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

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Mesenteric lymph node  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 0.0% (0 of 3)
Axial skeleton N/A heterozygote 100% (3 of 3)
Brain N/A heterozygote Ambiguous
Central nervous system ganglion N/A heterozygote 0.0% (0 of 3)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 3)
Ear N/A heterozygote 100% (3 of 3)
Embryo N/A heterozygote 100% (3 of 3)
Outer ear N/A heterozygote 100% (3 of 3)
Eye N/A heterozygote 0.0% (0 of 3)
Footplate N/A heterozygote 100% (3 of 3)
Forearm N/A heterozygote 100% (3 of 3)
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote 100% (3 of 3)
Fronto-nasal process N/A heterozygote 100% (3 of 3)
Gut N/A heterozygote 100% (3 of 3)
Handplate N/A heterozygote 100% (3 of 3)
Head mesenchyme N/A heterozygote 100% (3 of 3)
Head N/A heterozygote 100% (3 of 3)
Heart ventricle N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote 0.0% (0 of 3)
Hindbrain N/A heterozygote 0.0% (0 of 3)
Hindlimb N/A heterozygote 100% (3 of 3)
Intestine N/A heterozygote 100% (3 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower leg N/A heterozygote 100% (3 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Mandibular process N/A heterozygote 100% (3 of 3)
Maxillary process N/A heterozygote 66.67% (2 of 3)
Meckel's cartilage N/A heterozygote 33.33% (1 of 3)
Midbrain N/A heterozygote 0.0% (0 of 3)
Nasal septum N/A heterozygote 0.0% (0 of 3)
Nose N/A heterozygote 100% (3 of 3)
Notochord N/A heterozygote 0.0% (0 of 3)
Oral cavity N/A heterozygote 100% (3 of 3)
Outflow tract N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
Chorioallantoic placenta N/A heterozygote Not available
Skeleton N/A heterozygote 100% (3 of 3)
Skin N/A heterozygote 100% (3 of 3)
Spinal cord N/A heterozygote 33.33% (1 of 3)
Tail somite N/A heterozygote 100% (3 of 3)
Tail N/A heterozygote 0.0% (0 of 3)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 33.33% (1 of 3)
Upper arm N/A heterozygote 100% (3 of 3)
Upper leg N/A heterozygote 0.0% (0 of 3)
Vibrissa N/A heterozygote 100% (3 of 3)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
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 1.69% (1 of 59)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
external ear 1.37% (1 of 73)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forearm 0.33% (1 of 304)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
head mesenchyme 1.69% (1 of 59)
heart 0.2% (1 of 507)
heart ventricle 1.69% (1 of 59)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
intestine 1.75% (1 of 57)
liver 0.2% (1 of 502)
lower leg 0.33% (1 of 304)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
meckel's cartilage 0.0%
midbrain 0.2% (1 of 507)
nasal septum 1.69% (1 of 59)
nose 1.3% (1 of 77)
notochord 1.69% (1 of 59)
oral cavity 0.2% (1 of 502)
outflow tract 1.69% (1 of 59)
pericardium 1.85% (1 of 54)
placenta 16.67% (7 of 42)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
thoracic vertebral cartilage condensation 1.85% (1 of 54)
trunk mesenchyme 1.69% (1 of 59)
upper arm 0.33% (1 of 304)
upper leg 0.33% (1 of 304)
vibrissa 1.37% (1 of 73)

Associated Images

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

Adult LacZ

LacZ Images Section

160 Images

Human diseases caused by Snai2 mutations

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

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

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

Disease Similarity of
Matching phenotypes Source
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Cleft palate OMIM:119550
Cardiomegaly OMIM:227150
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Uvula, Bifid
Bifid uvula OMIM:192100
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Cleft Soft Palate
Cleft soft palate OMIM:119570
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Growth delay, Hypogonadism, Cafe-au-lait spot, Anemia, Splenomegaly, De... OMIM:615234
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hyperpigmentation of the skin, Splenomegaly, Mediastina... ORPHA:158029
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Phosphoglycerate Dehydrogenase Deficiency
Developmental cataract, Megaloblastic anemia, Hypertonia, Growth delay, Thrombocytopenia, Spastic... OMIM:601815
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Clouston Syndrome
Onycholysis, Small nail, Absent pubic hair, Absent axillary hair, Slow-growing hair, Nail dysplas... OMIM:129500
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Flotch Syndrome
Abnormal eyelid morphology, Abnormal eyelash morphology, Inflammatory abnormality of the eye, Ble... ORPHA:2045
Wolfram Syndrome 1
Tremor, Pigmentary retinopathy, Megaloblastic anemia, Hypothyroidism, Growth delay, Ataxia, Sider... OMIM:222300
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Neutropenia, Conjunctivitis, Splenomegaly, Short sta... OMIM:604173
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin, Anemia OMIM:617409
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Growth delay, Short stature, Hyperactivity, Downslanted palpebral fissures, Atten... OMIM:614294
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Congenital Amegakaryocytic Thrombocytopenia
Melanocytic nevus, Thrombocytopenia, Short stature, Anemia, Abnormal hemoglobin ORPHA:3319
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Dyskeratosis Congenita, X-Linked
Cryptorchidism, Premature graying of hair, Pterygium of nails, Ridged nail, Pancytopenia, Bone ma... OMIM:305000
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, Ataxia, White eyelashes... ORPHA:2884
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Conjunctivitis, Anemia, Splenomegaly,... OMIM:603552
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Paraparesis, Tetraparesis, Ataxia, Thrombocytopenia, Anemia, Leukopenia, Pancreatitis, ... ORPHA:27
Bifid Uvula
Bifid uvula, Submucous cleft soft palate, Cleft lip ORPHA:99771
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus, Thrombocytopenia, Acute myeloid leukemia, Hyperpigm... OMIM:619151
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Infertility, Cataract OMIM:300719
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Lymphopenia, Septic arthritis, Pancyto... OMIM:617780
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cleft palate, Non-midline cleft lip, Tooth agenesis ORPHA:1074
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Downslanted palpebral fissures, Sparse eyelashes, Macrocytic anemia OMIM:300946
Autoimmune Polyendocrinopathy Type 4
Vitiligo, Iridocyclitis, Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadot... ORPHA:227990
Cartilage-Hair Hypoplasia
Sparse hair, Sparse eyelashes, Sparse facial hair, Impaired lymphocyte transformation with phytoh... OMIM:250250
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Deafness, Congenital, With Total Albinism
Hypogonadism, Albinism OMIM:220900
Diamond-Blackfan Anemia 8
Growth delay, Neutropenia, Short stature, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Autoimmune Polyendocrinopathy Type 3
Vitiligo, Leukopenia, Autoimmune hypoparathyroidism, Non-caseating epithelioid cell granulomatosi... ORPHA:227982
Dyskeratosis Congenita
Premature graying of hair, Bone marrow hypocellularity, Anemia, Neoplasm of the pancreas, Aplasti... ORPHA:1775
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Chronic otitis media, Neutropenia, Hypopigmented skin patches, Th... ORPHA:47
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Mild postnatal growt... OMIM:224120
Autosomal Dominant Optic Atrophy, Classic Form
Spastic paraplegia, Hypothyroidism, Gait disturbance, Hemiparesis, Ataxia, Cataract, Ptosis, Diab... ORPHA:98673
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed puberty, Psoriasiform dermatitis, Blepharitis, Short stature OMIM:616834
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Neutropenia, Conjunctivitis, Anemia OMIM:616740
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Scarring alopecia of scalp, Nail dysplasia, Conjunctivitis, Cataract, Keratitis, Sp... OMIM:612843
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Ectropion, Conjunctivitis, Keratitis, Sparse and thin eyebrow, Blepharitis, Sparse ... OMIM:308800
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Chemosis, Keratitis, Keratoconjunctivitis sicca, Loss of eyelashes, B... ORPHA:163934
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Vaginal dryness, Lacrimal duct atresia, Absent eyelashes, Anonychia, Hyperconvex nail, Ankyloblep... OMIM:106260
Lichen Planus Pemphigoides
Conjunctivitis, Abnormality of the nail, Hypopigmented streaks, Blepharitis ORPHA:254478
Skin rash, Cutaneous abscess, Leukocytosis, Pneumonia, Lymphadenopathy, Thrombocytopenia, Conjunc... ORPHA:3392
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Allergic rhinitis, Eosinophilia ORPHA:26137
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cryptorchidism, Abnormality of extrapyramidal motor function, Ankylo... ORPHA:910
Immunodeficiency, Common Variable, 8, With Autoimmunity
Vitiligo, Bronchiectasis, Thyroiditis, Generalized lymphadenopathy, Pneumonia, Pancytopenia, Lymp... OMIM:614700
Combined Oxidative Phosphorylation Deficiency 18
Intrauterine growth retardation, Tremor, Dysmetria, Macrocytic anemia OMIM:615578
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent otitis media, Hirsutism, Neutropenia, Thrombocytop... OMIM:617475
Cerebellar Ataxia And Albinism
Head tremor, Albinism, Ataxia OMIM:258300
Dyskeratosis Congenita, Autosomal Recessive 2
Growth delay, Thrombocytopenia, Nail dysplasia, Testicular atrophy, Pancytopenia, Reticulated ski... OMIM:613987
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Epicanthus, Granulocytopenia, Sparse and thin eyebrow, Short stature, Downslanted palpebral fissu... OMIM:606164
Griscelli Syndrome, Type 2
Hemophagocytosis, Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of m... OMIM:607624
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, B lymphocytopenia, Otitis media,... OMIM:601457
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Growth delay OMIM:243320
Olmsted Syndrome, X-Linked
Posterior blepharitis, Blepharitis OMIM:300918
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Short stature, Hypopigmentation of hair, Neutropenia, Partial albinism ORPHA:90023
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Reticulocytopenia, Leukopenia, Short stature, Hypospadias, Macrocytic anemia OMIM:612528
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules OMIM:614072
Lassa Fever
Skin rash, Lethargy, Chemosis, Palpebral edema, Menometrorrhagia, Thrombocytopenia, Conjunctiviti... ORPHA:99824
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Hypothyroidism, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemi... OMIM:618849
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Eyelid myoclonus, Ataxia, Thrombocytopenia, Pancytopenia OMIM:613839
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Growth delay OMIM:229100
Fanconi Anemia, Complementation Group G
Growth delay, Neutropenia, Thrombocytopenia, Multiple cafe-au-lait spots, Anemia, Leukemia OMIM:614082
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Glandular hypospadias, Megaloblastic anemia, Abnormal erythrocyte morphology, Folate-unresponsive... ORPHA:2575
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Megaloblastic anemia, Thrombocytopenia, Short stature, Diabetes mellitus ORPHA:49827
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Infertility, Thrombocytosis, Thyroiditis, Stomatitis, Ataxia, Postnatal g... OMIM:212750
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Thiamine-responsive megaloblastic anemia, Ataxia, Sideroblastic anemia, Thrombocy... OMIM:249270
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ptosis, Splenomegaly, Ataxia, Macrocytic anemia OMIM:619046
Immunodeficiency 8
Lymphopenia, Hyperactivity OMIM:615401
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Blepharitis, Sparse eyelashes OMIM:618535
Candidiasis, Familial, 8
Seborrheic dermatitis, Blepharitis OMIM:615527
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse hair, Curly hair, Corneal opacity, Sparse and thin eyebrow, Brittle hair, Blepharitis, Pil... OMIM:602400
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Diabetes insipidus, Di... OMIM:598500
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypothyroidism, Growth delay, Reticulocytopenia, Anisopoikilocytosis, Hypogonadism, ... ORPHA:300298
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Myoclonus, Anemia OMIM:610539
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia, Generalized hypopigmentation, Growth delay OMIM:257790
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Majeed Syndrome
Skin rash, Microcytic anemia, Growth delay, Erythroid hyperplasia, Delayed puberty, Anemia of ina... OMIM:609628
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... OMIM:607594
Methylcobalamin Deficiency Type Cble
Lethargy, Lower limb hypertonia, Neutropenia, Postnatal growth retardation, Intrauterine growth r... ORPHA:2169
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Wt Limb-Blood Syndrome
Cryptorchidism, Irregular hyperpigmentation, Thrombocytopenia, Hypoplastic anemia, Pancytopenia, ... OMIM:194350
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Neutropenia, Pneumonia, Sinusitis, C... OMIM:601495
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Griscelli Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Premature graying of hair, Abnormality of neu... ORPHA:381
Cockayne Syndrome Type 2
Cryptorchidism, Developmental cataract, Male hypogonadism, Difficulty walking, Gait disturbance, ... ORPHA:90322
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Growth delay, Neutropenia, Reticulocytopenia, Short stature, Macrocytic anemia OMIM:612527
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Absent eyebrow, Cholelithiasis, Thrombocytopenia, Conjunctivitis, Corneal scarr... OMIM:263700
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Pure red cell aplasia, Persistence of hemoglobin F, ... ORPHA:124
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Ataxia, Ankle clonus, Pancytopenia, Thrombocytopenia,... OMIM:159550
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Ataxia, Thrombocytopenia, Leukopenia, Athetosis OMIM:229050
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Highly arched eyebrow, Upslanted palpebral fissure, Chronic otitis media, Thrombo... ORPHA:261250
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Congenital Erythropoietic Porphyria
Hemolytic anemia, Scleritis, Ectropion, Reticulocytosis, Seborrhoeic blepharitis, Recurrent bacte... ORPHA:79277
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia, Gait disturbance, Poor coordination OMIM:250940
Eec Syndrome
Urethral atresia, Nail pits, Corneal erosion, Coarse hair, Slow-growing hair, Hypoplasia of the t... ORPHA:1896
Late-Onset Isolated Acth Deficiency
Vitiligo, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:199299
Holocarboxylase Synthetase Deficiency
Lethargy, Growth delay, Perioral eczema, Ataxia, Thrombocytopenia, Alopecia, Eczema, Keratoconjun... ORPHA:79242
Lesch-Nyhan Syndrome
Dystonia, Abnormality of extrapyramidal motor function, Megaloblastic anemia, Podagra, Opisthoton... OMIM:300322
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Reticulocytosis, Growth delay, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Ane... OMIM:615631
Wiskott-Aldrich Syndrome
Chronic leukemia, Neutropenia, Anemia, Sinusitis, Eczema, Otitis media, Acute leukemia, Hypoplasi... ORPHA:906
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Male hypogonadism, Decreased circulating parathyroid hormone level, Decreased circulati... OMIM:240300
Cockayne Syndrome Type 1
Cryptorchidism, Tremor, Male hypogonadism, Pigmentary retinopathy, Difficulty walking, Gait distu... ORPHA:90321
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Hepatoerythropoietic Porphyria
Hemolytic anemia, Scleritis, Ectropion, Seborrhoeic blepharitis, Recurrent bacterial skin infecti... ORPHA:95159
Muckle-Wells Syndrome
Leukocytosis, Maculopapular exanthema, Conjunctivitis, Short stature, Recurrent aphthous stomatit... OMIM:191900
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Megaloblastic anemia, Gait disturbance, Lethargy OMIM:236270
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Conjunctivitis, Recurrent otitis media, Re... OMIM:613493
Zika Virus Disease
Skin rash, Myelitis, Retinal pigment epithelial mottling, Iris coloboma, Maculopapular exanthema,... ORPHA:448237
Muckle-Wells Syndrome
Skin rash, Uveitis, Conjunctivitis, Delayed puberty, Episcleritis, Anemia, Splenomegaly, Short st... ORPHA:575
Ebola Hemorrhagic Fever
Skin rash, Lethargy, Chemosis, Thrombocytopenia, Metrorrhagia, Leukopenia ORPHA:319218
Cryptorchidism, Hypertonia, Ridged nail, Neutropenia, Anemia, Eczema, Numerous pigmented freckles... ORPHA:33364
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Growth delay, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Ifap Syndrome 2
Posterior blepharitis, Atrichia, Sparse hair, Angular cheilitis, Cataract, Keratitis, Keratoconju... OMIM:619016
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Esophagitis, Developmental cataract, Megaloblastic anemia, Hypertonia, Athetosis, Spastic tetrapl... ORPHA:79351
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Testicular atrophy, Short stature, Anemia, Hypogonadism OMIM:618165
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Hypochromic anemia, Dystonia, Microcytic anemia, Chorea, Ptosis, Babinski sign, Choreoathetosis, ... OMIM:618451
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Skin rash, Incoordination, Lethargy, Megaloblastic anemia, Epicanthus, Neutropenia, Stomatitis, P... OMIM:277380
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Shwachman-Diamond Syndrome
Skin rash, Neutropenia, Pneumonia, Pancytopenia, Pancreatic hypoplasia, Anemia, Sinusitis, Leukop... ORPHA:811
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Hypocomplementemic Urticarial Vasculitis
Skin rash, Irregular hyperpigmentation, Uveitis, Ataxia, Hemiplegia/hemiparesis, Conjunctivitis, ... ORPHA:36412
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Lethargy, Megaloblastic anemia, Spastic ataxia, Increased mean corpuscular volume OMIM:277410
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Ambiguous genitalia OMIM:209970
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Limb-Mammary Syndrome
Lacrimal duct atresia, Freckling, Absent nipple, Bilateral breast hypoplasia, Aplasia of the ovar... ORPHA:69085
Juvenile Xanthogranuloma
Iritis, Asymmetry of iris pigmentation, Uveitis, Multiple cafe-au-lait spots, Myeloproliferative ... ORPHA:158000
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Uveitis, Conjunctivitis, Arthritis OMIM:120100
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Alazami-Yuan Syndrome
Low anterior hairline, Cryptorchidism, Highly arched eyebrow, Hirsutism, Long eyelashes, Synophry... OMIM:617126
Acrodermatitis Enteropathica
Pustule, Abnormality of the nail, Abnormal eyebrow morphology, Abnormal eyelid morphology, Cornea... ORPHA:37
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Hemolytic anemia, Chorea, Lymphopenia, Genital ulcers, Colitis, Thrombocytopenia, Ante... OMIM:616744
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Highly arched eyebrow, Hypertonia, Upslanted palpebral fissure, Epicanthus, Short... ORPHA:352490
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Hypertonia, Ataxia, Intrauterine... ORPHA:3322
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Cleft palate ORPHA:2521
Hemochromatosis, Type 3
Amenorrhea, Lymphopenia, Impotence, Neutropenia, Hyperpigmentation of the skin, Anemia, Hypogonad... OMIM:604250
Oslam Syndrome
Abnormality of neutrophils, Short stature, Increased mean corpuscular volume ORPHA:2760
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Intermediate Generalized Junctional Epidermolysis Bullosa
Abnormality of skin pigmentation, Anonychia, Growth delay, Scarring alopecia of scalp, Anemia, Sp... ORPHA:79402
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Erythroid hyperplasia, Sideroblastic ... OMIM:600462
Chediak-Higashi Syndrome
Giant melanosomes in melanocytes, Recurrent bacterial skin infections, Neutropenia, Giant neutrop... OMIM:214500
Hypopigmentation of hair, Tremor, Premature graying of hair, Abnormal testis morphology, Lymphope... ORPHA:100
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Anemia of inadequate production, Anemia, Splenomegaly, Sh... OMIM:613673
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Macrocytic anemia, Reticulocyto... OMIM:615550
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Short eyelashes, Curly hair, Chronic irritative conjunctivitis, Chronic neutropeni... OMIM:258360
Dyskeratosis Congenita, Autosomal Dominant 3
Cryptorchidism, Premature graying of hair, Growth delay, Ataxia, Intrauterine growth retardation,... OMIM:613990
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Cryptorchidism, Highly arched eyebrow, Moderate intrauterine growth retardation, Decreased cornea... ORPHA:293967
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Aicardi-Goutieres Syndrome 3
Dystonia, Chilblains, Thrombocytopenia, Hepatosplenomegaly, Spasticity OMIM:610329
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Multiple unerupted teeth OMIM:183300
Infantile Liver Failure Syndrome 1
Anemia, Macrocytic anemia OMIM:615438
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Growth delay, Nail dysplasia, Conjunctivitis, Corneal scarring, Cataract, Alopecia, Anemia, Nail ... OMIM:226600
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholecystitis, Epicanthus, Cholelithiasis, Normocytic anemia, No... OMIM:611881
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cryptorchidism, Nail pits, Dacryocystitis, Sparse axillary hair, Micropenis, Generalized hypopigm... OMIM:604292
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity, Intrauterine growth retardation ORPHA:1980
Beta-Thalassemia Major
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231214
17Q23.1Q23.2 Microdeletion Syndrome
Highly arched eyebrow, Chronic otitis media, Epicanthus, Long eyelashes, Short stature, Intrauter... ORPHA:261279
Classic Galactosemia
Cryptorchidism, Dystonia, Clumsiness, Speech apraxia, Decreased serum insulin-like growth factor ... ORPHA:79239
Vexas Syndrome
Chondritis of pinna, Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration o... OMIM:301054
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenia 2
Thrombocytopenia OMIM:188000
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy, Arthritis OMIM:617772
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Growth delay, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Short stature, Increased mean corpuscular ... ORPHA:98870
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Erythroderma, Blepharitis OMIM:614328
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hirsutism, Epicanthus, Increased serum serotonin, Cataract, Short stature, Hyperactivity ORPHA:85288
Familial Male-Limited Precocious Puberty
Long penis, Abnormal hair morphology, Oligospermia, Macroorchidism, Attention deficit hyperactivi... ORPHA:3000
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Follicular hype... OMIM:240500
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Dermatopathia Pigmentosa Reticularis
Alopecia of scalp, Reticular hyperpigmentation, Nail dystrophy, Abnormal conjunctiva morphology OMIM:125595
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Preeclampsia/Eclampsia 1
Thrombocytopenia, Intrauterine growth retardation OMIM:189800
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Epicanthus, Neutropenia, Conjunctivitis, Hepatit... ORPHA:33110
Refractory Celiac Disease
Iron deficiency anemia, Inflammatory abnormality of the skin, Microcytic anemia, Increased propor... ORPHA:398063
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Sparse hair, Woolly hair, Growth delay, Epicanthus, Nail dysplasia, Concave nail, Ker... OMIM:234050
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cryptorchidism, Nail pits, Dacryocystitis, Sparse axillary hair, Rectovaginal fistula, Micropenis... OMIM:129900
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Lethargy, Chorea, Growth delay, Neutropenia, Thrombocytopenia, Hemiplegia/hemiparesis, ... ORPHA:289916
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, Microcytic anemia, Epicanthus, HbH hemoglobin, Short stature, Aplasia/Hypoplasia ... ORPHA:98791
Microcytic anemia, Hypothyroidism, Ataxia, Cataract, Hypertrichosis, Spotty hyperpigmentation, De... ORPHA:324737
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Lymphopenia, Panniculitis, Thrombocytopenia, Sinusitis, Conjunctivitis, Anemia, Spleno... OMIM:617591
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Absent axillary hair, Splenomegaly OMIM:269600
Skin rash, Hemolytic anemia, Pericarditis, Thyroiditis, Abnormal lymphocyte morphology, Neoplasm ... ORPHA:99867
Diamond-Blackfan Anemia 7
Esophagitis, Recurrent otitis media, Growth delay, Neutropenia, Intrauterine growth retardation, ... OMIM:612562
Vitiligo, Severe periodontitis, Microcytic anemia, Parkinsonism, Type I diabetes mellitus, Type I... ORPHA:926
Mental Retardation, Autosomal Dominant 52
Cryptorchidism, Hyperactivity OMIM:617796
Transcobalamin Ii Deficiency
Lethargy, Neutropenia, Ataxia, Reticulocytopenia, Pancytopenia, Macrocytic anemia OMIM:275350
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatitis, Anemia, Splenomegaly, Hypogonadot... ORPHA:848
Congenital Rubella Syndrome
Skin rash, Abnormality of retinal pigmentation, Spastic diplegia, Corneal opacity, Aplasia/Hypopl... ORPHA:290
Moebius Syndrome
Epicanthus, Breast aplasia, Corneal opacity, Ptosis, Multiple cafe-au-lait spots, Hypogonadotropi... ORPHA:570
Thyrocerebrorenal Syndrome
Slurred speech, Thrombocytopenia, Myoclonus, Euthyroid goiter, Nephritis, Nonprogressive cerebell... ORPHA:3327
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Ocular albinism, Leukopenia, Hypopigmentation of the skin OMIM:614171
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Pontocerebellar Hypoplasia, Type 15
Dystonia, Hypertonia, Chronic neutropenia, Thrombocytopenia, Spastic tetraplegia, Anemia OMIM:619302
Dermatitis, Atopic
Keratoconus, Allergic rhinitis, Atopic dermatitis, Conjunctivitis, Cataract, Eczema, Recurrent sk... OMIM:603165
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Tremor, Premature graying of hair, Hypertonia, Ataxia, Generalized hype... ORPHA:33445
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Hypochromic anemia, Abnormality of neutrophils, Hypertonia, White hair, Oc... ORPHA:2720
Orofaciodigital Syndrome V
Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Median cleft lip OMIM:174300
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Crouzon Disease
Melanocytic nevus, Iris coloboma, Conjunctivitis, Ptosis, Hypopigmented skin patches ORPHA:207
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft soft palate, Bifid uvula, Cleft palate ORPHA:2736
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Conjunctivitis, Chronic sinusitis OMIM:612692
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Fraxe Intellectual Disability
Clumsiness, Epicanthus, Intrauterine growth retardation, Recurrent hand flapping, Hyperactivity, ... ORPHA:100973
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Rhizomelia OMIM:166990
H Syndrome
Bronchiectasis, Histiocytosis, Delayed puberty, Hypertrichosis, Decreased testicular size, Microp... ORPHA:168569
Cutaneous Mastocytoma
Abnormality of skin pigmentation, Hypermelanotic macule, Cutaneous mastocytosis ORPHA:79455
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Felty Syndrome
Recurrent pneumonia, Irregular hyperpigmentation, Pericarditis, Abnormal lymphocyte morphology, C... ORPHA:47612
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Difficulty walking, Hypothyroidism, Neutropenia, Ptosis, Spasticity OMIM:251900
Dyskeratosis Congenita, Autosomal Dominant 2
Premature graying of hair, Pancytopenia, Thrombocytopenia, Nail dysplasia, Reticulated skin pigme... OMIM:613989
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Hypochromic microcytic anemia, Sideroblastic anemia, Dysmetria, Intention tre... OMIM:301310
Insulin-Like Growth Factor I Deficiency
Intrauterine growth retardation, Ptosis, Short stature, Hyperactivity OMIM:608747
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Synophrys, Stereotypy, Hyperactivity, Short stature, Premature ovarian insufficiency ORPHA:391307
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Thrombocytopenia, Hypoplasia of the thymus, Eo... OMIM:603554
Gray Platelet Syndrome
Thrombocytopenia, Abnormal thrombocyte morphology, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Addison Disease
Vitiligo, Sparse axillary hair, Delayed puberty, Decreased circulating aldosterone level, Thiamin... ORPHA:85138
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Cafe-au-lait spot, Hyperactivity ORPHA:436151
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair, Short stature ORPHA:1355
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Splenomegaly, Erythroid hyperplasia, Anemia of inadequate production OMIM:237800
Schimke Immunoosseous Dysplasia
Lymphopenia, Elevated circulating thyroid-stimulating hormone concentration, Neutropenia, Coarse ... OMIM:242900
Dyskeratosis Congenita, Autosomal Dominant 1
Nail pits, Reticular hyperpigmentation, Premature graying of hair, Sparse hair, Interstitial pneu... OMIM:127550
Intellectual Developmental Disorder, X-Linked 109
Epicanthus, Hyperactivity OMIM:309548
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Sterile abscess... OMIM:604416
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Leukonychia Totalis
Abnormal eyelash morphology, Blepharitis ORPHA:2387
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Forsythe-Wakeling Syndrome
Thrombocytopenia, Growth delay, Short stature OMIM:613606
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Thrombocytopeni... ORPHA:229717
Childhood Apraxia Of Speech
High, narrow palate, Drooling, Submucous cleft hard palate ORPHA:209908
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Pericarditis, Leukocytosis, Orchitis, Uveitis, Conjunctivitis, Erysipelas... ORPHA:32960
Hemochromatosis, Type 2A
Infertility, Lethargy, Azoospermia, Amenorrhea, Hyperpigmentation of the skin, Splenomegaly, Hypo... OMIM:602390
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Male hypogonadism, Bilateral breast hypoplasia, Azoospermia, Oli... ORPHA:52901
Diamond-Blackfan Anemia 11
Abnormal eyelid morphology, Neutropenia, Anemia, Anemia of inadequate production, Short stature, ... OMIM:614900
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Mental Retardation, Autosomal Recessive 39
Stereotypy, Short stature, Synophrys, Hyperactivity OMIM:615541
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Leukocytosis, Hypothyroidism, Extramedullary hematopoiesis, Erythroi... ORPHA:231222
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, External genital hypoplasia, Short stature, Hypo... ORPHA:177910
Bone Marrow Failure Syndrome 4
Rhizomelia, Thrombocytopenia, Anemia, Leukopenia, Short stature, Eczema, Bone marrow hypocellularity OMIM:618116
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Iris hypopigmentation, Cataract, Spasticity ORPHA:67048
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Intrauterine growth retardation, Eczema, Postnatal growth retardation OMIM:233810
Cleft Lip/Palate
Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary lateral incisors, Abnormality of de... ORPHA:199306
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Ectropion, Recurrent otitis media, Corneal opacity, Synophrys, Conjunctivitis, Thick eyebrow, Ker... OMIM:602562
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Thick upper lip vermilion, Abnormality of the dentition, Thin upper lip vermilion... OMIM:226440
Avian Influenza
Myelitis, Lymphopenia, Pneumonia, Thrombocytopenia, Conjunctivitis, Hepatitis, Encephalitis, Leuk... ORPHA:454836
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia OMIM:133180
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia, Hypergonadotropic hypogonadism, Insulin-resistant diabetes ... ORPHA:2959
Trichothiodystrophy 1, Photosensitive
Freckling, Small nail, Sparse hair, Erythroderma, Tiger tail banding, Nail dystrophy, Cataract, K... OMIM:601675
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Albinism, Chronic oral candidiasis, Recurrent otitis media, Impaired ADP-ind... OMIM:608233
Proteus Syndrome
Ptosis, Splenomegaly, Downslanted palpebral fissures, Depigmentation/hyperpigmentation of skin, L... OMIM:176920
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hemolytic anemia, Reticulocytosis, Short stature, Decreased mean corpuscular volume, He... OMIM:611590
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Median cleft lip OMIM:155145
Fanconi Anemia, Complementation Group A
Abnormality of skin pigmentation, Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Re... OMIM:227650
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Eczema, Hypertrichosis, Microcytic anemia OMIM:612379
Adult Syndrome
Nail pits, Freckling, Absent nipple, Breast hypoplasia, Sparse axillary hair, Nasolacrimal duct o... OMIM:103285
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Spastic tetraplegia, Babinski sign, Hyperactivity OMIM:616657
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Epicanthus, Ataxia, Stereotypy, Involuntary ... OMIM:618218
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Adducted Thumbs Syndrome
High palate, High, narrow palate, Velopharyngeal insufficiency, Cleft palate OMIM:201550
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Postnatal growth retardation, Normochromic microcytic anemia, Hypospadias, Intrau... OMIM:610198
Transketolase Deficiency
Seborrheic dermatitis, Proportionate short stature, Uveitis, Conjunctivitis, Cataract, Secondary ... ORPHA:488618
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Recurrent sinusitis, Chronic atrophic gastritis, Thr... OMIM:616576
Fanconi Anemia, Complementation Group C
Cryptorchidism, Hypergonadotropic hypogonadism, Epicanthus, Neutropenia, Reticulocytopenia, Pancy... OMIM:227645
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation, Infertility, Maturity-onset diabetes of the young, Hypothyroidism OMIM:268040
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cryptorchidism, Absent eyebrow, Corneal opacity, Eczema, Abnormal eyelid morphology, Thin fingern... ORPHA:2273
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Thrombocytopenia, Gait imbalance, Anemia ORPHA:673
Thyrocerebroretinal Syndrome
Goiter, Slurred speech, Ataxia, Thrombocytopenia, Myoclonus, Nephritis OMIM:274240
Methylmalonic Acidemia With Homocystinuria Type Cblf
Skin rash, Lethargy, Megaloblastic anemia, Growth delay, Stomatitis, Neutropenia, Intrauterine gr... ORPHA:79284
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Alopecia, Eczema, Psoriasiform derm... OMIM:617443
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Elevated circulating thyroid-stimulating hormone concentration, Sparse... OMIM:256040
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Hereditary Folate Malabsorption
Megaloblastic anemia, Cheilitis, Pancytopenia, Thrombocytopenia, Eosinophilia ORPHA:90045
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Anemia, Splenomegaly, Hypersplenism, Abnorma... ORPHA:846
Pontocerebellar Hypoplasia, Type 14
Dystonia, Hypertonia, Chronic neutropenia, Thrombocytopenia, Spastic tetraplegia OMIM:619301
Arthrogryposis, Distal, Type 1C
Pursed lips, Thin vermilion border, Narrow mouth, Cleft lip, Cleft palate, Bifid uvula, High palate OMIM:619110
Hermansky-Pudlak Syndrome 5
Thrombocytopenia, Menorrhagia, Albinism, Ocular albinism OMIM:614074
Cogan Syndrome
Thrombocytosis, Scleritis, Leukocytosis, Uveitis, Conjunctivitis, Keratitis, Episcleritis, Anemia... ORPHA:1467
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Abnormality of retinal pigmentation, Thick hair, Epicanthus, Long eyelashes, T... ORPHA:505248
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Lethargy, Pigmentary retinopathy, Abnormality of extrapyramidal motor function, Megalobla... OMIM:277400
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Intrauterine growth retardation ORPHA:295
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Rhizomelia, Upslanted palpebral fissure, Postnatal growth retardation, Intrauteri... OMIM:611209
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Growth delay, Epicanthus, Synophrys, Hypogonadism, Stereotypy, Hyperactivity, Dow... ORPHA:3306
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
21Q22.11Q22.12 Microdeletion Syndrome
Almond-shaped palpebral fissure, Small nail, Stereotypical body rocking, Recurrent otitis media, ... ORPHA:261323
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Primary adrenal insufficiency, Hypothyroidism, Chronic hepatitis, Hepatit... OMIM:269200
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Pancytopenia, Anemia, Short stature, Bone marrow hypocellularity OMIM:616435
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent sinusitis, Colitis, Thrombocytopenia, Anemia, Splenomegaly, Hepatospl... OMIM:613101
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Agan... ORPHA:2919
Nijmegen Breakage Syndrome
T lymphocytopenia, Recurrent pneumonia, Bronchiectasis, Hyperactivity, Autoimmune hemolytic anemi... OMIM:251260
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Diamond-Blackfan Anemia 10
Growth delay, Reticulocytopenia, Short stature, Anemia, Macrocytic anemia OMIM:613309
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Lethargy, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Pancreatitis, Choreoathe... ORPHA:79312
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Hydrocele testis, Tremor, Upslanted palpebral fissure, Hyperpigme... ORPHA:280633
Fechtner syndrome
Developmental cataract, Thrombocytopenia, Leukocyte inclusion bodies, Menorrhagia, Giant platelet... OMIM:153640
Biotinidase Deficiency
Skin rash, Seborrheic dermatitis, Lethargy, Ataxia, Conjunctivitis, Alopecia, Splenomegaly, Recur... OMIM:253260
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short stature, Hyperactivity DECIPHER:19
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Thrombocytopenia, Myoclonus, Intention tremor OMIM:254900
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49