Gene Summary

Name:
Hbs1-like (S. cerevisiae)
Synonyms:
2810035F15Rik,  eRFS

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral content Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 1.54×10-06
vertebral transformation Hbs1ltm1a(KOMP)Wtsi HOM Early adult 7.17×10-05
thrombocytosis Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 4.14×10-05
abnormal bone structure Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 7.41×10-06
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 0.00
increased circulating total protein level Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 8.47×10-07
increased circulating alkaline phosphatase level Hbs1ltm1a(KOMP)Wtsi HOM Early adult 7.63×10-05
improved glucose tolerance Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 9.75×10-06
decreased T-helper cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased memory-marker CD4-negative NK T cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased effector memory CD8-positive, alpha-beta T cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 0.00
corneal opacity Hbs1ltm1a(KOMP)Wtsi HOM Early adult 6.25×10-05
decreased monocyte cell number Hbs1ltm1a(KOMP)Wtsi HOM Early adult 0.00
increased leukocyte cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 6.49×10-07
increased circulating iron level Hbs1ltm1a(KOMP)Wtsi HOM Early adult 2.80×10-06
increased circulating cholesterol level Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 2.26×10-05
abnormal cranium morphology Hbs1ltm1a(KOMP)Wtsi HOM Early adult 4.96×10-09
increased mean corpuscular hemoglobin Hbs1ltm1a(KOMP)Wtsi HOM Early adult 2.56×10-05
increased CD5-positive gamma-delta T cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 0.00
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal tail morphology Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 1.58×10-05
increased circulating HDL cholesterol level Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 8.47×10-05
increased circulating free fatty acids level Hbs1ltm1a(KOMP)Wtsi HOM Early adult 1.09×10-05
male infertility Hbs1ltm1a(KOMP)Wtsi HOM Early adult 0.00
increased regulatory T cell number Hbs1ltm1a(KOMP)Wtsi HOM Early adult 0.00
abnormal retina morphology Hbs1ltm1a(KOMP)Wtsi HOM Early adult 9.25×10-06
decreased mature B cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 0.00
increased mean platelet volume Hbs1ltm1a(KOMP)Wtsi HOM Early adult 6.73×10-05
increased CD4-positive, alpha-beta memory T cell number Hbs1ltm1a(KOMP)Wtsi HOM Early adult 0.00
decreased total body fat amount Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 5.25×10-05
decreased Langerhans cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal snout morphology Hbs1ltm1a(KOMP)Wtsi HOM Early adult 2.36×10-07
increased effector memory CD8-positive, alpha-beta T cell number Hbs1ltm1a(KOMP)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

Bone marrow immunophenotyping

Images associated with FACS analysis

18 Images

X-ray

XRay Images Forepaw

15 Images

Anti-nuclear antibody assay

Images

14 Images

Eye Morphology

Images Ophthalmoscopy

21 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Eye Morphology

Images Slit Lamp

7 Images

Spleen Immunophenotyping

Images associated with FACS analysis

18 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Ear epidermis immunophenotyping

Images

63 Images

Legacy Phenotype Associated Images

View all 272 images

View all 39 images

View all 28 images

Human diseases caused by Hbs1l mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hbs1l by phenotypic similarity.

<
Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... ORPHA:158048
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, Ob... ORPHA:399805
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Delayed femoral head ossification, Leukocytosis ORPHA:168621
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Cellulitis, Sterile abscess, Hepatosplenom... OMIM:604416
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Hypoalbuminemia, A... OMIM:209950
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Increased mean corpuscular he... ORPHA:90041
Mandibuloacral Dysplasia
High palate, Hyperinsulinemia, Acroosteolysis of distal phalanges (feet), Increased circulating f... ORPHA:2457
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... ORPHA:86841
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... OMIM:210250
Pelger-Huet Anomaly
Failure to thrive, Gingival overgrowth, Kyphosis, Median cleft palate, Abnormality of the dentiti... OMIM:169400
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Menorrhagia, Leuk... OMIM:155100
Alpha-Mannosidosis
Dental malocclusion, Gingival overgrowth, Type II diabetes mellitus, Narrow palate, Kyphosis, Mac... ORPHA:61
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Anemia, Thromb... ORPHA:3319
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Cellulitis, Abnormally low T cell receptor excision circle level, Hepat... OMIM:618986
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
Fechtner syndrome
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Developmental cataract, Gia... OMIM:153640
Lathosterolosis
High palate, Anisopoikilocytosis, Schistocytosis, Short nose, Cataract, Hyperbilirubinemia, Micro... OMIM:607330
Myh9-Related Disease
Neutrophil inclusion bodies, Menorrhagia, Congenital thrombocytopenia, Increased mean platelet vo... ORPHA:182050
Multiple Myeloma
Splenomegaly, Osteopenia, Hyperproteinemia, Elevated circulating creatinine concentration, Hyperc... ORPHA:29073
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Temple Syndrome
High palate, Cleft palate, Small for gestational age, Maturity-onset diabetes of the young, Micro... OMIM:616222
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Primary amen... OMIM:612526
Progeria-Short Stature-Pigmented Nevi Syndrome
Dental malocclusion, Multiple joint contractures, Hyperpigmented nevi, Selective tooth agenesis, ... ORPHA:2959
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Thrombocythemia 3
Thrombocytosis OMIM:614521
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Dental malocclusion, Cortical sclerosis, Back pain, Oste... ORPHA:210110
Takenouchi-Kosaki Syndrome
Flared nostrils, Wide mouth, Dental malocclusion, Bulbous nose, Inguinal hernia, Short philtrum, ... OMIM:616737
Omenn Syndrome
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... OMIM:603554
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Osteoporosis, Impaired glucose tolerance, Hypertriglyceridem... OMIM:610947
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Thrombocythemia 2
Thrombocytosis OMIM:601977
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Slc35A1-Cdg
Cellulitis, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... OMIM:267700
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Vertebral clefting, Depressed nasal bridge, Patchy distortion of vertebrae, ... OMIM:155050
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Menorrhagia, Macrothrombocytopenia, Giant plate... OMIM:231200
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Cofs Syndrome
Abnormality of retinal pigmentation, Everted lower lip vermilion, Micrognathia, Camptodactyly of ... ORPHA:1466
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Everted lower lip vermilion, Delayed eruption of te... ORPHA:181393
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:614034
Mulibrey Nanism
Dental malocclusion, Hypodontia, Depressed nasal bridge, Pigmentary retinopathy, Thickened cortex... OMIM:253250
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Celiac Disease, Susceptibility To, 1
Infertility, Failure to thrive, Hypocalcemia, Steatorrhea, Osteoporosis, Iron deficiency anemia, ... OMIM:212750
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Johanson-Blizzard Syndrome
Failure to thrive, Hypoproteinemia, Abnormality of the dentition, Oligodontia, Abnormality of the... ORPHA:2315
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Mental Retardation, Buenos Aires Type
High palate, Failure to thrive, Dental malocclusion, Wide mouth, Fair hair, Blue irides, Carious ... OMIM:249630
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL ch... OMIM:615703
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Increased size of the mandible, Thrombocytopenia, Smooth philtrum OMIM:300048
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... ORPHA:824
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Thrombocytosis, A... OMIM:615934
Immunodeficiency 92
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... OMIM:619652
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Failure to thrive, Dental malocclusion, Micrognathia, Osteopenia, Elevated circulati... ORPHA:329178
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Kyphosis, Rod-cone dystrophy, Steatorrhea, Hypergonadotropic hypogonadism, Ost... OMIM:212065
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Dental malocclusion, Narrow mouth, Open bite, Depressed nasal bridge, Abnormality of... ORPHA:1327
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... ORPHA:83451
Schimke Immuno-Osseous Dysplasia
Broad nasal tip, Depressed nasal bridge, Short neck, Platyspondyly, Abnormal proportion of naive ... ORPHA:1830
Poems Syndrome
Sclerosis of skull base, Sclerosis of foot bone, Polycythemia, Papilledema, Thrombocytosis, Erect... ORPHA:2905
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, He... OMIM:603553
Cohen Syndrome
Lumbar hyperlordosis, Macrodontia of permanent maxillary central incisor, High, narrow palate, Th... OMIM:216550
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Mcdonough Syndrome
Dental malocclusion, Kyphosis, Open bite, Cachexia, Short philtrum, Micrognathia, Scoliosis, Prom... ORPHA:2471
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Trichohepatoenteric Syndrome 1
Failure to thrive, Wide mouth, Narrow mouth, Depressed nasal ridge, Splenomegaly, Generalized hyp... OMIM:222470
17Q21.31 Microduplication Syndrome
High palate, Failure to thrive, Malar flattening, Micrognathia, Short philtrum, Abnormality of th... ORPHA:217340
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Micrognathia, Short neck, Short nose, Anteverted nares, Abnormal vertebral morpholo... ORPHA:2015
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Flared nostrils, Wide mouth, Dental malocclusion, Bulbous nose, Flexion contracture, Inguinal her... ORPHA:487796
Dengue Fever
Leukopenia, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Kyphosis, Micrognathia, Long philtrum, Scoliosis, Short nose, Anemia ORPHA:2598
Hemochromatosis, Type 3
Amenorrhea, Increased circulating ferritin concentration, Impotence, Lymphopenia, Hypogonadotropi... OMIM:604250
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Nephronophthisis
Anemia, Abnormality of retinal pigmentation ORPHA:655
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Potocki-Lupski Syndrome
High palate, Failure to thrive, Dental malocclusion, Wide mouth, Prominent nasal tip, Small for g... OMIM:610883
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Cholestasis, Progressive Familial Intrahepatic, 10
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... OMIM:619868
Syndromic Diarrhea
Lymphopenia, Inguinal hernia, Splenomegaly, Generalized hypopigmentation, Small for gestational a... ORPHA:84064
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Blackfan-Diamond Anemia
High palate, Depressed nasal bridge, Short neck, Reticulocytopenia, Increased mean corpuscular vo... ORPHA:124
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Abnormal bone structure, Anemia, Splenomegaly ORPHA:46532
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, H... OMIM:615688
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Malar flattening, Abnormality of the dentition, Retinal detachment,... OMIM:182290
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Hypoalbuminemia, Hypoproteinemia, Iron deficiency anemia OMIM:226300
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Rod-cone dystrophy, Malar flattening, Patchy atrophy of the retinal pigment ... ORPHA:436245
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Smith-Magenis Syndrome
Cleft palate, Depressed nasal bridge, Short philtrum, Microcornea, Short nose, Tented upper lip v... ORPHA:819
Glycogen Storage Disease Vi
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... ORPHA:167
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated circulating c... OMIM:616828
Leptospirosis
Optic neuritis, Papilledema, Hyperproteinemia, Retinal hemorrhage, Chorioretinitis, Macular cotto... ORPHA:509
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Dental malocclusion, Wide mouth, Malar flattening, Everted lower lip vermilion, Micrognathia, Abn... ORPHA:85321
Beta-Ketothiolase Deficiency
Leukocytosis, Hyperammonemia, Hypoglycemia, Thrombocytosis, Hyperuricemia, Hyperglycemia ORPHA:134
Pycnodysostosis
High palate, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Spondylolist... ORPHA:763
Short Syndrome
Glucose intolerance, Dental malocclusion, Lipoatrophy, Hypodontia, Inguinal hernia, Small for ges... OMIM:269880
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Mottled pigmentation, Retinal dystrophy, Widely spaced teeth OMIM:616108
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Enamel hypoplasia, Thrombocytosis, Impaired ... OMIM:243150
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Corneal opacity, Reduced bone mineral density, Thin vermilion border, Scoliosis, Ab... ORPHA:2370
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Convex nasal ridge, Retrognathia, Micrognathia, ... OMIM:613684
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
High palate, Maturity-onset diabetes of the young, Micrognathia, Short philtrum, Scoliosis, Wide ... ORPHA:254531
Ramon Syndrome
Failure to thrive, Abnormality of retinal pigmentation, Narrow palate, Abnormal anterior chamber ... ORPHA:3019
Acrodysostosis 1 With Or Without Hormone Resistance
Blue irides, Calvarial hyperostosis, Broad nasal tip, Depressed nasal bridge, Delayed eruption of... OMIM:101800
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Narrow mouth, Cleft palate, Small for gestational age, Maturity-onset diabetes of th... ORPHA:96184
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Dental malocclusion, Failure to thrive, Narrow palate, Macrodontia, An... OMIM:617883
Glutathione Synthetase Deficiency
Hemolytic anemia, Pigmentary retinopathy, Neutropenia OMIM:266130
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Alveolar ridge overgrowth, Hypocalcemia, Hypoproteinemia, Splenomegaly, Cleft palate... OMIM:235255
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal degeneration, Retinal pigment epithelial mottling, Scoli... OMIM:618889
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Malar flattening, Retr... ORPHA:1390
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hyperinsulinemia, Abnormal retinal vascular morphology, Type... ORPHA:791
Galactokinase Deficiency
Hyperinsulinemia, Nuclear cataract, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Increased... ORPHA:79237
Laron Syndrome
Tooth agenesis, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Micrognathia, Hypop... ORPHA:633
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Lymphocytosis, Iron deficiency anemia, Thr... OMIM:301074
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Lumbar hyperlordosis, Broad nasal tip, Scoliosis, Incisor macrodontia, Cafe-... OMIM:619719
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen... ORPHA:52901
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Hemifacial Atrophy, Progressive
Dental malocclusion, Kyphosis, Short mandibular rami, Poliosis, Delayed eruption of teeth, Tongue... OMIM:141300
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Bone marrow hypocellularity, Refractory anemia, Acute myeloid leukemia OMIM:616871
Winchester Syndrome
Kyphosis, Gingival overgrowth, Corneal opacity, Osteolysis involving tarsal bones, Carpal osteoly... OMIM:277950
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Irregular vertebral endplates, Kyphoscoliosis, Hypodontia, Join... OMIM:612350
Cortical Blindness, Retardation, And Postaxial Polydactyly
Long philtrum, Short nose, Microretrognathia OMIM:218010
Mccune-Albright Syndrome
Dental malocclusion, Monostotic fibrous dysplasia, Hypophosphatemia, Fibrous dysplasia of the bon... ORPHA:562
Diamond-Blackfan Anemia 1
High palate, Failure to thrive, Cleft upper lip, Cleft palate, Congenital hypoplastic anemia, Ret... OMIM:105650
Sjögren-Larsson Syndrome
Kyphosis, Abnormality of retinal pigmentation, Macular degeneration, Retinopathy, Scoliosis, Gene... ORPHA:816
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Impotence, Impaired glucose to... OMIM:606069
Galactosialidosis
Abnormal vertebral morphology, Corneal opacity, Abnormality of the vertebral column, Cherry red s... ORPHA:351
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytosis, Nonketotic hypoglycemia, Hyperuricemia,... ORPHA:20
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... OMIM:614669
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Splenomegaly, Steatorrhea, Hepatosplenomegaly, Leukopeni... OMIM:278000
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... ORPHA:477781
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Hypogonadotropic hypogonadism, A... ORPHA:848
Noonan Syndrome 4
Dental malocclusion, Wide mouth, Blue irides, Depressed nasal bridge, Short neck, Scoliosis, Larg... OMIM:610733
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Congenital Generalized Lipodystrophy
Amenorrhea, Failure to thrive, Hyperinsulinemia, Bone cyst, Macroglossia, Increased C-peptide lev... ORPHA:528
Glycogen Storage Disease Ixa1
Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Congenital Rubella Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Splenomegaly, Aplasia/Hypoplasia of the iri... ORPHA:290
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Butterfly vertebrae, Hypodontia, Small for gestational age, Retrognathia, Optic ... OMIM:301056
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum, Macrodontia, Opti... ORPHA:193
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... OMIM:144750
Sialidosis Type 2
Kyphosis, Corneal opacity, Flexion contracture, Splenomegaly, Inguinal hernia, Abnormal macular m... ORPHA:87876
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Megalocornea-Intellectual Disability Syndrome
High palate, Kyphosis, Everted lower lip vermilion, Abnormal anterior chamber morphology, Microgn... ORPHA:2479
Autosomal Dominant Severe Congenital Neutropenia
Premature loss of teeth, Periodontitis, Lymphopenia, Rhinitis, Cellulitis, Osteopenia, Eosinophil... ORPHA:486
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Blepharophimosis-Impaired Intellectual Development Syndrome
Dental malocclusion, Wide mouth, Flexion contracture, Short philtrum, Scoliosis, Microdontia, Ena... OMIM:619293
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H... ORPHA:94093
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Oculodentodigital Dysplasia, Autosomal Recessive
Failure to thrive, Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central ... OMIM:257850
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Reduced subcutaneous adipose tissue, Hyperinsulinemia, Osteopenia, Mottled pigmentat... OMIM:248370
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Elevated circulating creatine kinase concentration, Scoliosis, Pigme... ORPHA:370968
Seckel Syndrome 1
High palate, Dental malocclusion, Convex nasal ridge, Cleft palate, Micrognathia, Scoliosis, Enam... OMIM:210600
Zimmermann-Laband Syndrome
High palate, Wide mouth, Bulbous nose, Supernumerary tooth, Hypodontia, Cleft palate, Splenomegal... ORPHA:3473
Congenital Toxoplasmosis
Anemia, Thrombocytopenia, Failure to thrive in infancy, Abnormality of retinal pigmentation ORPHA:858
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Opacification of the corneal stroma, Hemolytic anemia, H... OMIM:245900
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Kyphoscoliosis, Prominent nose OMIM:615541
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Hypercholesterolemia OMIM:301033
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Macroglossia, Malar flattening, Micrognathia, Depressed nasal bridg... OMIM:242860
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Anemia, Splenomegaly ORPHA:75563
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Splenomegaly, Menorrhagia, Hemolytic anemia, Increased mean platelet volume, Stomatocytosis OMIM:153670
Multiple Mitochondrial Dysfunctions Syndrome 5
Elevated circulating creatine kinase concentration, Pigmentary retinopathy OMIM:617613
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatosple... OMIM:619644
Mucolipidosis Type Iii
Corneal opacity, Cleft palate, Reduced bone mineral density, Inguinal hernia, Abnormal form of th... ORPHA:577
Hamamy Syndrome
High palate, Dental malocclusion, Wide mouth, Hypodontia, Inguinal hernia, Hypochromic anemia, Ev... OMIM:611174
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Dental malocclusion, Mandibular prognathia, Anteverted nares, High palate OMIM:618292
Poikiloderma With Neutropenia
Reticular hyperpigmentation, Splenomegaly, Retrognathia, Micrognathia, Leukopenia, Elevated circu... OMIM:604173
Craniosynostosis 3
Dental malocclusion, Sagittal craniosynostosis, Left unicoronal synostosis, Right unicoronal syno... OMIM:615314
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Congenital Disorder Of Glycosylation, Type Iu
High palate, Micrognathia, Elevated circulating creatine kinase concentration, Scoliosis, Optic a... OMIM:615042
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly ORPHA:75234
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 104
T lymphocytopenia, Splenomegaly OMIM:608971
Lethal Osteosclerotic Bone Dysplasia
Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Short neck, Gingival fibr... ORPHA:1832
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Myopathy, Myofibrillar, 8
High palate, Dental malocclusion, Spinal rigidity, Micrognathia, Elevated circulating creatine ki... OMIM:617258
Cockayne Syndrome Type 1
Failure to thrive, Widely spaced primary teeth, Anodontia, Hypermelanotic macule, Increased blood... ORPHA:90321
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Hyperinsulinemia, Mottled pigmentation, Acroosteolysis of distal phalanges (feet), S... OMIM:608612
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, B lymphocytopenia, Lipodystrophy, Increase... OMIM:618048
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Hypercholesterolemia ORPHA:263501
Maxillonasal Dysplasia
Tooth agenesis, Cleft palate, Open bite, Vertebral clefting, Depressed nasal ridge, Depressed nas... ORPHA:1248
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Sialidosis Type 1
Kyphosis, Corneal opacity, Cherry red spot of the macula, Splenomegaly, Retinopathy, Scoliosis, A... ORPHA:812
Schimke Immunoosseous Dysplasia
Bulbous nose, Lumbar hyperlordosis, Lymphopenia, Hypermelanotic macule, Small for gestational age... OMIM:242900
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Wide mouth, Kyphosis, Everted lower lip vermilion, Short philtrum, Scoliosis, Truncal obesity, Sh... ORPHA:2429
Cardiofaciocutaneous Syndrome 1
High palate, Bulbous nose, Abnormality of the dentition, Osteopenia, Short neck, Depressed nasal ... OMIM:115150
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Robinow Syndrome, Autosomal Dominant 2
Dental malocclusion, Wide mouth, Gingival overgrowth, Kyphoscoliosis, Triangular mouth, Cleft pal... OMIM:616331
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Abnormal bone ossification, Increased bone mineral density, Cleft palate, Micrognath... ORPHA:163649
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Pierpont Syndrome
Failure to thrive, Decreased body weight, Prominent median palatal raphe, Long upper lip, Everted... OMIM:602342
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Retinal pigment epithelial mottling, Carious teeth, Optic at... OMIM:216400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... ORPHA:169154
Eem Syndrome
Abnormality of retinal pigmentation, Retinopathy, Microdontia, Abnormality of dental morphology, ... ORPHA:1897
Cri-Du-Chat Syndrome
High palate, Microretrognathia, Inguinal hernia, Small for gestational age, Short philtrum, Short... OMIM:123450
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Dental malocclusion, Kyphosis, Abnormality of the dentition, Scoliosis, Mandibular prognathia ORPHA:1858
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Cartilage-Hair Hypoplasia
Failure to thrive, Gingival overgrowth, Hypocalcemia, Abnormality of retinal pigmentation, Abnorm... ORPHA:175
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Generalized hypopigmentation, Hypoammonemia, Abnormality of the dentition, Platyspondy... ORPHA:534
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Dysmenorrhea, Splenomegaly, Ketotic hypoglycemia, Irregular menstruation, Oligomenorrhea, Elevate... ORPHA:79240
Sclerosteosis 1
Cortically dense long tubular bones, Dental malocclusion, Tooth malposition, Malar flattening, Pa... OMIM:269500
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
High palate, Failure to thrive, Kyphoscoliosis, Flexion contracture, Retrognathia, Buphthalmos, O... OMIM:618005
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Depressed nasal bridge, Hypoplasia of the thymus, Decreased proportion... OMIM:617241
Developmental And Epileptic Encephalopathy 73
Failure to thrive, Flexion contracture, Inguinal hernia, Scoliosis, Narrow nasal bridge, Short no... OMIM:618379
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Brucellosis
Failure to thrive, Orchitis, Elevated circulating C-reactive protein concentration, Leukocytosis,... ORPHA:1304
Gm1 Gangliosidosis
Depressed nasal ridge, Broad nasal tip, Depressed nasal bridge, Platyspondyly, Optic atrophy, Man... ORPHA:354
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Malar flattening, Retrognathia, Broad nasal tip, Short nose, Open mouth, Obesity, Failure to thri... OMIM:613670
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Microcornea, Carious teeth, Optic atrophy, Mandibular progna... OMIM:133540
Doors Syndrome
High palate, Bulbous nose, Macrodontia of permanent maxillary central incisor, Cleft palate, Abno... ORPHA:79500
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Abnormality of retinal pigmentation, Hyperinsulinemia, Type II diabetes mellitus, Hyper... ORPHA:3085
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Macrothrombocytopenia OMIM:124900
Non-Distal Trisomy 10Q
High palate, Convex nasal ridge, Everted lower lip vermilion, Micrognathia, Depressed nasal bridg... ORPHA:1695
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Broad nasal tip, Depressed nasal bridge, Retinal detachment,... OMIM:152950
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Dental malocclusion, Failure to thrive, Anodontia, Supernumerary tooth, Narrow palat... OMIM:264475
Immunodeficiency 14A, Autosomal Dominant
Cellulitis, Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cell... OMIM:615513
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Lumbar hyperlordosis, Macroglossia, Flexion contracture, Leu... ORPHA:505248
Bleeding Disorder, Platelet-Type, 19
Anemia, Menorrhagia, Macrothrombocytopenia OMIM:616176
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Flexion contracture, Retrognathia, Open mouth, Broad nasal tip, Recurrent uppe... ORPHA:391372
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Alveolar ridge overgrowth, Hypocalcemia, Hypoproteinemia, Splenomegaly, Inguinal her... ORPHA:1655
Hepatocellular Carcinoma
Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Polycythemia, Hypoglycemia, Thrombocy... ORPHA:88673
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Intellectual Disability, Buenos-Aires Type
High palate, Dental malocclusion, Open bite, Reduced bone mineral density, Abnormality of dental ... ORPHA:3079
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Dental malocclusion, Mandibular prognathia, High palate, Arthrogryposis multiplex congenita OMIM:608931
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Retrognathia, Depressed nasal bridge, Short nose, Anteverted nares OMIM:614069
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Malar flattening, Inguinal hernia, Abnormal anterior ... ORPHA:3163
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Bulbous nose, Craniosynostosis, Long nose, Depressed nasal bridge, Severe platyspondyly, Short no... ORPHA:508533
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Leukocytosis, Hypercholesterolemia ORPHA:90065
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Retinal coloboma, Short neck, Long philtrum, Delay... OMIM:157980
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Dysmenorrhea, Splenomegaly, Oligomenorrhea, Irregular menstruation, Abnormal erythrocyte enzyme l... ORPHA:264580
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Secondary amenorrhea, Increased serum... OMIM:613313
Harel-Yoon Syndrome
Corneal opacity, Micrognathia, Scoliosis, Optic atrophy, Short nose, Developmental cataract, Mand... OMIM:617183
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Peroxisomal Acyl-Coa Oxidase Deficiency
Rod-cone dystrophy, Depressed nasal bridge, Pigmentary retinopathy, Optic atrophy, Wide nasal bridge OMIM:264470
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Corneal ulceration, Band keratopathy, Retinal degeneration, ... ORPHA:191
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Hurler Syndrome
Retinal degeneration, Calvarial hyperostosis, Broad nasal tip, Depressed nasal bridge, Short neck... OMIM:607014
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Small for gestational age, Hypoketotic hypoglycemi... ORPHA:26793
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Depressed nasal bridge, Long philtrum, Short nose, Obesity OMIM:605309
Harrod Syndrome
High palate, Dental malocclusion, Failure to thrive, Narrow mouth, Kyphosis, Long nose, Scoliosis... ORPHA:2115
Acrootoocular Syndrome
Failure to thrive, Dental malocclusion, Hyperpigmented nevi, Supernumerary tooth, High, narrow pa... ORPHA:2980
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Carious teeth, Hyperuricemia, Abnormal myeloid leukocyte morphology, Irregular menstr... ORPHA:79259
Schwartz-Jampel Syndrome
High palate, Pursed lips, Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly,... ORPHA:800
Mental Retardation, X-Linked 91
High palate, Obesity, Short nose, Macrodontia OMIM:300577
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Everted lower lip vermilion, Micrognathia, Depressed nasal bridge, Lon... ORPHA:261120
Megalocornea-Mental Retardation Syndrome
High palate, Micrognathia, Osteopenia, Megalocornea, Long philtrum, Bifid uvula, Depressed nasal ... OMIM:249310
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Kyphoscoliosis, Lumbar hyperlordosis, Delayed ossification of carpal bones, Bulbous nose, Malar f... OMIM:271510
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Ring Chromosome 14 Syndrome
High palate, Depressed nasal ridge, Depressed nasal bridge, Short neck, Pigmentary retinopathy, A... OMIM:616606
Leukodystrophy, Hypomyelinating, 24
Cataract, Flexion contracture, B lymphocytopenia OMIM:619851
Lcat Deficiency
Corneal opacity, Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol... ORPHA:650
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Thick upper lip vermilion, Macrocytic anemia, Short nose, Neut... OMIM:612563
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood vessels, Rod-cone ... OMIM:615990
Three M Syndrome 2
High palate, Dental malocclusion, Lumbar hyperlordosis, Prominent nasal tip, Malar flattening, Sm... OMIM:612921
Momo Syndrome
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Abnormal bone ossificat... ORPHA:2563
Oliver-Mcfarlane Syndrome
Retinal degeneration, Small for gestational age, Hypogonadotropic hypogonadism, Pigmentary retino... OMIM:275400
Leigh Syndrome With Leukodystrophy
Optic atrophy, Failure to thrive, Anemia, Pigmentary retinopathy ORPHA:255241
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
High palate, Failure to thrive, Malar flattening, Flexion contracture, Retrognathia, Micrognathia... ORPHA:98791
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Menorrhagia, Decreased platelet glycoprotein Ib... ORPHA:274
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Joint contracture of the hand, Elevated circulating long chain fatty acid conc... OMIM:214110
Aceruloplasminemia
Increased circulating ferritin concentration, Abnormality of retinal pigmentation, Diabetes melli... ORPHA:48818
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Corneal opacity, Median cleft palate, Microcornea ORPHA:2432
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, B lymphocytopenia, T lymphocytopenia OMIM:601457
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation, Non-midline cleft lip ORPHA:1995
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Dental malocclusion, Narrow mouth, Lumbar hyperlordosis, Convex nasal ridge, Cleft p... ORPHA:251028
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... OMIM:618849
Mcdonough Syndrome
Dental malocclusion, Kyphoscoliosis, Micrognathia, Short philtrum, Furrowed tongue, Prominent nos... OMIM:248950
Cogan Syndrome
Keratitis, Leukocytosis, Thrombocytosis, Anemia, Conjunctivitis ORPHA:1467
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplasia of the thymus, B lymphocytopenia, T lymp... OMIM:619313
Stickler Syndrome Type 1
Cleft palate, Retinal detachment, Long philtrum, Platyspondyly, Abnormality of vertebral epiphysi... ORPHA:90653
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Menorrhagia, Autoimmune thrombocytopenia, Thrombocytosis, Abnormal er... ORPHA:324636
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Sinusitis, Lymphopenia, Recurrent upper respiratory tract infections, B lympho... ORPHA:277
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Rod-cone dystrophy, Abetalipoproteinemia, Elevated circulating creatine ki... ORPHA:96180
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Lead Poisoning
Infertility, Decreased male libido, Increased LDL cholesterol concentration, Reduced sperm motili... ORPHA:330015
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, Persistence of primary teeth, Malar flattening, Ectopia pupillae, Oligodonti... OMIM:618727
Scheie Syndrome
Corneal opacity, Spondylolisthesis, Retinal degeneration, Depressed nasal bridge, Short neck, Wid... OMIM:607016
Mu-Heavy Chain Disease
Splenomegaly, Osteoporosis, Abnormal B cell count, Osteolysis, Anemia ORPHA:100024
Coffin-Lowry Syndrome
High palate, Wide mouth, Depressed nasal bridge, Delayed eruption of teeth, Advanced eruption of ... ORPHA:192
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Abnormality of retinal pigm... ORPHA:14
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility