Chemosis, Keratoconjunctivitis sicca, Loss of eyelashes, Blepharitis, Abnormal eyelid morphology,... ORPHA:163934
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Lichen Planus Pemphigoides
Abnormality of the nail, Blepharitis, Hypopigmented streaks, Conjunctivitis ORPHA:254478
Immunodeficiency, Common Variable, 8, With Autoimmunity
Colitis, B lymphocytopenia, Hypothyroidism, Erythema nodosum, Recurrent pneumonia, Thrombocytopen... OMIM:614700
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Short stature, Delayed puberty, Blepharitis, Psoriasiform dermatitis OMIM:616834
Van Der Woude Syndrome 1
Bifid uvula, Cleft palate, Hypodontia, Cleft upper lip, Lower lip pit OMIM:119300
Humero-Radial Synostosis
Elbow ankylosis, Meningocele, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Microcep... ORPHA:3265
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Piebald Trait
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... OMIM:172800
Microphthalmia With Limb Anomalies
Foot oligodactyly, Postaxial foot polydactyly, 2-3 toe cutaneous syndactyly, Hip dislocation, Met... OMIM:206920
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brac... OMIM:610140
Bone Marrow Failure Syndrome 6
Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Lymphopenia, Increased mean cor... OMIM:618849
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Short stature, Neutropenia ORPHA:90023
Waardenburg Syndrome, Type 2F
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Epicanthus, Downslanted palpebral fissures, Low posterior hairline, Short stature, Macrocytic ane... OMIM:606164
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Cartilage-Hair Hypoplasia
Sparse facial hair, Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Fine hair... OMIM:250250
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe... ORPHA:157801
Sandal gap, Microcephaly, Dilated cardiomyopathy, Clinodactyly of the 5th finger OMIM:251220
Olmsted Syndrome, X-Linked
Blepharitis, Posterior blepharitis OMIM:300918
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Growth delay OMIM:243320
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... OMIM:610713
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Woolly Hair
Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S... ORPHA:170
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Radioulnar synostosis, Microcephaly, Clinodactyly of... ORPHA:3268
Candidiasis, Familial, 8
Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis OMIM:615527
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse body hair, Curly eyelashes, Curly hair, Brittle hair, Blepharitis, Sparse eyebrow, Corneal... OMIM:602400
Adams-Oliver Syndrome 4
Umbilical hernia, Microphthalmia, Aplasia of the middle phalanx of the 4th toe, Short toe, Absent... OMIM:615297
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Shawl scrotum, Megaloblastic anemia, Abnormal erythrocyte morphology, Folate-unresponsive megalob... ORPHA:2575
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly OMIM:213010
Greig Cephalopolysyndactyly Syndrome
Macrocephaly, Postaxial foot polydactyly, Hydrocephalus, Umbilical hernia, Finger syndactyly, Pre... ORPHA:380
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Postaxial foot polydactyly, Short distal phalanx of finger, Abnormal met... ORPHA:1113
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Polydactyly, Upper limb phocomelia ORPHA:294975
Atelis Syndrome 1
Cataract, Leukopenia, Irregular hyperpigmentation, Anemia, Downslanted palpebral fissures, Attent... OMIM:620184
Fibular Hemimelia
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... ORPHA:93323
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe, 1-2 toe complete cutaneous syndactyly, A... ORPHA:488232
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Intrauter... ORPHA:2133
Fanconi Anemia, Complementation Group G
Anemia, Leukemia, Multiple cafe-au-lait spots, Thrombocytopenia, Growth delay, Neutropenia OMIM:614082
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly ORPHA:1114
Hidrotic Ectodermal Dysplasia
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... ORPHA:189
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Overlapping fingers, Overlapping toe, Hallux varus, ... OMIM:618167
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ptosis, Splenomegaly, Macrocytic anemia, Agitation OMIM:619046
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Syndactyly, Microphthalmia, Brachydactyly OMIM:610023
15Q11Q13 Microduplication Syndrome
Macrocephaly, Finger syndactyly, Clinodactyly of the 5th finger ORPHA:238446
Syndactyly, Type V
Short distal phalanx of finger, Camptodactyly of finger, Absent distal interphalangeal creases, 4... OMIM:186300
Juvenile Temporal Arteritis
Allergic rhinitis, Conjunctivitis, Leukocytosis, Eosinophilia ORPHA:26137
Autosomal Dominant Optic Atrophy, Classic Form
Cataract, Hypogonadism, Diabetes mellitus, Macrocytic anemia, Dysphagia, Hypothyroidism, Ptosis ORPHA:98673
Diamond-Blackfan Anemia 5
Leukopenia, Short stature, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia, Hypospadias OMIM:612528
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Craniotelencephalic Dysplasia
Frontal encephalocele, Hydrocephalus, Septo-optic dysplasia, Microphthalmia, Lissencephaly, Micro... ORPHA:1528
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Arthritis, Purulent rhinitis, B lymphocytopenia, Pneumonia, Conjunctivitis, Otitis media, T lymph... OMIM:601457
Wt Limb-Blood Syndrome
Cryptorchidism, Irregular hyperpigmentation, Leukemia, Hypoplastic anemia, Thrombocytopenia, Panc... OMIM:194350
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Growth delay OMIM:229100
Wiskott-Aldrich Syndrome
Chronic otitis media, Hemolytic anemia, Abnormality of the menstrual cycle, Abnormal platelet fun... ORPHA:906
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Ermine Phenotype
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow OMIM:227010
Split-Hand/Foot Malformation 6
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hand oligodactyly, Split hand, Split foot OMIM:225300
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Diabetes mellitus, Diabetes insipidus, Sideroblastic anemia, Thrombocytopen... OMIM:598500
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Pancytopenia, Type I diabetes mellitus, T-cell acute lymphobla... OMIM:620044
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Blepharitis, Slow-growing hair, Sparse hair, Sparse eyelashes, Eczema, Sparse s... OMIM:618535
Xeroderma Pigmentosum
Cataract, Freckling, Cryptorchidism, Decreased testicular size, Hypogonadism, Hypopigmented skin ... ORPHA:910
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Melanin pigment aggregation in ha... OMIM:607624
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Meckel Syndrome, Type 2
Encephalocele, Polydactyly, Meningocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly,... OMIM:603194
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Pancreatitis, Macrocytic anemia, Thrombocytopenia ORPHA:27
Craniotelencephalic Dysplasia
Frontal encephalocele, Absent septum pellucidum, Microphthalmia, Optic nerve hypoplasia, Lissence... OMIM:218670
Split-Hand/Foot Malformation 1
Foot oligodactyly, Ectrodactyly, Syndactyly, Broad hallux, Clinodactyly, Triphalangeal thumb, Han... OMIM:183600
Celiac Disease, Susceptibility To, 1
Delayed puberty, Iron deficiency anemia, Stomatitis, Recurrent aphthous stomatitis, Eczema, Alope... OMIM:212750
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Microphthalmia, Anencep... OMIM:611134
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Anisopoikilocytosis, Hypogonadism, Anemia, Decreased mean corpuscular volume,... ORPHA:300298
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Conjunctivitis, Recurrent otitis media, Re... OMIM:613493
Joubert Syndrome 22
Postaxial foot polydactyly, Agenesis of cerebellar vermis, Temporal cortical atrophy, Microphthal... OMIM:615665
16Q24.3 Microdeletion Syndrome
Chronic otitis media, Cryptorchidism, Astigmatism, Upslanted palpebral fissure, Increased mean co... ORPHA:261250
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand ... OMIM:611561
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia, Preaxial polydactyly ORPHA:141333
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Majeed Syndrome
Hepatosplenomegaly, Delayed puberty, Inflammatory abnormality of the skin, Skin rash, Decreased m... OMIM:609628
Diamond-Blackfan Anemia 4
Short stature, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia, Growth delay, Neutropenia OMIM:612527
Congenital Varicella Syndrome
Cerebral cortical atrophy, Microcephaly, Microphthalmia ORPHA:291
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Zika Virus Disease
Maculopapular exanthema, Iris coloboma, Skin rash, Retinal pigment epithelial mottling, Intrauter... ORPHA:448237
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Spina bifida, Anencephaly ORPHA:2476
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Muckle-Wells Syndrome
Maculopapular exanthema, Leukocytosis, Recurrent aphthous stomatitis, Short stature, Conjunctival... OMIM:191900
Anemia, Sideroblastic, 1
Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate production, Macrocytic ... OMIM:300751
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... ORPHA:3202
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, B lymphocytopenia, Conjunctivitis... OMIM:612692
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida ORPHA:1104
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Extramedullary hematopoiesis, Anemia, Intrauterine growth retardation, Increased mean corpuscular... OMIM:617021
Muckle-Wells Syndrome
Delayed puberty, Anemia, Recurrent aphthous stomatitis, Skin rash, Uveitis, Short stature, Arthri... ORPHA:575
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Diabetes mellitus, Short stature, Sideroblastic anemia, Thrombocytopenia, Thiamin... OMIM:249270
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia OMIM:613839
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... OMIM:616689
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Thrombocytopenia, Short stature, Megaloblastic anemia ORPHA:49827
Congenital Erythropoietic Porphyria
Keratoconjunctivitis, Anisocytosis, Seborrhoeic blepharitis, Reticulocytosis, Facial hypertrichos... ORPHA:79277
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia universalis, Asplenia, Chronic active hepatitis, Hypoparathyroidism, Pigmentary retinopa... OMIM:240300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism, Long proximal phalanx of finger, Congenital hip dislocation, Slender distal ph... OMIM:603546
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Hypotrichosis 8
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... OMIM:278150
Lissencephaly 8
Type II lissencephaly, Polymicrogyria, Occipital encephalocele, Microphthalmia, Hypoplasia of the... OMIM:617255
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Polydactyly, Hydrocephalus, Syndactyly, Microphthalmia, Megalencephaly, Progressi... OMIM:602501
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Hyperactivity, Synophrys, Downslanted palpebral fissures, Attention deficit hyper... OMIM:614294
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Reticulocytosis, Anemia, Short stature, Anemia of inadequate production, Small nail... OMIM:615631
Ifap Syndrome 2
Cataract, Keratoconjunctivitis sicca, Posterior blepharitis, Angular cheilitis, Nail dystrophy, S... OMIM:619016
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Hepatoerythropoietic Porphyria
Keratoconjunctivitis, Seborrhoeic blepharitis, Corneal ulceration, Facial hypertrichosis, Hemolyt... ORPHA:95159
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
3-4 finger syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypopl... OMIM:609432
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Prominent protruding coccyx, Bilateral microphthalmos, Hydranencephaly, ... ORPHA:2839
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Macrocephaly, Cerebral atrophy, Spindle-shaped finger, Cutaneous syndactyly, Delayed epiphyseal o... ORPHA:166024
Eec Syndrome
Hypoplasia of the thymus, Nail pits, Generalized hypopigmentation, Entropion, Fine hair, Corneal ... ORPHA:1896
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Macrothrombocytopenia, Anisocytosis, Cryptorchidism, Hypochromic anemia, Anemia of inadequate pro... ORPHA:67044
Imerslund-Gräsbeck Syndrome
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... ORPHA:35858
Brachydactyly Type B
Short distal phalanx of finger, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Syno... ORPHA:93383
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Bullet-shaped distal phalanx of the hallux, Microphthalmia, Long fingers... ORPHA:1617
Hydrocephalus, Absent septum pellucidum, Microphthalmia, Anencephaly, Postaxial hand polydactyly,... ORPHA:2189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Focal cortical dysplasia, Hydrocephalus, Cardiomyopathy, Microphthalmia, Abnormal left ventricula... OMIM:613155
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Corneal scarring, Loss of eyelashes, Alopecia, Short stature, Hyperpigmentation... OMIM:263700
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Seckel Syndrome 2
Microphthalmia, Microcephaly, Cerebellar hypoplasia, Heart murmur, Clinodactyly of the 5th finger OMIM:606744
Septooptic Dysplasia
Short finger, Optic disc hypoplasia, Polydactyly, Absent septum pellucidum, Optic nerve hypoplasi... OMIM:182230
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Nail dysplasia, Nail dystrophy, Anemia, Corneal scarring, Alopecia, Dysphagia, Growth d... OMIM:226600
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism, Pure red cell aplasia, Anemia, Reticular hyperpigmentation, Sho... OMIM:618165
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613265
Non-Functioning Pituitary Adenoma
Hypopituitarism, Abnormality of the pituitary gland, Central adrenal insufficiency, Abnormality o... ORPHA:91349
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Growth delay OMIM:612561
Cleft Lip With Or Without Cleft Palate
Median cleft lip and palate, Median cleft lip, Non-midline cleft lip, Non-midline cleft palate, S... ORPHA:1991
Diamond-Blackfan Anemia
Epicanthus, Acute myeloid leukemia, Leukopenia, Pure red cell aplasia, Low anterior hairline, Mac... ORPHA:124
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Limb-Mammary Syndrome
Freckling, Nail dysplasia, Primary amenorrhea, Hypoplastic nipples, Lacrimal duct atresia, Absent... ORPHA:69085
Methylcobalamin Deficiency Type Cble
Intrauterine growth retardation, Macrocytic anemia, Increased mean corpuscular volume, Pancytopen... ORPHA:2169
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Recurrent otitis ... OMIM:619774
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Brachydactyly Type B2
Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal bones, Short toe, Short d... ORPHA:140908
Late-Onset Isolated Acth Deficiency
Graves disease, Premature ovarian insufficiency, Vitiligo, Adrenocorticotropin deficient adrenal ... ORPHA:199299
Bardet-Biedl Syndrome 22
Macrocephaly, Postaxial foot polydactyly, Microcephaly, Polydactyly OMIM:617119
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Griscelli Syndrome
Iris hypopigmentation, Abnormal eyelash morphology, Leukopenia, Abnormal eyebrow morphology, Hypo... ORPHA:381
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Cheilitis, Corneal erosion, Abnormality of the nail, Bl... ORPHA:37
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Camptodactyly of finger, Hallux valgus, Spina bifida, Scapular wi... ORPHA:1327
Combined Oxidative Phosphorylation Deficiency 18
Hypersegmentation of neutrophil nuclei, Intrauterine growth retardation, Macrocytic anemia OMIM:615578
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 4-5 toe syndactyly, 1-2 toe syndactyly, Split hand, Split foot OMIM:616890
Czeizel-Losonci Syndrome
2-3 finger syndactyly, 3-4 finger syndactyly, Hydrocephalus, Spina bifida, Myelomeningocele, Ectr... ORPHA:2437
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Cerebellar hypoplasia, Microphthalmia, Hydrocephalus OMIM:614830
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Recurrent pneumonia, Recurrent otitis media, Lymphadenopathy, Bronchiecta... OMIM:240500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Partial agenesis of the corpus callosum, Hypoplasia of the pons, Simplified gyr... OMIM:616171
Kid Syndrome
Onychogryposis, Keratoconjunctivitis sicca, Trichilemmoma, Punctate keratitis, Sparse eyebrow, Na... ORPHA:477
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Anonychia, Anemia, Growth delay, Scarring alopecia of scalp, Nail dystrophy, Ab... ORPHA:79402
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Shwachman-Diamond Syndrome
Hypopituitarism, Diabetes mellitus, Macrocytic anemia, Acute myeloid leukemia, Pancreatic hypopla... ORPHA:811
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Abnormal hemoglobin, Anemia, Thrombocytopenia, Splenomegaly ORPHA:231393
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Skin rash, Uveitis, Arthritis, Conjunctivitis OMIM:120100
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly OMIM:605967
Bardet-Biedl Syndrome 7
Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly OMIM:615984
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Anemia of inadequate production, Ery... OMIM:224120
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Ambiguous genitalia OMIM:209970
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macr... OMIM:300835
Juvenile Xanthogranuloma
Myeloproliferative disorder, Uveitis, Blepharitis, Iritis, Multiple cafe-au-lait spots, Asymmetry... ORPHA:158000
Curry-Jones Syndrome
Finger syndactyly, Microphthalmia, Toe syndactyly, Broad thumb, Abnormality of thumb phalanx, Pre... ORPHA:1553
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Camptodactyly, 2-3 finger syndactyly, 3-4 finger syndactyly, 2-4 finger sy... OMIM:225280
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Microphthalmia, Isolated 8
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia OMIM:615113
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Microcephaly, Microphthalmia ORPHA:3469
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Infantile Liver Failure Syndrome 1
Macrocytic anemia, Anemia OMIM:615438
Onychotrichodysplasia And Neutropenia
Curly eyelashes, Trichorrhexis nodosa, Curly hair, Chronic neutropenia, Short eyelashes, Concave ... OMIM:258360
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... OMIM:615550
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Erythroderma, Pustule OMIM:614328
Hartsfield Syndrome
Encephalocele, Lobar holoprosencephaly, Microphthalmia, Aplasia/Hypoplasia of the corpus callosum... ORPHA:2117
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplastic nipples, Sparse eyebrow, Nail dystrophy, Facial hirsutism, Blepharophimosis, Absence ... OMIM:604292
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Short stature ORPHA:2760
Splenogonadal Fusion With Limb Defects And Micrognathia
Stillbirth, Multiple unerupted teeth, Crowded maxillary incisors OMIM:183300
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Hallux valgus, Toe syndactyly, Short middle phalanx of the 5th finger, Sh... ORPHA:93409
17Q23.1Q23.2 Microdeletion Syndrome
Chronic otitis media, Long eyelashes, Shawl scrotum, Epicanthus, Blepharitis, Intrauterine growth... ORPHA:261279
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy, Arthritis OMIM:617772
Moebius Syndrome
Epicanthus, Blepharitis, Breast aplasia, Dysphagia, Multiple cafe-au-lait spots, Corneal opacity,... ORPHA:570
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Dominant Beta-Thalassemia
Hepatosplenomegaly, Delayed puberty, Hypopituitarism, Anisocytosis, Extramedullary hematopoiesis,... ORPHA:231226
Dyskeratosis Congenita, Autosomal Recessive 2
Reticulated skin pigmentation, Testicular atrophy, Nail dystrophy, Bone marrow hypocellularity, T... OMIM:613987
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Short stature, Increased mean corpuscular ... ORPHA:98870
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia, Menorrhagia OMIM:616176
Cockayne Syndrome Type 2
Cryptorchidism, Hypermelanotic macule, Uveitis, Intrauterine growth retardation, Developmental ca... ORPHA:90322
Proteus Syndrome
Downslanted palpebral fissures, Depigmentation/hyperpigmentation of skin, Limbal dermoid, Splenom... OMIM:176920
Hyperlysinemia, Type I
Ectopia lentis, Hyperactivity, Anemia OMIM:238700
Intellectual Developmental Disorder, X-Linked 109
Epicanthus, Hyperactivity, Agitation, Intrauterine growth retardation, Short stature, Recurrent h... OMIM:309548
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Intrauterine growth retardation, Corneal opacity ORPHA:1980
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Hemochromatosis, Type 3
Anemia, Lymphopenia, Arthritis, Hyperpigmentation of the skin, Impotence, Hypogonadotropic hypogo... OMIM:604250
Alazami-Yuan Syndrome
Long eyelashes, Cryptorchidism, Hyperactivity, Synophrys, Low anterior hairline, Thick eyebrow, S... OMIM:617126
Dermatopathia Pigmentosa Reticularis
Alopecia of scalp, Reticular hyperpigmentation, Abnormal conjunctiva morphology, Nail dystrophy OMIM:125595
Autosomal Agammaglobulinemia
Chronic otitis media, Epicanthus, Skin rash, Arthritis, Hepatitis, Sinusitis, Recurrent skin infe... ORPHA:33110
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Microphthalmia, Macrocephaly at birth ORPHA:324416
Vexas Syndrome
Inflammatory abnormality of the skin, Nasal chondritis, Macrocytic anemia, Arthritis, Thrombocyto... OMIM:301054
Fraxe Intellectual Disability
Epicanthus, Hyperactivity, Agitation, Intrauterine growth retardation, Short stature, Recurrent h... ORPHA:100973
Epicanthus, Brittle hair, Keratoconjunctivitis sicca, Fragile nails, Sparse scalp hair, Cryptorch... ORPHA:33364
Frontonasal Dysplasia 1
Pericallosal lipoma, Camptodactyly, Anterior basal encephalocele, Microphthalmia, Postaxial hand ... OMIM:136760
Cockayne Syndrome Type 1
Cataract, Cryptorchidism, Anemia, Hypermelanotic macule, Pigmentary retinopathy, Uveitis, Male hy... ORPHA:90321
Temtamy Syndrome
Macrocephaly, Genu varum, Microphthalmia, Clinodactyly of the 5th finger, Short toe, Aplasia/Hypo... ORPHA:1777
Waardenburg Syndrome, Type 2A
Synophrys, Premature graying of hair, Albinism, Numerous pigmented freckles, White eyelashes, Par... OMIM:193510
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Epicanthus, Hyperactivity, Short stature, Increased serum serotonin, Hirsutism ORPHA:85288
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... OMIM:603902
Beta-Thalassemia Major
Hepatosplenomegaly, Delayed puberty, Hypopituitarism, Anisopoikilocytosis, Extramedullary hematop... ORPHA:231214
Holocarboxylase Synthetase Deficiency
Keratoconjunctivitis, Alopecia, Growth delay, Thrombocytopenia, Perioral eczema, Eczema ORPHA:79242
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypoplastic nipples, Sparse eyebrow, Sparse hair, Blepharophimosis, Rectovaginal fistula, Absence... OMIM:129900
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia OMIM:250940
Refractory Celiac Disease
Increased proportion of HLA DR+ T cells, Inflammatory abnormality of the skin, Normocytic anemia,... ORPHA:398063
Carpenter Syndrome
Polydactyly, Umbilical hernia, Finger syndactyly, Syndactyly, Preaxial foot polydactyly, Toe synd... ORPHA:65759
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Enteroviral hepatitis, Short stature, Decreased response to growth hormone stimu... OMIM:307200
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Spina bifida, Tricuspid... ORPHA:1120
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Iris hypopigmentation, External genital hypoplasia, Short stature, Hypopigmentation o... ORPHA:177910
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Megaloblastic anemia OMIM:236270
Dihydropyrimidine Dehydrogenase Deficiency
Agenesis of corpus callosum, Microcephaly, Microphthalmia, Cerebral atrophy OMIM:274270
Angioma, Tufted