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Gene: Acvr2a MGI:102806

Gene Summary

Name:

activin receptor IIA

Synonyms:

Acvr2, tActRII, ActRIIa

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
abnormal craniofacial morphology	Acvr2a^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
decreased neutrophil cell number	Acvr2a^{tm1.1(KOMP)Vlcg}	HET	Early adult	9.53×10^-07
abnormal embryo size	Acvr2a^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
increased thigmotaxis	Acvr2a^{tm1.1(KOMP)Vlcg}	HET	Early adult	9.04×10^-05
preweaning lethality, incomplete penetrance	Acvr2a^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
decreased eosinophil cell number	Acvr2a^{tm1.1(KOMP)Vlcg}	HET	Early adult	2.15×10^-05
abnormal behavior	Acvr2a^{tm1.1(KOMP)Vlcg}	HET	Early adult	9.04×10^-05
anophthalmia	Acvr2a^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
microphthalmia	Acvr2a^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00

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lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Aorta	Section images	heterozygote	100% (2 of 2)
Brain	Section images	heterozygote	100% (2 of 2)
Brown adipose tissue	Section images	heterozygote	100% (1 of 1)
Eye	Section images	heterozygote	100% (2 of 2)
Lung	Section images	heterozygote	100% (2 of 2)
Skin	Section images	heterozygote	100% (2 of 2)
Spinal cord	Section images	heterozygote	100% (2 of 2)
Urinary bladder	Section images	heterozygote	100% (2 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	100% (2 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	Ambiguous
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	50% (1 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Axial skeleton	N/A	heterozygote	100% (2 of 2)
Brain	N/A	heterozygote	50% (2 of 4)
Central nervous system ganglion	N/A	heterozygote	100% (2 of 2)
Ear	N/A	heterozygote	50% (2 of 4)
Embryo	N/A	heterozygote	50% (2 of 4)
Eye	N/A	heterozygote	50% (2 of 4)
Footplate	N/A	heterozygote	50% (2 of 4)
Forebrain	N/A	heterozygote	50% (2 of 4)
Forelimb	N/A	heterozygote	50% (2 of 4)
Gut	N/A	heterozygote	100% (2 of 2)
Handplate	N/A	heterozygote	50% (2 of 4)
Head	N/A	heterozygote	50% (2 of 4)
Heart	N/A	heterozygote	50% (2 of 4)
Hindbrain	N/A	heterozygote	50% (2 of 4)
Hindlimb	N/A	heterozygote	50% (2 of 4)
Liver	N/A	heterozygote	50% (2 of 4)
Lung	N/A	heterozygote	50% (2 of 4)
Mandibular process	N/A	heterozygote	50% (2 of 4)
Maxillary process	N/A	heterozygote	50% (2 of 4)
Midbrain	N/A	heterozygote	50% (2 of 4)
Nose	N/A	heterozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	50% (2 of 4)
Skeleton	N/A	heterozygote	100% (2 of 2)
Skin	N/A	heterozygote	50% (2 of 4)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	heterozygote	50% (2 of 4)
Tail	N/A	heterozygote	50% (2 of 4)
Trachea	N/A	heterozygote	100% (2 of 2)
Urinary system	N/A	heterozygote	100% (2 of 2)

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
urinary bladder
uterus	0.0%
vascular system	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)
axial skeleton	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

Associated Images

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

Gross Morphology Embryo E14.5-E15.5

2 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Human diseases caused by Acvr2a 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.

Human diseases associated with Acvr2a (0 diseases)
Human diseases predicted to be associated with Acvr2a (1262 diseases)

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

The table below shows human diseases predicted to be associated to Acvr2a by phenotypic similarity.

Disease	Matching phenotypes	Source
Testicular Microlithiasis	Testicular microlithiasis	OMIM:610441
Spermatogenic Failure 57	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i...	OMIM:619528
Spermatogenic Failure 50	Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619145
Spermatogenic Failure 12	Azoospermia, Infertility, Abnormal male germ cell morphology	OMIM:615413
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Spermatogenic Failure 32	Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility	OMIM:619831
Testes, Rudimentary	Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia	OMIM:273150
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Spermatogenic Failure 25	Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia	OMIM:617960
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef...	OMIM:616788
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614837
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl...	OMIM:229070
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test...	ORPHA:98797
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone...	OMIM:616030
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism, Unilateral cryptorchidism	OMIM:219050
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome	Decreased testicular size	ORPHA:436144
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula...	OMIM:614897
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona...	OMIM:619326
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Trimethylaminuria	Splenomegaly, Depression, Anemia, Neutropenia	OMIM:602079
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Cryptorchidism, Non-midline cleft lip, Ankyloblepharon, Cleft palate, Tooth agenesis	ORPHA:1074
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the...	OMIM:614842
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Isochromosomy Yq	Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ...	ORPHA:98798
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Abnormality of the dentition, Primary amenor...	OMIM:300604
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614840
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Oocyte/Zygote/Embryo Maturation Arrest 10	Miscarriage, Female infertility	OMIM:619176
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Delayed Puberty, Self-Limited	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:619613
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size, Ptosis	ORPHA:1875
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve...	OMIM:614839
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l...	ORPHA:399808
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Hyperprolactinemia	Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration	OMIM:615555
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Epicanthus, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing horm...	OMIM:619761
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Polyendocrine-Polyneuropathy Syndrome	Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulat...	ORPHA:453533
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ...	ORPHA:137686
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Precocious Puberty, Male-Limited	Decreased testicular size, Precocious puberty in males	OMIM:176410
Spermatogenic Failure 11	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Endometriosis, Susceptibility To, 1	Decreased fertility, Dysmenorrhea, Endometriosis	OMIM:131200
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar...	OMIM:618078
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar...	ORPHA:432
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Gombo Syndrome	Microphthalmia	OMIM:233270
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s...	OMIM:301059
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Cleft palate, Secondar...	OMIM:615300
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Müllerian Aplasia And Hyperandrogenism	Synophrys, Cleft palate, Primary amenorrhea, Hypoplasia of the uterus, Short philtrum, Increased ...	ORPHA:247768
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Elsahy-Waters Syndrome	Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synoph...	OMIM:211380
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:617690
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Short philtrum, Decreased serum estradiol, Streak ovary, Premature ovarian insufficiency, Duplica...	ORPHA:572333
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft upper lip, Micrognathia, Cleft palate, Hypoplasia of the uterus, Azoospermia, Bicornuate ut...	OMIM:601076
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	ORPHA:3352
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cleft upper...	OMIM:610829
Blepharophimosis, Ptosis, And Epicanthus Inversus	Ptosis, Telecanthus, Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, ...	OMIM:110100
Anencephaly 2	Anophthalmia, Anencephaly	OMIM:619452
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Prim...	ORPHA:2975
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Primary amenorrhea, Ambiguous genitalia, Cl...	OMIM:264270
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Leukopenia, Irritability, Neutropenia, Thrombocytopenia	OMIM:229050
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Synophry...	ORPHA:364577
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ...	OMIM:273250
Microphthalmia, Syndromic 12	Intestinal malrotation, Micrognathia, Cryptorchidism, Cleft palate, Bicornuate uterus, Neonatal d...	OMIM:615524
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Orofaciodigital Syndrome Type 2	Natal tooth, Telecanthus, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveola...	ORPHA:2751
Mohr Syndrome	Telecanthus, Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, ...	OMIM:252100
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Ankyloblepharon, Abnormal oral frenulum morphology, Ag...	ORPHA:1401
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa...	OMIM:601349
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Intellectual Developmental Disorder, Autosomal Dominant 21	Epicanthus, Cryptorchidism, Cleft palate, Thin vermilion border, Long eyelashes, Narrow mouth, In...	OMIM:615502
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Nanophthalmos	Microphthalmia	ORPHA:35612
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Nanophthalmos 4	Microphthalmia	OMIM:615972
Ovarian Dysgenesis 3	Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ...	OMIM:614324
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:291
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Micrognathia, Agonadism, Cleft palate, Sex reversal, Hypoplasia o...	OMIM:154230
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Upslanted palpebral fissure, Decreased testicul...	ORPHA:93950
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Satoyoshi Syndrome	Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Sparse or absent eyelashes, Hypoplasia ...	ORPHA:3130
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cyclopia, Proptosis, Hypertelorism	ORPHA:2165
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li...	OMIM:119500
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide...	OMIM:300602
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Atkin-Flaitz Syndrome	Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macroorchidism...	ORPHA:1193
Arthrogryposis, Distal, Type 1C	Pursed lips, Cryptorchidism, Cleft lip, Cleft palate, Thin vermilion border, High palate, Narrow ...	OMIM:619110
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia...	OMIM:612965
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:607080
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Hooded eyelid, Anterior pituitary hypoplasia, Micrognathia, Synophrys, Sho...	OMIM:619841
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
W Syndrome	Telecanthus, Submucous cleft hard palate, Agenesis of maxillary central incisor, Broad uvula, Dow...	ORPHA:2804
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypospadias, Diastema, Cryptorchidism, Supernumerary tooth, Agenes...	OMIM:619718
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame...	OMIM:615363
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Bicornuate uterus, Bifid uvula, Cleft palate	OMIM:258320
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se...	ORPHA:206484
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Fetal Akinesia Deformation Sequence 4	Micrognathia, Cryptorchidism, High palate, Prenatal death, Neonatal death, Retrognathia	OMIM:618393
Fetal Akinesia Deformation Sequence 2	Tented upper lip vermilion, Micrognathia, Cryptorchidism, Cleft palate, High palate, Downslanted ...	OMIM:618388
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Mandibular aplasia, Hypoplasia of penis, Cyclopia	ORPHA:990
Gordon Syndrome	Cryptorchidism, High palate, Cleft palate	ORPHA:376
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre...	OMIM:146110
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Filippi Syndrome	Cryptorchidism, Thin vermilion border, Short philtrum, Hypodontia, Ambiguous genitalia, Microdont...	OMIM:272440
Mosaic Trisomy 14	Hypoplasia of penis, Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, Wide mouth, Ectopic...	ORPHA:1703
Solitary Median Maxillary Central Incisor	Cyclopia, Decreased response to growth hormone stimulation test, Hypotelorism, Coloboma, Anterior...	OMIM:147250
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Micrognathia, Cryp...	ORPHA:2166
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm...	OMIM:202150
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Seckel Syndrome 5	Hypospadias, Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft palate, Oligodontia, H...	OMIM:613823
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level...	OMIM:619938
Gordon Holmes Syndrome	Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame...	OMIM:212840
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Bloom Syndrome	Decreased fertility in females, Cryptorchidism, Agenesis of maxillary lateral incisor, Azoospermi...	OMIM:210900
8Q22.1 Microdeletion Syndrome	Telecanthus, Sparse eyelashes, Highly arched eyebrow, Abnormality of the dentition, Hypoplasia of...	ORPHA:178303
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein...	OMIM:619755
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Hydatidiform Mole	Hyperthyroidism, Miscarriage, Menometrorrhagia, Enlarged uterus	ORPHA:99927
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Ect...	ORPHA:1643
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Meckel Syndrome, Type 8	Encephalocele, Microphthalmia, Occipital encephalocele, Anophthalmia	OMIM:613885
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le...	ORPHA:99429
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Ptosis, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Intrauterine growth retardation	OMIM:616570
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cryptorchidism, Cleft lip, Hypogonadotropic hypogonadism, Cleft palate	OMIM:612370
Cornelia De Lange Syndrome 5	Telecanthus, Highly arched eyebrow, Micrognathia, Cryptorchidism, Synophrys, Cleft palate, Downtu...	OMIM:300882
Joubert Syndrome 26	Decreased response to growth hormone stimulation test, Cleft lip, Cleft palate, Central hypothyro...	OMIM:616784
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Zimmermann-Laband Syndrome	Telecanthus, Abnormal external genitalia, Micrognathia, Supernumerary tooth, Gingival fibromatosi...	ORPHA:3473
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc...	ORPHA:314478
17Q11.2 Microduplication Syndrome	Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Thin vermilion border, Macro...	ORPHA:139474
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Selective tooth agenesis, Supernumerary nipple, Conical tooth, Cleft upper lip, Hypo...	OMIM:106260
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Abnormal T cell morphology	OMIM:613502
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Rubinstein-Taybi Syndrome 2	Epicanthus, Intestinal malrotation, Highly arched eyebrow, Micrognathia, Carious teeth, Talon cus...	OMIM:613684
Aarskog-Scott Syndrome	Delayed eruption of teeth, Ptosis, Epicanthus, Cleft upper lip, Abnormality of the dentition, Cry...	ORPHA:915
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Hypoplasia of penis, Epicanthus, Hypergonadotropic hypogona...	ORPHA:10
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Blepharophimosis, Oral syn...	ORPHA:2016
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Highly arched e...	OMIM:615866
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Distal Deletion 10P	Hypoplasia of penis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Cleft palate, Polycysti...	ORPHA:1580
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Cryptorchidism, High palate, Decreased testicular size	ORPHA:85279
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Whim Syndrome 1	Neutropenia	OMIM:193670
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Decreased testicular size, Cleft palate	ORPHA:85273
Pseudotrisomy 13 Syndrome	Encephalocele, Cyclopia, Cryptorchidism, Hypotelorism, Bicornuate uterus, Micropenis	OMIM:264480
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Fanconi Anemia, Complementation Group J	Microphthalmia, Intrauterine growth retardation	OMIM:609054
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Ovarian Dysgenesis 10	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Cleft palate, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased te...	OMIM:614880
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size	OMIM:614962
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Cleft lip, Primary amenorrhea, High palate, Small ...	OMIM:612702
Microform Holoprosencephaly	Hypoplasia of penis, Hypotelorism, Ambiguous genitalia, Cyclopia, Panhypopituitarism, Iris coloboma	ORPHA:280200
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista...	ORPHA:280356
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre...	ORPHA:3464
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Blepharonasofacial Malformation Syndrome	Epicanthus, Telecanthus, Abnormal eyelash morphology, Cryptorchidism, Non-midline cleft lip, Clef...	ORPHA:1252
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas...	OMIM:611548
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Hydrocele testis, Notched primary central incisor	OMIM:620062
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
49,Xxxyy Syndrome	Mandibular prognathia, Decreased serum testosterone concentration, Epicanthus, External genital h...	ORPHA:261534
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Cleft upper lip, Bilateral cryptorchidism, Crypto...	OMIM:305400
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A...	OMIM:613986
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Cryptorchidism, Synophrys, Downturned corners of mouth, Wide mouth, Wid...	OMIM:618067
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Lujan-Fryns Syndrome	Dental crowding, Abnormality of the dentition, Micrognathia, Hypoplasia of the maxilla, High pala...	ORPHA:776
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh...	ORPHA:3411
Premature Ovarian Failure 8	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea	OMIM:184700
Trisomy 18	Microretrognathia, Spina bifida, Hypertelorism, Cryptorchidism, Anencephaly, Cyclopia, Abnormal m...	ORPHA:3380
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Ovarian Dysgenesis 1	Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea	OMIM:233300
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati...	OMIM:202010
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Seckel Syndrome 7	Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism	OMIM:614851
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Telecanthus, Hypospadias, Hypoplasia of the maxilla, Crypto...	OMIM:601499
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Synophrys, Upslanted palpebra...	OMIM:300143
Holoprosencephaly 3	Malar flattening, Cyclopia, Proptosis, Hypotelorism	OMIM:142945
Acrodysostosis	Delayed eruption of teeth, Mandibular prognathia, Epicanthus, Open bite, Cryptorchidism, Hypoplas...	ORPHA:950
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Peters-Plus Syndrome	Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Micrognathia, Hypoplasia ...	OMIM:261540
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy...	ORPHA:2495
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Cyclopia, Hypertelorism, Cryptorchidism, Spinal dysraphism, H...	ORPHA:2162
Satoyoshi Syndrome	Hypoplasia of the uterus, Amenorrhea, Malabsorption	OMIM:600705
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Nephrogenic diabetes insipidus, Supernumerary tooth, Hypoplasia of t...	ORPHA:3145
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu...	OMIM:241080
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Cowden Syndrome 5	Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Furro...	OMIM:615108
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Spars...	ORPHA:3353
Hemochromatosis, Type 3	Lymphopenia, Anemia, Neutropenia	OMIM:604250
Placental Site Trophoblastic Tumor	Miscarriage, Metrorrhagia, Amenorrhea	ORPHA:99928
Myhre Syndrome	Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Bifid ...	ORPHA:2588
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti...	ORPHA:3085
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Emotional lability, Neutropeni...	ORPHA:101096
Cortisone Reductase Deficiency 1	Precocious puberty, Infertility, Oligomenorrhea	OMIM:604931
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
16P13.11 Microdeletion Syndrome	Cryptorchidism, Cyclopia	ORPHA:261236
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Mmep Syndrome	Microphthalmia	ORPHA:3434
Meckel Syndrome 12	Micrognathia, Antecubital pterygium, Hypoplasia of the uterus, Vaginal atresia, Bifid uvula	OMIM:616258
Ovarian Fibroma	Gonadal calcification, Odontogenic keratocysts of the jaw, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Pituicytoma	Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis...	ORPHA:251623
Renpenning Syndrome	Mandibular prognathia, Epicanthus, Diabetes mellitus, Hypospadias, Macrodontia, High, narrow pala...	ORPHA:3242
Cowden Syndrome 6	Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Furro...	OMIM:615109
Hepatic Adenomas, Familial	Maturity-onset diabetes of the young, Polycystic ovaries	OMIM:142330
Premature Ovarian Failure 1	Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation	OMIM:311360
2Q32Q33 Microdeletion Syndrome	Dental crowding, Micrognathia, Cleft palate, Oligodontia, Thin vermilion border, High palate, Nar...	ORPHA:251019
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Cryptorchidism, Narrow palate, Short upper lip, Eversion of lateral third ...	ORPHA:364028
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft lip, Cleft palate, Micropenis, Decreased testicular size	OMIM:614838
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:79312
Premature Ovarian Failure 15	Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l...	OMIM:618096
46,Xy Sex Reversal 8	Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia	OMIM:614279
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Primary amenorrhea,...	OMIM:244200
Brachycephaly, Trichomegaly, And Developmental Delay	Epicanthus, Highly arched eyebrow, Supernumerary tooth, Submucous cleft hard palate, Thick lower ...	OMIM:617412
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Upper eyelid coloboma, Cleft pa...	OMIM:619736
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Irritability, Neutropenia, Thrombocytopenia	OMIM:246400
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, Microdontia, Bifid uvula, Hypospadias, Cleft upper lip,...	OMIM:129400
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Lowry-Maclean Syndrome	Hypospadias, Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorchidism, High, nar...	ORPHA:2409
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
6Q25 Microdeletion Syndrome	Epicanthus, External genital hypoplasia, Micrognathia, Cleft palate, Upslanted palpebral fissure,...	ORPHA:251056
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c...	ORPHA:95619
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Sparse eyelashes, Unilateral cryptorchidism, Micrognathia, Cleft palate, Downslanted palpebral fi...	OMIM:300946
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida	ORPHA:1104
Amed Syndrome, Digenic	Hypoplasia of the uterus, Telecanthus, Adrenal hypoplasia	OMIM:619151
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Abruzzo-Erickson Syndrome	Epicanthus, Hypospadias, Cryptorchidism, Coronal hypospadias, Cleft palate, Malar flattening, Abn...	ORPHA:921
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism...	OMIM:300219
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Primary amenorrhea,...	OMIM:147950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul...	OMIM:300068
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon...	ORPHA:478
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub...	ORPHA:90795
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ...	OMIM:618729
Burkitt Lymphoma	Neoplasm of the oral cavity, Intestinal obstruction, Abnormality of the ovary	ORPHA:543
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Proptosis	ORPHA:2776
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, External genital hypoplasia, Hypertelorism, Abnormal paranasal...	ORPHA:141099
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	ORPHA:2643
Bangstad Syndrome	Abnormality of the dentition, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ...	ORPHA:1227
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Telecanthus, Sparse eyelashes, Highly arched eyebrow, Abnormality of th...	OMIM:608156
46,Xx Sex Reversal 4	Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am...	OMIM:617480
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus, Death in infancy	OMIM:268650
48,Xxxy Syndrome	Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of penis, Small scrotum, Epicanthus,...	ORPHA:96263
Immunodeficiency 7	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia	OMIM:615387
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ...	OMIM:610628
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Distal Monosomy 7Q36	Hypoplasia of penis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Cleft palate, Wide mout...	ORPHA:1636
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,...	OMIM:209885
Aggressive Systemic Mastocytosis	Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increa...	ORPHA:98850
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Thick eyebrow, Hypoplasia of the maxilla, Synophrys, Upslanted palpebra...	OMIM:618737
Temple Syndrome	Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Cryptorchidism, Cleft pal...	OMIM:616222
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micrognathia, Epispadias, Abnormality of the gingiva, High, narrow palate, D...	ORPHA:3107
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Mandibular prognathia, Absent eyebrow, Epicanthus, Sparse eyelashes, M...	OMIM:268400
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Persistent Müllerian Duct Syndrome	Cryptorchidism, Male pseudohermaphroditism	ORPHA:2856
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Hypoplasia of the maxilla, Cryptorchidism, Cleft palate, High palate, Narrow m...	ORPHA:1307
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the...	ORPHA:180229
Myoectodermal Gonadal Dysgenesis Syndrome	Epicanthus, Elevated circulating luteinizing hormone level, Highly arched eyebrow, Sparse eyebrow...	OMIM:618419
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Cryptorchidism, Pyloric s...	ORPHA:96184
Cowden Syndrome 1	Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Furro...	OMIM:158350
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia	OMIM:617475
Hemochromatosis, Type 2A	Azoospermia, Hypogonadotropic hypogonadism, Infertility, Amenorrhea	OMIM:602390
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb...	OMIM:308240
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Hypospadias, Abnormal dental enamel morphology, ...	ORPHA:439822
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Eyelid...	ORPHA:861
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Axenfeld-Rieger Syndrome	Anal stenosis, Telecanthus, Hypospadias, Hypoplasia of the maxilla, Everted lower lip vermilion, ...	ORPHA:782
49,Xxxxy Syndrome	Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of penis, Small scrotum, Epicanthus,...	ORPHA:96264
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Highly arched eyebrow, Micrognathia, High, narrow palate, Incisor mac...	ORPHA:166108
Omodysplasia 2	Dyspareunia, Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Micrognathia, Cryptorc...	OMIM:164745
Trisomy 13	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:3378
Autosomal Dominant Popliteal Pterygium Syndrome	Bifid scrotum, Thin upper lip vermilion, Small scrotum, Lip pit, Micrognathia, Cryptorchidism, No...	ORPHA:1300
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:2470
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Telecanthus, Crowded maxillary incisors, Hypoplasia of the maxilla, Blepha...	ORPHA:397973
Hydrolethalus	Microphthalmia, Anophthalmia, Anencephaly	ORPHA:2189
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:609441
Genitopalatocardiac Syndrome	Hypospadias, Micrognathia, Cleft upper lip, Cleft palate, Gonadal dysgenesis, male	OMIM:231060
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
46,Xx Gonadal Dysgenesis	Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease...	ORPHA:243
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Micrognathia, Abnormal eyelid morphology, High, narrow palate, Supernumerary to...	ORPHA:1787
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Streak ovary, ...	ORPHA:2232
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Intrauterine growth retardation	OMIM:616171
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner...	ORPHA:1507
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Trisomy 8Q	Hypoplasia of penis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Cleft ...	ORPHA:1752
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Tooth agenesis, High palate, Hypogonadotropic hypogonadism, Cleft palate	ORPHA:1135
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Female infertility, Goiter	OMIM:617577
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal eyebrow morphology, Diabetes mellitus, Abnormal nasolacrimal system morphology, Abnormal...	ORPHA:3220
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Thick eyebrow, Micrognathia, Diastema, Cryptorch...	OMIM:300534
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Congenital Disorder Of Glycosylation, Type 2V	Thin upper lip vermilion, Epicanthus, Cleft palate, Hydrocele testis, Narrow palpebral fissure, T...	OMIM:619493
Genitopalatocardiac Syndrome	Hypospadias, Micrognathia, Cryptorchidism, Male pseudohermaphroditism, Non-midline cleft lip, Cle...	ORPHA:2075
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra...	OMIM:301078
Spermatogenic Failure 14	Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen...	OMIM:615842
Cohen Syndrome	Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Micrognathia, Crypto...	ORPHA:193
Cat-Eye Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:195
Acrootoocular Syndrome	Delayed eruption of teeth, Epicanthus, Decreased response to growth hormone stimulation test, Gra...	ORPHA:2980
Prolactinoma	Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ...	ORPHA:2965
Maternal Uniparental Disomy Of Chromosome 6	Miscarriage, Cleft upper lip, Cleft palate, Hydrocele testis, Increased serum testosterone level,...	ORPHA:96181
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame...	OMIM:235200
Congenital Generalized Lipodystrophy	Mandibular prognathia, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in...	ORPHA:528
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Hypospadias, Micrognathia, Blepharophimosis, Cryptorchidism, Cleft pala...	OMIM:603736
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Elevated circulating luteinizing hormone level, Hypoplasia of the maxilla,...	ORPHA:3044
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, A...	OMIM:268305
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Highly arched eyebrow, Micrognathia, Cryptorchi...	ORPHA:404440
Bartsocas-Papas Syndrome	Median cleft lip, Micrognathia, Cleft palate, Ankyloblepharon, Sparse or absent eyelashes, Hypopl...	ORPHA:1234
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Irritability, Neutropenia	OMIM:275350
Orofaciodigital Syndrome I	Microretrognathia, Epicanthus, Median cleft lip, Telecanthus, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu...	ORPHA:347
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Hypoplasia of the...	ORPHA:228396
Cofs Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1466
Lymphatic Malformation 10	Hydrocele testis	OMIM:619369
Acrodysostosis 1 With Or Without Hormone Resistance	Delayed eruption of teeth, Mandibular prognathia, Epicanthus, Hypoplasia of the maxilla, Cryptorc...	OMIM:101800
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te...	ORPHA:98754
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:739
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Blepharophimosis, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced...	ORPHA:2728
Premature Ovarian Failure 11	Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea	OMIM:616946
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
Limb-Mammary Syndrome	Absent lacrimal punctum, Absent nipple, Chronic irritative conjunctivitis, Cleft hard palate, Cle...	ORPHA:69085
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of...	OMIM:616367
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Mitochondrial Complex I Deficiency, Nuclear Type 33	Irritability, Dysphagia, Neutropenia	OMIM:618253
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Deep philtrum...	OMIM:309520
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te...	ORPHA:177901
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Nager Syndrome	Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Lower eye...	ORPHA:245
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Ventral shortening of foreski...	ORPHA:95706
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth	OMIM:246560
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, Rectal atresia, Neona...	OMIM:613390
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Hypotelorism, Proptosis, Chor...	OMIM:157170
Van Maldergem Syndrome 2	Bifid scrotum, Irregular dentition, Epicanthus, Tented upper lip vermilion, Hypospadias, Microgna...	OMIM:615546
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te...	ORPHA:98793
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Lacrimal duct atresia, Narrow mouth, Blepharophimosis, Downslanted pal...	ORPHA:1529
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Cleft lip...	OMIM:603457
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Micrognathia	OMIM:266810
Ovarian Dysgenesis 8	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec...	OMIM:618187
Maxillonasal Dysplasia	Mandibular prognathia, Open bite, Hypoplasia of the maxilla, Cleft palate, Tooth agenesis, Microd...	ORPHA:1248
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ...	OMIM:158330
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te...	ORPHA:177904
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy, Oral leukoplakia	OMIM:618165
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Acute Promyelocytic Leukemia	Pancytopenia, Anorexia, Leukocytosis, Anemia, Leukopenia, Addictive alcohol use, Neutropenia, Thr...	ORPHA:520
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys...	ORPHA:79085
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
20P12.3 Microdeletion Syndrome	Epicanthus, Hypoplasia of the maxilla, Narrow mouth, Malar flattening, Downslanted palpebral fiss...	ORPHA:261295
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Irritability, Neutropenia, Thro...	ORPHA:292
Microphthalmia, Syndromic 9	Micrognathia, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus, Neonatal death, Blepha...	OMIM:601186
Hidrotic Ectodermal Dysplasia, Halal Type	Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation, Retrognathia	ORPHA:1809
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:601859
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Hypoplasia of the maxilla, Sparse eyebr...	OMIM:167730
Luscan-Lumish Syndrome	Mandibular prognathia, Irregular menstruation, Polycystic ovaries, Malar flattening, Downslanted ...	OMIM:616831
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Tyshchenko Syndrome	Supernumerary nipple, Cryptorchidism, High, narrow palate, Narrow palate, Cleft palate, High pala...	OMIM:615102
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Hallermann-Streiff Syndrome	Natal tooth, Telecanthus, Sparse eyelashes, Abnormality of the dentition, Micrognathia, Cryptorch...	ORPHA:2108
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Epicanthus, Telecanthus, Dental crowding, Sparse eyelashes, Micrognath...	OMIM:257850
Cohen Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Hypoplasia of the maxilla, H...	OMIM:216550
Hypomandibular Faciocranial Dysostosis	Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Maxillozygomatic hypoplasia, Up...	ORPHA:1790
Meier-Gorlin Syndrome 4	Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Thick lower lip vermilion, Narrow mouth,...	OMIM:613804
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Gingival overgrowth, Gingivitis, Periodontitis, Abnormal fallopian tu...	ORPHA:722
Pituitary Stalk Interruption Syndrome	Death in infancy, Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorch...	ORPHA:95496
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Pituitary Gigantism	Mandibular prognathia, Elevated circulating growth hormone concentration, Amenorrhea, Increased c...	ORPHA:99725
Hallermann-Streiff Syndrome	Natal tooth, Sparse eyelashes, Selective tooth agenesis, Micrognathia, Sparse eyebrow, Cryptorchi...	OMIM:234100
Hartsfield Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:2117
Bartsocas-Papas Syndrome 1	Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Cicatricial lagophthalmos, Ank...	OMIM:263650
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Narrow palpebral fissure, Synophrys, Broad eyebrow	OMIM:618302
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Cyclopia, Iris coloboma, Hypotelorism	ORPHA:3186
Verloove Vanhorick-Brubakk Syndrome	Micrognathia, Cryptorchidism, Abnormality of the parathyroid gland, Non-midline cleft lip, Cleft ...	ORPHA:3429
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr...	ORPHA:91354
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Epicanthus, Abnormality of the philtrum, Non-midline cleft lip, Cleft palate, Polycystic ovaries,...	ORPHA:1770
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Compulsive behaviors, Reduction of neutrophil motility	OMIM:266265
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Epicanthus, Abnormal dental enamel morphology, Supernumerary nipple, Abnorma...	ORPHA:1812
1Q41Q42 Microdeletion Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Upslan...	ORPHA:250999
Frontonasal Dysplasia 1	Epicanthus, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Widely-spac...	OMIM:136760
Seckel Syndrome 1	Hypospadias, Selective tooth agenesis, Dental crowding, Micrognathia, Cryptorchidism, Dental malo...	OMIM:210600
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia	OMIM:619752
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Intestinal malrotation	OMIM:601163
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Hypospadias, Dysmenorrhea, Micrognathia, Cryptorchidism, Cleft palate, Abnormality...	ORPHA:397590
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Conjunctivitis, S...	OMIM:123500
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Small scrotum, Multiple pterygia, Micrognathia, Abnormal eyelid morphology, ...	ORPHA:2990
Arthrogryposis, Distal, Type 3	Epicanthus, Micrognathia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, High palate,...	OMIM:114300
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol...	OMIM:604367
Johnson Neuroectodermal Syndrome	Absent eyebrow, Carious teeth, Absent eyelashes, Cleft palate, Everted lower lip vermilion, Hypog...	ORPHA:2316
Premature Ovarian Failure 2A	Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ...	OMIM:300511
Joubert Syndrome 22	Microphthalmia, Intrauterine growth retardation	OMIM:615665
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Micro...	OMIM:616331
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, A...	ORPHA:1772
Autosomal Recessive Spastic Paraplegia Type 77	Bilateral cryptorchidism, Macrodontia of permanent maxillary central incisor, Retrognathia, Ptosis	ORPHA:466722
Frasier Syndrome	Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma	OMIM:136680
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cryptorchidism, Clef...	OMIM:615849
Cockayne Syndrome Type 2	Intrauterine growth retardation, Anophthalmia	ORPHA:90322
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:129900
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Micrognathia, Sparse eyebrow, Hydrocele testis, Narrow mouth, Neonatal death, Micropenis	OMIM:618810
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:604292
Martsolf Syndrome 1	Epicanthus, Hypogonadotropic hypogonadism, Micrognathia, Hypoplasia of the maxilla, Cryptorchidis...	OMIM:212720
Branchioskeletogenital Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed anus, Downturned c...	ORPHA:1299
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati...	ORPHA:562
Postaxial Acrofacial Dysostosis	Supernumerary nipple, Cleft upper lip, Conical tooth, Cryptorchidism, Pyloric stenosis, Midgut ma...	OMIM:263750
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Submucous cleft hard palate, Thick vermi...	OMIM:613805
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Epispa...	ORPHA:2554
Carpenter Syndrome 1	Epicanthus, Telecanthus, External genital hypoplasia, Persistence of primary teeth, Precocious pu...	OMIM:201000
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Highly arched eyebrow, Micrognathia, Lagophthalmos, Cleft palate, Furrowed tongue...	OMIM:615065
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Cryptorchidism, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border...	OMIM:612938
Lig4 Syndrome	Epicanthus, Cryptorchidism, Upslanted palpebral fissure, Chronic sinusitis, Type II diabetes mell...	OMIM:606593
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Bardet-Biedl Syndrome 1	Diabetes mellitus, Dental crowding, Aganglionic megacolon, Nephrogenic diabetes insipidus, High, ...	OMIM:209900
Multiple Benign Circumferential Skin Creases On Limbs	Epicanthus, Small scrotum, Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, Abnormality o...	ORPHA:2505
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Epicanthus, Thyroid lymphangiectasia, Cryptorchidism, Rectal prolapse,...	OMIM:235510
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Microphthalmia, Syndromic 1	Hypospadias, Dental crowding, Aganglionic megacolon, Cleft upper lip, Cryptorchidism, Rectal prol...	OMIM:309800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat...	ORPHA:95699
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
Temtamy Preaxial Brachydactyly Syndrome	Highly arched eyebrow, Diastema, Deep philtrum, Talon cusp, Synophrys, Cleft palate, Microdontia	OMIM:605282
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:48431
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Congenital Toxoplasmosis	Microphthalmia, Intrauterine growth retardation	ORPHA:858
Gapo Syndrome	Delayed eruption of teeth, Mandibular prognathia, Sparse eyelashes, Dysmenorrhea, Palpebral edema...	ORPHA:2067
Propionic Acidemia	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:606054
Mandibulofacial Dysostosis-Microcephaly Syndrome	Epicanthus, Telecanthus, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft ...	ORPHA:79113
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
3Mc Syndrome 2	Prominence of the premaxilla, Hypospadias, Highly arched eyebrow, Cleft upper lip, Cryptorchidism...	OMIM:265050
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Acrofrontofacionasal Dysostosis	Bifid scrotum, Hypospadias, Non-midline cleft lip, Cleft palate, Eyelid coloboma, High palate, Ev...	ORPHA:1784
Boucher-Neuhauser Syndrome	Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism	OMIM:215470
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Clitoral hypertrophy, Highly arched eyebrow, Sparse ...	OMIM:619124
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys...	ORPHA:435651
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Malar flattening, Optic disc coloboma, Micrognathia	OMIM:241310
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Holoprosencephaly 13, X-Linked	Cyclopia, Micrognathia	OMIM:301043
Macrophage Activation Syndrome	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc...	ORPHA:158061
Moebius Syndrome	Death in infancy, Epicanthus, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the tongue, Mi...	ORPHA:570
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Highly arched eyebrow, Micrognathia, Hypoplasia of the maxilla, Upslanted ...	OMIM:620157
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum	OMIM:156510
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Oral leukoplakia	OMIM:613987
Trichorhinophalangeal Syndrome Type 2	Thin upper lip vermilion, Thick eyebrow, Abnormality of the dentition, Supernumerary tooth, Deep ...	ORPHA:502
Keipert Syndrome	Epicanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Hypoplasia of the maxilla, Ptosis	ORPHA:2662
3Mc Syndrome 3	Bifid scrotum, Highly arched eyebrow, Cleft upper lip, Cryptorchidism, Epicanthus inversus, Cleft...	OMIM:248340
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Exaggerated cupid's bow, Micrognathia, Cryptorchidism, Cleft palate, Downturned corne...	OMIM:614230
Lead Poisoning	Delayed eruption of teeth, Decreased female libido, Miscarriage, Abnormality of the menstrual cyc...	ORPHA:330015
Van Maldergem Syndrome 1	Irregular dentition, Epicanthus, Tented upper lip vermilion, Hypospadias, Micrognathia, Hypoplasi...	OMIM:601390
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility	OMIM:619518
Orofaciodigital Syndrome V	Unilateral ptosis, Thin upper lip vermilion, Median cleft lip, Unilateral cryptorchidism, Agangli...	OMIM:174300
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Intellectual Disability And Myopathy Syndrome	Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ...	OMIM:619719
Treacher Collins Syndrome 1	Sparse lower eyelashes, Cleft soft palate, Lacrimal duct stenosis, Micrognathia, Cryptorchidism, ...	OMIM:154500
Dyskeratosis Congenita	Neoplasm of the pancreas, Abnormal eyebrow morphology, Esophageal stenosis, Diabetes mellitus, Ab...	ORPHA:1775
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Hypospadias, Abnormal oral mucosa morphology, Abnormality of the denti...	ORPHA:289
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micrognathia, Cryptorchidism, Narrow mouth, Neonatal death, Malar flattening, Pterygium	OMIM:224410
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor	OMIM:302350
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Proptosis, Hypertelorism	ORPHA:1540
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys...	ORPHA:435660
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Cleft palate, Hypoplasia of the uterus, Anteriorly placed anus, Chordee, ...	OMIM:309801
Meier-Gorlin Syndrome 3	Microretrognathia, Small scrotum, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Cryptorch...	OMIM:613803
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Unilateral ptosis, Dental crowding, Hypospadias, Sparse eyebrow, Cryptorch...	ORPHA:3063
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Anteriorl...	OMIM:201750
Congenital Factor Vii Deficiency	Ovarian cyst, Menorrhagia, Gingival bleeding	ORPHA:327
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Supernumerary tooth, Abnormality of the dentition	ORPHA:1264
Meier-Gorlin Syndrome 1	Death in infancy, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Hypoplastic labia mino...	OMIM:224690
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Abnormality of the dentition, Micrognathia, Sparse eyebrow, Supernumerary tooth...	ORPHA:77258
Immunodeficiency, Common Variable, 1	Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Distal Deletion 19P	Vaginal hernia, Hypoplasia of the maxilla, Cleft palate, Short philtrum, Thick eyebrow	ORPHA:96129
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Thrombocytopenia, Anemia, Neutropenia	ORPHA:47
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Barth Syndrome	Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia	OMIM:302060
Cerebellofaciodental Syndrome	Sparse eyebrow, Cryptorchidism, Dental malocclusion, Taurodontia, Macrodontia of permanent maxill...	OMIM:616202
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Trichorhinophalangeal Syndrome, Type Iii	Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Smooth philtrum, S...	OMIM:190351
Familial Afibrinogenemia	Menometrorrhagia, Miscarriage, Gingival bleeding	ORPHA:98880
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Schwartz-Jampel Syndrome	Pursed lips, Ptosis, Abnormal eyebrow morphology, Death in infancy, Long eyelashes in irregular r...	ORPHA:800
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom...	OMIM:200990
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Malabsorpti...	OMIM:600955
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Death in infancy, Thyroid lymphangiectasia, Micrognathia, Cryptorchidis...	OMIM:235255
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel...	ORPHA:69087
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni...	OMIM:214500
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Diamond-Blackfan Anemia 11	Anemia of inadequate production, Neutropenia	OMIM:614900
Wolfram Syndrome 1	Ptosis, Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Testicular atrophy	OMIM:222300
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Abnormality of the dentition, Abnormality of canine, Micrognathia, Hypo...	ORPHA:363417
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Epicanthus, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology...	ORPHA:2916
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Apert Syndrome	Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Esophageal atresia, ...	ORPHA:87
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Hyperthyroidism, Dental crowding, Persistence of primary teeth, Microgn...	OMIM:170390
Trisomy 1Q	Anophthalmia	ORPHA:261344
Distal Deletion 3P	Epicanthus, Telecanthus, Micrognathia, Cryptorchidism, Cleft palate, Downturned corners of mouth,...	ORPHA:1620
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Telecanthus, Abnormality of pri...	ORPHA:438216
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:603194
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hypotelorism, Neural tube defect, Cyclopia...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Hypotelorism, Neural tube defect, Cyclopia...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hypotelorism, Neural tube defect, Cyclopia...	ORPHA:93924
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hypotelorism, Neural tube defect, Cyclopia...	ORPHA:220386
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia	ORPHA:2169
Saethre-Chotzen Syndrome	Epicanthus, Open bite, Cryptorchidism, Hypoplasia of the maxilla, Cleft palate, Narrow palate, Bl...	ORPHA:794
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Malar flattening, Proptosis, Hypertelorism	ORPHA:93262
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Interstitial Cystitis	Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ...	ORPHA:37202
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti...	ORPHA:465508
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Proptosis, Micrognathia	OMIM:166300
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Thick eyebrow, Hypospadias, Septate vagina, Persistence of primary tee...	OMIM:300166
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Telecanthus, Hamartoma of tongue, Micrognathia, Epispadias, Crypt...	OMIM:615948
Distal Deletion 12Q	Telecanthus, Median cleft lip, Unilateral cryptorchidism, Diabetes mellitus, Maturity-onset diabe...	ORPHA:96149
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Felty Syndrome	Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia	ORPHA:47612
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Micrognathia, Advanced eruption of teeth, Hypospadias, Abnormal dental ename...	ORPHA:818
Cerebellar-Facial-Dental Syndrome	Micrognathia, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Alveolar ridge overgrowth, Tau...	ORPHA:444072
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Spina bifida, Intrauterine growth retardation	ORPHA:3412
Cleidocranial Dysplasia	Delayed eruption of teeth, Mandibular prognathia, Sinusitis, Abnormal dental enamel morphology, A...	ORPHA:1452
Robinow Syndrome, Autosomal Dominant 3	Epicanthus, Telecanthus, Micrognathia, Cryptorchidism, Cleft lip, Dental malocclusion, Gingival o...	OMIM:616894
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	OMIM:176270
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Gray Platelet Syndrome	Abnormality of the menstrual cycle	ORPHA:721
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Holoprosencephaly 14	Cyclopia	OMIM:619895
Autosomal Agammaglobulinemia	Neutropenia	ORPHA:33110
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Orofaciodigital Syndrome Type 14	Microretrognathia, Telecanthus, Accessory oral frenulum, Hamartoma of tongue, Bilateral cryptorch...	ORPHA:434179
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Proptosis	ORPHA:90653
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Epicanthus, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abn...	ORPHA:2673
Pierpont Syndrome	Microphthalmia	OMIM:602342
Opitz Gbbb Syndrome	Thin upper lip vermilion, Telecanthus, Hypospadias, Cleft upper lip, Rectourethral fistula, Crypt...	OMIM:300000
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Pparg-Related Familial Partial Lipodystrophy	Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Insulin-resistant diabetes mellitus, Primary ...	ORPHA:79083
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Neutropenia	OMIM:616395
Carney Complex	Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, O...	ORPHA:1359
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Abnormal size of the palpebral fissures, Hypoplasia of the maxilla, Crypto...	ORPHA:1101
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower lip vermilion, Up...	ORPHA:293939
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Epicanthus, Death in early adulthood, Abnor...	ORPHA:192
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Gardner Syndrome	Neoplasm of the pancreas, Duodenal polyposis, Abnormality of the dentition, Adrenocortical carcin...	ORPHA:79665
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Treacher Collins Syndrome 3	Micrognathia, Lower eyelid coloboma, Cleft palate, Hypoplasia of the zygomatic bone, Malar flatte...	OMIM:248390
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation	ORPHA:290
Holoprosencephaly 1	Micropenis, Cyclopia, Hypotelorism	OMIM:236100
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Selective tooth a...	ORPHA:2909
Shprintzen-Goldberg Craniosynostosis Syndrome	Telecanthus, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Dental malocclusion, Narrow...	OMIM:182212
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, Cl...	ORPHA:2250
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Cryptorchidism, Cleft lip, Cleft palate, Upslanted palpebral fissure	OMIM:619123
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Downturned corners of mouth, High palate, Intercrural pterygium, Pterygium, Hypospa...	OMIM:265000
Microphthalmia With Limb Anomalies	Abnormal eyebrow morphology, Death in infancy, Macrodontia, Hypoplasia of the premaxilla, Cleft u...	ORPHA:1106
Primary Ciliary Dyskinesia	Male infertility, Abnormal sperm motility, Intestinal malrotation, Female infertility, Chronic si...	ORPHA:244
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Epicanthus, Highly arched eyebrow, Micrognathia, Sparse eyebrow, Cryptorch...	OMIM:614527
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Intrauterine growth retardation	OMIM:610756
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, ...	OMIM:618021
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Native American Myopathy	Micrognathia, Cryptorchidism, Bilateral ptosis, Cleft palate, Downturned corners of mouth, High p...	ORPHA:168572
Nance-Horan Syndrome	Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, High palate	OMIM:300676
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Persisten...	OMIM:617052
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Epicanthus, Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Hydrometrocolpos, Apl...	OMIM:617088
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Pycnodysostosis	Obtuse angle of mandible, Decreased serum insulin-like growth factor 1, Decreased response to gro...	ORPHA:763
Congenital Myopathy 13	Telecanthus, Micrognathia, Cryptorchidism, Cleft palate, Downturned corners of mouth, High palate...	OMIM:255995
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia	OMIM:242900
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	ORPHA:540
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Turner Syndrome Due To Structural X Chromosome Anomalies	Micrognathia, High, narrow palate, Inflammation of the large intestine, High palate, Hashimoto th...	ORPHA:99413
Mosaic Monosomy X	Micrognathia, High, narrow palate, Inflammation of the large intestine, High palate, Hashimoto th...	ORPHA:99228
Monosomy X	Micrognathia, High, narrow palate, Inflammation of the large intestine, High palate, Hashimoto th...	ORPHA:99226
Turner Syndrome	Micrognathia, High, narrow palate, Inflammation of the large intestine, High palate, Hashimoto th...	ORPHA:881
Ring Chromosome 10 Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1438
Crouzon Syndrome	Hypoplasia of the maxilla, Proptosis, Iris coloboma, Hypertelorism	ORPHA:207
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc...	OMIM:102200
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Deeply set eye	OMIM:608154
Marshall Syndrome	Sparse eyelashes, Abnormality of the dentition, Micrognathia, Hypoplasia of the maxilla, Sparse e...	ORPHA:560
Necrotizing Enterocolitis	Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Osteoglophonic Dysplasia	Delayed eruption of teeth, Mandibular prognathia, Telecanthus, Hypospadias, Hypoplasia of the max...	OMIM:166250
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening, Proptosis, Hypertelorism	OMIM:109120
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Velocardiofacial Syndrome	Hypoparathyroidism, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, Pi...	OMIM:192430
Acrofacial Dysostosis, Cincinnati Type	Ablepharon, Micrognathia, Hypoplasia of the maxilla, Upper eyelid coloboma, Cleft palate, Lower e...	OMIM:616462
Frontorhiny	Epicanthus, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Hypopituitarism...	ORPHA:391474
Meckel Syndrome, Type 4	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:611134
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia, Sparse lateral eyebrow	OMIM:614564
3-Methylglutaconic Aciduria Type 7	Infection associated neutropenia, Neutropenia	ORPHA:445038
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Glucocorticoid Resistance, Generalized	Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I...	OMIM:615962
Immunodeficiency 23	Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia	OMIM:615816
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c...	ORPHA:1830
Cerebrofacioarticular Syndrome	Irregular dentition, Anal stenosis, Epicanthus, Hypospadias, Micrognathia, Hypoplasia of the maxi...	ORPHA:314679
Pontocerebellar Hypoplasia Type 7	Epicanthus, Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Upslanted palpebral fissure,...	ORPHA:284339
Opitz Gbbb Syndrome	Bifid scrotum, Micrognathia, High palate, Enlarged ovaries, Hypospadias, Cryptorchidism, Cleft li...	ORPHA:2745
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary incisor, Blepharitis	OMIM:602400
Denys-Drash Syndrome	Epicanthus, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genit...	OMIM:194080
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor...	ORPHA:90301
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Hamartoma of tongue, Sparse eyebrow, Cryptorchidism, Cleft lip, H...	OMIM:616300
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ...	OMIM:146255
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Epicanthus, Decreased response to growth hormone stimulation test, Supernumerary nipple, Cleft up...	OMIM:213980
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia	ORPHA:508542
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Ablepharon Macrostomia Syndrome	Absent eyebrow, Hypoplasia of penis, Ablepharon, Microdontia, Hypoplasia of the maxilla, Absent e...	ORPHA:920
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Cdags Syndrome	Ectropion, Hypospadias, Sparse eyelashes, Rectourethral fistula, Sparse eyebrow, Cleft palate, Re...	OMIM:603116
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Ctcf-Related Neurodevelopmental Disorder	Thin upper lip vermilion, Epicanthus, Highly arched eyebrow, Phimosis, Abnormality of the dentiti...	ORPHA:363611
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation	ORPHA:85284
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Rectal prolapse, Multiple gastric polyps, Oral melanotic macule, Hamart...	OMIM:175200
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:277380
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Shprintzen-Goldberg Syndrome	Telecanthus, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, High, narrow palate, Retrog...	ORPHA:2462
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Seckel Syndrome 2	Microphthalmia	OMIM:606744
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:93945
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Intrauterine growth retardation	OMIM:300863
Rubinstein-Taybi Syndrome 1	Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, High, narrow palate...	OMIM:180849
Duplication Of The Pituitary Gland	Supernumerary tooth, Abnormal pituitary gland morphology, Abnormality of the tongue, Cleft palate...	ORPHA:314621
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Skin Creases, Congenital Symmetric Circumferential, 2	Thin upper lip vermilion, Epicanthus, Small scrotum, Hypospadias, Micrognathia, Carious teeth, Cr...	OMIM:616734
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Broad eyebrow, Hypoplasia of the maxilla, Upslanted palpebral fissure, Thin vermilion border, Hig...	ORPHA:481152
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X...	ORPHA:238468
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:617303
Pediatric-Onset Graves Disease	Hyperactivity, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Irritability, ...	ORPHA:525731
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
H Syndrome	Abnormal eyebrow morphology, Diabetes mellitus, Cleft upper lip, Malabsorption, Gingival overgrow...	ORPHA:168569
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Renal Agenesis, Bilateral	Epicanthus, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Abnormal intestine mo...	ORPHA:1848
Peters Plus Syndrome	Intestinal fistula, Thin upper lip vermilion, Hypospadias, Exaggerated cupid's bow, Cleft upper l...	ORPHA:709
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg...	OMIM:608233
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251100
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, High palate, Ptosis	OMIM:218000
Fanconi Anemia, Complementation Group I	Neutropenia	OMIM:609053
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Absent lacrimal punctum, Sparse eyelashes, Abnormal dental enamel morp...	ORPHA:1071
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B...	OMIM:137920
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ectopic anus,...	ORPHA:83628
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te...	ORPHA:37553
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Fibular Hemimelia	Anophthalmia, Spina bifida	ORPHA:93323
Cockayne Syndrome Type 1	Anophthalmia	ORPHA:90321
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Anorexia, Thrombocytopenia, Reticulocytopenia, Neutropenia, H...	OMIM:557000
Poikiloderma With Neutropenia	Splenomegaly, Leukopenia, Neutropenia	OMIM:604173
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Neutropenia	ORPHA:1667
Leopard Syndrome 1	Mandibular prognathia, Epicanthus, Hypospadias, Delayed menarche, Cryptorchidism, Cleft palate, H...	OMIM:151100
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Cerebrooculonasal Syndrome	Epicanthus, Sparse eyelashes, Sparse eyebrow, Narrow palate, Cleft palate, Downturned corners of ...	OMIM:605627
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia	OMIM:308230
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Carious teeth, Hypoplasia of the maxilla, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Dysphagia, Neutropenia	OMIM:615471
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypospadias, Decreased response to growth hormone stimulation test, Premature thelarche, Cleft so...	ORPHA:268261
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian cyst, Uterine ...	OMIM:617100
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Rectal abscess, Neutropenia	OMIM:601495
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Short philtrum	OMIM:619142
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Everted upper lip vermilion, Absent nipple, Sparse eyelashes, Abnormal oral mucos...	OMIM:305100
Marshall Syndrome	Epicanthus, Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pi...	OMIM:154780
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Bare Lymphocyte Syndrome, Type Ii	Neutropenia	OMIM:209920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Neutropenia, Microcytic anemia	OMIM:251900
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Hartsfield Syndrome	Epicanthus, Median cleft lip, Hypospadias, Cleft upper lip, Cryptorchidism, Gonadotropin deficien...	OMIM:615465
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Hypoplasia of the maxilla, Sparse eyebrow, Abnormal eyelash morp...	ORPHA:2399
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:228390
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia	OMIM:617050
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, O...	ORPHA:2753
Goldberg-Shprintzen Syndrome	Telecanthus, Aganglionic megacolon, Highly arched eyebrow, Hypoplasia of the maxilla, Synophrys, ...	OMIM:609460
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt...	ORPHA:167
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Cleft palate, Ptosis	OMIM:614261
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Entropion, Dental crowding, Bilateral cryptorchidism, Pyloric stenosis, Hy...	OMIM:617402
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Methylmalonic Acidemia With Homocystinuria Type Cblf	Neutropenia, Megaloblastic anemia	ORPHA:79284
Sepsis In Premature Infants	Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia	ORPHA:90051
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Hypertelorism	OMIM:122880
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Supernumerary tooth, Synophrys, Widely spaced teeth, Hypodontia, Mic...	ORPHA:90024
Pfeiffer Syndrome	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Shallow orbits, D...	OMIM:101600
Rodrigues Blindness	Microphthalmia	OMIM:268320
Chime Syndrome	Epicanthus, Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Cleft ...	ORPHA:3474
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Intrauterine growth retardation	ORPHA:163966
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227645
Adenohypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95512
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Intellectual Developmental Disorder, Autosomal Dominant 54	Irritability, Bruxism, Aggressive behavior, Neutropenia	OMIM:617799
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Cleft palate, Ect...	ORPHA:2473
Sandestig-Stefanova Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:618804
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Faundes-Banka Syndrome	Thin upper lip vermilion, Epicanthus, Premature thelarche, Micrognathia, Cryptorchidism, Cleft pa...	OMIM:619376
Panhypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95513
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Ring Chromosome 7 Syndrome	Mandibular prognathia, Unilateral ptosis, Epicanthus, Hypospadias, Highly arched eyebrow, Bilater...	ORPHA:1449
Dysostosis, Stanescu Type	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Hypoplasia of the...	ORPHA:1798
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit...	ORPHA:100924
Atelosteogenesis, Type Iii	Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia	OMIM:108721
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Arboleda-Tham Syndrome	Microretrognathia, Thin upper lip vermilion, Mandibular prognathia, Epicanthus, Lacrimal duct ste...	OMIM:616268
Familial Adenomatous Polyposis	Duodenal polyposis, Multiple gastric polyps, Eruption failure, Papillary thyroid carcinoma, Adeno...	ORPHA:733
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Cleft upper lip, Cryptorchidism, Cleft palate, Death in childhood, Shawl scrotum, Mi...	OMIM:600460
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia	OMIM:615636
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Phocomelia, Schinzel Type	Hypoplasia of penis, Micrognathia, Cryptorchidism, High, narrow palate, Tracheoesophageal fistula...	ORPHA:2879
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Meckel Syndrome	Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:564
Lacrimoauriculodentodigital Syndrome 1	Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Delayed...	OMIM:149730
Gorlin-Chaudhry-Moss Syndrome	Abnormal eyelid morphology, Hypoplasia of the maxilla, Abnormality of the dentition, Upper eyelid...	ORPHA:2095
Toxic Epidermal Necrolysis	Neutropenia, Anemia, Dysphagia, Polydipsia, Thrombocytopenia	ORPHA:537
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Hepatosplenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibo...	OMIM:615952
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o...	ORPHA:37042
Kagami-Ogata Syndrome	Micrognathia, Hypoplasia of the maxilla, Long philtrum, Blepharophimosis, Retrognathia, Short pal...	OMIM:608149
Spondyloenchondrodysplasia With Immune Dysregulation	T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Attention deficit hyperactivity disorder, Neutropenia, L...	OMIM:227646
Myhre Syndrome	Mandibular prognathia, Thin upper lip vermilion, Hypoplasia of the maxilla, Cryptorchidism, Cleft...	OMIM:139210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Cleidocranial Dysplasia 1	Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup...	OMIM:119600
Malakoplakia	Abnormality of the menstrual cycle, Orchitis, Abnormality of the tongue, Neoplasm of the rectum, ...	ORPHA:556
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Anorexia	ORPHA:1302
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Duodenal polyposis, Adrenocortical carcinoma, Supernumerary tooth, Aden...	ORPHA:247806
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Vici Syndrome	Dysphagia, Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD4-positive helpe...	OMIM:242840
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Menke-Hennekam Syndrome 1	Thin upper lip vermilion, Everted upper lip vermilion, Epicanthus, Telecanthus, Thick eyebrow, Mi...	OMIM:618332
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Leigh Syndrome	Dysphagia, Anemia, Neutropenia	ORPHA:506
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia	ORPHA:370959
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Fusariosis	Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia	ORPHA:228119
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:494344
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Epicanthus, Micrognathia, Cryptorchidism, Cleft palate, Downturned corners...	ORPHA:85276
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Supernumerary tooth, Thin vermilion border, Thick vermilion border, Malar flattening, Downslanted...	ORPHA:86818
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Neutropenia	OMIM:618005
Hennekam Syndrome	Delayed eruption of teeth, Epicanthus, Abnormal dental morphology, Abnormal oral mucosa morpholog...	ORPHA:2136
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Hypospadias, Dental crowding, Intestinal malrotation, Micrognathia, Carious teeth, C...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Hypospadias, Dental crowding, Intestinal malrotation, Micrognathia, Carious teeth, C...	ORPHA:353277
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Khan-Khan-Katsanis Syndrome	Lymphopenia, Dysphagia, Anemia, Neutropenia	OMIM:618460
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Fetal Alcohol Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1915
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Short lingual frenulum, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morpholo...	ORPHA:1521
7Q31 Microdeletion Syndrome	Epicanthus, Telecanthus, Hypoplasia of the maxilla, Wide mouth, Long philtrum, Short palpebral fi...	ORPHA:251061
Monosomy 18P	Microphthalmia	ORPHA:1598
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Epicanthus, Micrognathia, Synophrys, Hypoplastic sweat glands, Dental malocclusion, Localized hyp...	ORPHA:73223
Temtamy Syndrome	Microphthalmia	OMIM:218340
Familial Adenomatous Polyposis 1	Duodenal polyposis, Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Adenomatous col...	OMIM:175100
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Doors Syndrome	Thin upper lip vermilion, Epicanthus, Adrenal hyperplasia, Short lingual frenulum, Abnormality of...	ORPHA:79500
Somatomammotropinoma	Mandibular prognathia, Broad jaw, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea,...	ORPHA:314769
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia, Addictive alcohol use	ORPHA:1930
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Hypospadias, Dental crowding, Intestinal malrotation, Carious teeth, Cryptorchidism,...	ORPHA:353281
Steinert Myotonic Dystrophy	Endometrial carcinoma, Tented upper lip vermilion, Hypergonadotropic hypogonadism, Decreased resp...	ORPHA:273
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Geroderma Osteodysplasticum	Mandibular prognathia, Hypertelorism, Hypoplasia of the maxilla, Deeply set eye, Malar flattening	OMIM:231070
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1352
Moebius Syndrome	Microphthalmia	OMIM:157900
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	ORPHA:436159
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi...	OMIM:105830
Agammaglobulinemia, X-Linked	T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia	OMIM:300755
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Aggressive behavior, Compulsive behaviors, Neutropenia	ORPHA:163956
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Attention deficit hyperactivity disorder, Neutropenia, Leukemia, Anemia	ORPHA:221008
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Cleft palate, Parathyroi...	ORPHA:2237
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Micrognathia, Conical tooth, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Whim Syndrome	Lymphopenia, Abnormal neutrophil morphology, Neutropenia	ORPHA:51636
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Anemia	ORPHA:54251
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Hypospadias, Decreased response to growth hormone stimul...	OMIM:180500
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Fanconi Anemia, Complementation Group L	Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Upslanted palpebral fi...	OMIM:614083
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Hermansky-Pudlak Syndrome	Anorexia, Neutropenia	ORPHA:79430
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Epicanthus, Sparse eyelashes, Hypoplasia of the maxilla, Sparse eyebrow, Cleft palate, Eyelid col...	ORPHA:306542
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia	ORPHA:33364
Odontoonychodermal Dysplasia	Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widel...	OMIM:257980
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Joubert Syndrome 14	Encephalocele, Microphthalmia, Meningocele	OMIM:614424
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Marden-Walker Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:248700
Neu-Laxova Syndrome 1	Ablepharon, Swollen lip, Cleft upper lip, Cryptorchidism, Bifid uterus, Thick lower lip vermilion...	OMIM:256520
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia, Addictive alcohol use	ORPHA:36238
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Elevated cir...	OMIM:601812
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the ...	ORPHA:454840
Van Den Ende-Gupta Syndrome	Abnormal eyebrow morphology, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narr...	OMIM:600920
Glycogen Storage Disease Ib	Splenomegaly, Neutropenia	OMIM:232220
Primrose Syndrome	Epicanthus, Diabetes mellitus, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Cryptorc...	OMIM:259050
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Oeis Complex	Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Ve...	OMIM:258040
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Syno...	OMIM:610828
Zttk Syndrome	Absent gallbladder, Epicanthus, Abnormality of the dentition, Hypoplasia of the maxilla, Sparse e...	OMIM:617140
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
Charge Syndrome	Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:138
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Umbilical hernia, Bilateral microphthalmos	ORPHA:369891
Kikuchi-Fujimoto Disease	Anorexia, Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia	ORPHA:50918
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Tooth Agenesis, Selective, 4	Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Short ...	OMIM:150400
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos	OMIM:610758
Refsum Disease	Microphthalmia	ORPHA:773
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Neutropenia, Thrombocytopenia, Megaloblastic anemia	ORPHA:79282
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Pearson Syndrome	Reticulocytosis, Pancytopenia, Splenomegaly, Dysphagia, Anemia, Neutropenia, Hypoplastic spleen, ...	ORPHA:699
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Cleft upper lip, Absent external genitalia, Micrognathia, Cleft...	OMIM:273395
Floating-Harbor Syndrome	Hypospadias, Persistence of primary teeth, Precocious puberty, Cryptorchidism, Celiac disease, Ca...	ORPHA:2044
Exstrophy-Epispadias Complex	Bifid scrotum, Anal stenosis, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tr...	ORPHA:322
Micro Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:2510
Hypermobile Ehlers-Danlos Syndrome	Epicanthus, Abnormality of the dentition, Malabsorption, Abnormality of the menstrual cycle, Abno...	ORPHA:285
Rothmund-Thomson Syndrome Type 2	Leukemia, Aplastic anemia, Anemia, Neutropenia	ORPHA:221016
Cartilage-Hair Hypoplasia	Anemia, Neutropenia	ORPHA:175
Branchiooculofacial Syndrome	Telecanthus, Hypospadias, Supernumerary nipple, Cleft upper lip, Malrotation of colon, Cryptorchi...	OMIM:113620
Fraser Syndrome	Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia	ORPHA:2052
Focal Dermal Hypoplasia	Anophthalmia, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina bifida occulta	OMIM:305600
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Miscarriage, External genital hypo...	ORPHA:96334
Kapur-Toriello Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:244300
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Klippel-Trénaunay Syndrome	Abnormality of the menstrual cycle	ORPHA:90308
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Microcephaly-Micromelia Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:251230
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Stickler Syndrome	Epicanthus, Telecanthus, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Micrognat...	ORPHA:828
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Neutropenia	OMIM:271510
3-Methylglutaconic Aciduria, Type Viii	Dysphagia, Neutropenia	OMIM:617248
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Sup...	OMIM:614188
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Intrauterine growth retardation	OMIM:613451
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor, Aplasia of the eccrine sweat glands	OMIM:300291
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Adams-Oliver Syndrome	Encephalocele, Microphthalmia	ORPHA:974
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Anal atresia, Bifid uterus	OMIM:617466
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microphthalmia, Anencephaly	OMIM:619148
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:2714
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome...	ORPHA:228426
8Q24.3 Microdeletion Syndrome	Microretrognathia, Thin upper lip vermilion, Ectopic posterior pituitary, Thick eyebrow, Epicanth...	ORPHA:508488
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Hypertelorism, Proptosis	OMIM:259600
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Fanconi Anemia, Complementation Group F	Microphthalmia, Intrauterine growth retardation	OMIM:603467
Hydrolethalus Syndrome 1	Median cleft lip, Hypospadias, Bifid uterus, Micrognathia, Cleft palate, Stillbirth, Adrenal glan...	OMIM:236680
Wilson Disease	Abnormality of the menstrual cycle	ORPHA:905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele	OMIM:601707
Mosaic Trisomy 9	Microphthalmia, Spina bifida, Intrauterine growth retardation	ORPHA:99776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Tooth malposition, Narrow palate, Shallow orbits	OMIM:277600
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Galloway-Mowat Syndrome 3	Microphthalmia, Intrauterine growth retardation	OMIM:617729
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Charge Syndrome	Microphthalmia, Anophthalmia, Umbilical hernia, Unilateral microphthalmos	OMIM:214800
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Zygomycosis	Brain abscess, Splenic abscess, Neutropenia	ORPHA:73263
Loeys-Dietz Syndrome	Micrognathia, Orofacial cleft, High palate, Uterine rupture, Malar flattening, Bifid uvula	ORPHA:60030
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia	ORPHA:79259
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Meckel Syndrome 14	Microphthalmia, Occipital encephalocele	OMIM:619879
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Chronic neutropenia	ORPHA:500095
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation	OMIM:251300
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia	OMIM:236670
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Pelvis-Shoulder Dysplasia	Hydranencephaly, Bilateral microphthalmos, Spina bifida	ORPHA:2839
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
1Q21.1 Microdeletion Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:250989
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Duane-Radial Ray Syndrome	Microphthalmia, Spina bifida occulta, Optic disc hypoplasia	OMIM:607323
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Glycogen Storage Disease Ic	Cyclic neutropenia	OMIM:232240
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Palpebral edema, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long philtrum	ORPHA:314647
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodontitis, Uterine rupture, Micr...	ORPHA:286
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia	OMIM:617107
Greenberg Dysplasia	Micrognathia, Hypertelorism, Large placenta, Hypoplasia of the maxilla, Stillbirth, Neonatal deat...	OMIM:215140
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida	ORPHA:2092
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Oral-pharyngeal dysphagia, Depression, Neutropenia, Anemia	ORPHA:95455
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Congenital Disorder Of Glycosylation, Type Iiw	Micrognathia, Supernumerary tooth, Bile duct proliferation, Type I diabetes mellitus, Ankyloglossia	OMIM:619525
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Narrow palate, High palate, Shallow orbits, Tooth malposition	OMIM:608328
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia, Intrauterine growth retardation	OMIM:147791
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Cousin Syndrome	Hydranencephaly, Microphthalmia	OMIM:260660
Saethre-Chotzen Syndrome	Abnormal nasolacrimal system morphology, Hypoplasia of the maxilla, Cleft of chin, Cleft palate, ...	OMIM:101400
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Cat Eye Syndrome	Microphthalmia, Umbilical hernia	OMIM:115470
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Fryns Syndrome	Microphthalmia	ORPHA:2059
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation	OMIM:223370
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Brachytelephalangic Chondrodysplasia Punctata	Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine	ORPHA:79345
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Broad lateral eyebrow, Epicanthus, Hypoplasia of the maxilla, Sparse eyebrow,...	ORPHA:500150
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia	ORPHA:464
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Pallister-Hall Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:146510
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Monosomy 13Q14	Microphthalmia, Intrauterine growth retardation	ORPHA:1587
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1052
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia, Spina bifida	ORPHA:508498
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Craniofacial Microsomia 1	Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly	OMIM:164210
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:620005
Aspartylglucosaminuria	Vacuolated lymphocytes, Neutropenia	OMIM:208400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Intrauterine growth retardation	OMIM:616975
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia	ORPHA:137675
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation	OMIM:133540
African Trypanosomiasis	Miscarriage, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Abnormality...	ORPHA:3385
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Sponastrime Dysplasia	Neutropenia	ORPHA:93357
Aicardi Syndrome	Microphthalmia, Spina bifida	OMIM:304050
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Fanconi Anemia	Spina bifida, Aplasia/Hypoplasia of the iris, Umbilical hernia, Microphthalmia, Intrauterine grow...	ORPHA:84
Roberts Syndrome	Microphthalmia, Severe intrauterine growth retardation	ORPHA:3103
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Anencephaly, Microphthalmia, Intrauterine growth retarda...	OMIM:249000
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
22Q11.2 Deletion Syndrome	Spina bifida, Meningocele, Occipital myelomeningocele, Umbilical hernia, Microphthalmia, Intraute...	ORPHA:567
Aicardi Syndrome	Microphthalmia	ORPHA:50
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Intrauterine growth retardation	OMIM:608670
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Microphthalmia, Intrauterine growth retardation	OMIM:620186
Oculocerebrorenal Syndrome Of Lowe	Buphthalmos, Microphthalmia, Umbilical hernia	ORPHA:534
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Mend Syndrome	Microphthalmia	ORPHA:401973
Monosomy 9P	Microphthalmia	ORPHA:261112
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Umbilical hernia	OMIM:613884
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Autosomal Dominant Kenny-Caffey Syndrome	Intrauterine growth retardation, Bilateral microphthalmos	ORPHA:93325
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Carious teeth, Hypoplasia of the maxilla, Eruption failure, Short denta...	OMIM:182250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Fryns Syndrome	Microphthalmia	OMIM:229850
Fontaine Progeroid Syndrome	Microphthalmia, Umbilical hernia, Intrauterine growth retardation	OMIM:612289
Degcags Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:619488
Cockayne Syndrome	Microphthalmia	ORPHA:191
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:619539
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:3472
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Witteveen-Kolk Syndrome	Microphthalmia, Intrauterine growth retardation, Branchial fistula	OMIM:613406
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Pallister-Hall Syndrome	Microphthalmia, Umbilical hernia, Intrauterine growth retardation	ORPHA:672
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Frontal encephalocele, Severe intrauterine growth retardation	OMIM:268300
Townes-Brocks Syndrome	Microphthalmia	ORPHA:857
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia	ORPHA:261537
Mowat-Wilson Syndrome	Microphthalmia	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia	ORPHA:261552
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla	OMIM:300106

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Acvr2a

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Acvr2a.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.	Nature communications (October 2017)	Acvr2a^{tm1.1(KOMP)Vlcg}	PMC5638796

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Acvr2a^{tm270449(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Acvr2a^{tm378905(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Acvr2a^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Acvr2a^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Acvr2a^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Acvr2a^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Acvr2a MGI:102806

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

X-ray

Embryo LacZ

X-ray

Gross Pathology and Tissue Collection

Eye Morphology

X-ray

X-ray

Adult LacZ

Eye Morphology

Combined SHIRPA and Dysmorphology

Human diseases caused by Acvr2a mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

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Access Data Release 20.1 Data