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Gene: Slx4 MGI:106299

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Gene Summary

Name:
SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)
Synonyms:
Btbd12,  D16Bwg1016e

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 System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Slx4tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 3)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 3)
Bone N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 100% (3 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote 66.67% (2 of 3)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 0.0% (0 of 3)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 33.33% (1 of 3)
Large intestine N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 3)
Oviduct N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 100% (3 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 3)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote 0.0% (0 of 3)
Spinal cord N/A heterozygote 100% (3 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach N/A heterozygote 0.0% (0 of 3)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 33.33% (1 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote 66.67% (2 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote 0.0% (0 of 3)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 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%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
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%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Slx4tm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Slx4tm1a(EUCOMM)Wtsi
forearm, HOM, Female, WTSI
Slx4tm1a(EUCOMM)Wtsi
forearm, HOM, Male, WTSI
Slx4tm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI
Slx4tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI

View all 204 images

Slx4tm1a(EUCOMM)Wtsi
eye, corneal opacity, cornea/lens fusion, mydriasis, narrow eye opening, HOM, Female, WTSI
Slx4tm1a(EUCOMM)Wtsi
eye, cornea/lens fusion, impaired pupillary reflex, abnormal placement of pupils, corneal opacity, HOM, Male, WTSI
Slx4tm1a(EUCOMM)Wtsi
eye, eyelids fail to open, HOM, Male, WTSI
Slx4tm1a(EUCOMM)Wtsi
eye, eyelids fail to open, HOM, Male, WTSI
Slx4tm1a(EUCOMM)Wtsi
eye, corneal opacity, narrow eye opening, abnormal iris pigmentation, cornea/lens fusion, HOM, Female, WTSI

View all 9 images

Slx4tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Slx4tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Slx4tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Slx4tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Slx4tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

View all 7 images

Slx4tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Slx4tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Slx4tm1a(EUCOMM)Wtsi
decreased retrosplenial granular cortex size, HOM, Male, WTSI
Slx4tm1a(EUCOMM)Wtsi
decreased retrosplenial granular cortex size, HOM, Male, WTSI
Slx4tm1a(EUCOMM)Wtsi
decreased retrosplenial granular cortex size, HOM, Male, WTSI

View all 6 images

Slx4tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Slx4tm1a(EUCOMM)Wtsi
WT, Male, WTSI

Human diseases caused by Slx4 mutations

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

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

The table below shows human diseases associated to Slx4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Micrognathia, Cryptorchidism, Epicanthus, Weight loss, Microphth... ORPHA:84
Fanconi Anemia, Complementation Group P
Short palpebral fissure, Growth delay, Pancytopenia, Micrognathia, Cryptorchidism, Microcephaly, ... OMIM:613951

The table below shows human diseases predicted to be associated to Slx4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microphthalmia, Syndromic 3
Postnatal growth retardation, Cryptorchidism, Anophthalmia, Agenesis of corpus callosum, Anterior... OMIM:206900
Martsolf Syndrome 2
Cataract, Lateral ventricle dilatation, Camptodactyly of finger, Decreased body weight, Hypogonad... OMIM:619420
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Cach Syndrome
Cataract, Optic atrophy, Growth delay, Lateral ventricle dilatation, Gonadal dysgenesis, Hepatosp... ORPHA:135
48,Xxyy Syndrome
Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchidism, Radioulna... ORPHA:10
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Microcornea, Optic atrophy, Failure to thrive, External genital hypopla... OMIM:600118
Microphthalmia/Coloboma 12
Ventriculomegaly, Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasi... OMIM:120200
14Q22Q23 Microdeletion Syndrome
Small scrotum, Ventriculomegaly, Downturned corners of mouth, Delayed skeletal maturation, Downsl... ORPHA:264200
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Ventriculomegaly, Hypoglycemia, Malar prominence, Intrauterine growth reta... ORPHA:48431
Congenital Disorder Of Glycosylation, Type Iig
Shallow acetabular fossae, Giant platelets, Lateral ventricle dilatation, Postnatal growth retard... OMIM:611209
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Retrognathia, Hypogonadism, Narrow mouth, Upslanted palpebral fissure, Mic... ORPHA:2528
Cofs Syndrome
Cataract, Optic atrophy, Camptodactyly of finger, Hypogonadism, Joint stiffness, Micrognathia, In... ORPHA:1466
Walker-Warburg Syndrome
Cryptorchidism, Anophthalmia, Agenesis of corpus callosum, Retinal detachment, Chorioretinal dysp... ORPHA:899
Pierpont Syndrome
Microcornea, Ventriculomegaly, Widely spaced teeth, Telecanthus, Microphthalmia, Malar flattening... ORPHA:487825
Trisomy 13
Cryptorchidism, Anophthalmia, Displacement of the urethral meatus, Abnormal retinal vascular morp... ORPHA:3378
Bilateral Striopallidodentate Calcinosis
Ventriculomegaly, Intrauterine growth retardation, Microcephaly, Thrombocytopenia, Corneal opacity ORPHA:1980
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Fanconi Anemia, Complementation Group S
Chromosome breakage, Dental malocclusion, Failure to thrive, Thick upper lip vermilion, Macrodont... OMIM:617883
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Hypospadias, Growth delay, Cryptorchidism, Anophthalmia, Agenesis ... ORPHA:77298
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Ventriculomegaly, Delayed skeletal maturation,... ORPHA:99330
Intellectual Developmental Disorder, Autosomal Dominant 48
Highly arched eyebrow, Lateral ventricle dilatation, Dilated fourth ventricle, Intrauterine growt... OMIM:617751
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Carious teeth, Micrognathia, Cryptorchidism, Death in childhood, A... OMIM:214150
Pierpont Syndrome
Abnormal peripheral nervous system morphology, Unilateral narrow palpebral fissure, Cryptorchidis... OMIM:602342
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Optic atrophy, Intrauterine growth retardation, Micrognathia, Retinopathy,... OMIM:616171
Cockayne Syndrome Type 2
Male hypogonadism, Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of th... ORPHA:90322
Adams-Oliver Syndrome 2
Optic atrophy, Lateral ventricle dilatation, Micrognathia, Microphthalmia, Microcephaly, Hydrocep... OMIM:614219
N Syndrome
Abnormality of chromosome stability, Hypospadias, Cryptorchidism OMIM:310465
Fanconi Anemia, Complementation Group O
Chromosome breakage, External genital hypoplasia, Cryptorchidism, Neonatal death OMIM:613390
Cockayne Syndrome Type 1
Postnatal growth retardation, Cryptorchidism, Anophthalmia, Delayed eruption of primary teeth, An... ORPHA:90321
Bresek Syndrome
Growth delay, Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, Neonata... ORPHA:85284
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Agenesis of corpus callosum, Hypospadias, Downslanted palpebral fissures, Butterf... OMIM:301056
Bone Marrow Failure Syndrome 3
Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Cryptorchidism, Oral ul... OMIM:617052
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Ventriculomegaly, Abnormality of chromosome stability, Aplastic an... OMIM:300514
Proteus-Like Syndrome
Genu recurvatum, Cataract, Mandibular prognathia, Thymus hyperplasia, Abnormality of the parathyr... ORPHA:2969
Kbg Syndrome
Long philtrum, Delayed skeletal maturation, Persistent open anterior fontanelle, Macrodontia, Tel... ORPHA:2332
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Eyelid coloboma, Cryptorchidism, Agenesis of corpus callosum, Orbital... OMIM:164180
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Cry... ORPHA:534
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Upslanted pa... OMIM:609637
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation, Oligodontia, Thin upper lip vermilion, Long palpebral fissure, Shor... OMIM:618330
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Lateral ventricle dilatation, Downslanted palpebral fissures, Bicoro... OMIM:618736
Holoprosencephaly
Chorioretinal coloboma, Abnormality of the spleen, Cryptorchidism, Anophthalmia, Encephalocele, E... ORPHA:2162
Alg2-Cdg
Cataract, Lateral ventricle dilatation, Downslanted palpebral fissures, Microcephaly, Epicanthus,... ORPHA:79326
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Micrognathia, Cryptorchidism, Epicanthus, Weight loss, Microphth... ORPHA:84
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Optic nerve hypoplasia, Decreased response to growth hormone stimula... OMIM:609053
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Postnatal growth retardation, Cryptorchidism, Agenesis of corpus callosum... OMIM:243310
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Upslanted palpebral fissure, Hypoplasia of the fovea, Microcephaly, Epicanthus, Pt... OMIM:620086
Ring Chromosome 21 Syndrome
Thoracic hemivertebrae, Azoospermia, Microcephaly, Amenorrhea, Fused thoracic vertebrae, Short st... ORPHA:1445
Short Syndrome
Insulin resistance, Abnormality of the dentition, Severe short stature, Abnormal mandible morphol... ORPHA:3163
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Male urethral meatus stenosis, Agenesis of... ORPHA:464738
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Obesity, Cubitus valgus, Short neck, Hydrocephalus, Short statu... ORPHA:2183
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Lateral ventricle dilatation, Long philtrum, Downslanted palpebral fissures, Retinal pi... OMIM:614105
Aarskog-Scott Syndrome
Megalocornea, Cryptorchidism, Epicanthus, Short neck, Everted lower lip vermilion, Hypoplasia of ... ORPHA:915
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
8P11.2 Deletion Syndrome
Micrognathia, Cryptorchidism, Epicanthus, Spherocytosis, Blepharophimosis, High palate, Iris colo... ORPHA:251066
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Cryptorchidism, Anophthalmia, Neonatal death, Microphthalmia, Bicornu... OMIM:615524
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Microphthalmia, Microcephaly, Anemia, Neutropenia, Thrombocy... OMIM:614082
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Chorioretinal coloboma, Anophthalmia, Orofacial cleft, Microphthalmia, ... OMIM:611638
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit OMIM:616428
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Maternal Uniparental Disomy Of Chromosome X
Camptodactyly of finger, Azoospermia, Agenesis of corpus callosum, Microcephaly, Short neck, Ambi... ORPHA:261519
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
1Q21.1 Microduplication Syndrome
Cataract, Arthrogryposis multiplex congenita, Failure to thrive, Cryptorchidism, Hydrocephalus, M... ORPHA:250994
Down Syndrome
Keratoconus, Atlantoaxial dislocation, Narrow mouth, Protruding tongue, Open mouth, Acute megakar... ORPHA:870
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Cryptorchidism, Anophthalmia, Agenesis of corpus c... ORPHA:139471
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Ventriculomegaly, Increased mean corpuscular volume, Long philtrum, Microg... ORPHA:261250
Aicardi Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Postnatal growth retardation, Prominence o... OMIM:304050
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
3Q29 Microdeletion Syndrome
Cataract, Abnormality of the dentition, Dental crowding, Failure to thrive, Downslanted palpebral... ORPHA:65286
Koolen-De Vries Syndrome
Cryptorchidism, Epicanthus, Everted lower lip vermilion, Blepharophimosis, Hypospadias, Hip dislo... ORPHA:96169
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Optic disc hypoplasia, Downslanted palpebral fiss... ORPHA:420179
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
49,Xxxxy Syndrome
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... ORPHA:96264
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Cerebrooculonasal Syndrome
Postnatal growth retardation, Anophthalmia, Encephalocele, Sparse eyelashes, Epicanthus, High pal... OMIM:605627
Koolen-De Vries Syndrome
Open mouth, Cryptorchidism, Epicanthus, Everted lower lip vermilion, Blepharophimosis, High palat... OMIM:610443
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Azoospermia, Obesity, Type II diabetes mellitus, Oligozoospermia, Infertility OMIM:615703
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Wide mouth, Lateral ventricle dilatation, Bilateral cryptorchidism OMIM:300982
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Lateral ventricle dilatation, Failure to thrive in infancy, Intrauteri... ORPHA:284417
Proboscis Lateralis
Chorioretinal coloboma, Unilateral narrow palpebral fissure, Anophthalmia, Abnormal nasolacrimal ... ORPHA:141099
Galactosialidosis
Abnormal vertebral morphology, Cherry red spot of the macula, Abnormality of the vertebral column... ORPHA:351
Cerebrooculofacioskeletal Syndrome 3
Ventriculomegaly, Intrauterine growth retardation, Micrognathia, Agenesis of corpus callosum, Mic... OMIM:616570
Intellectual Developmental Disorder, Autosomal Dominant 70
Cataract, Hypoplasia of the maxilla, Short palpebral fissure, Highly arched eyebrow, Retrognathia... OMIM:620157
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Large for gestational age, Median cleft palate, Corneal opacity, Microphthalmia ORPHA:2432
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Micrognathia, Death in infancy, Primary microcephaly, Joint contrac... OMIM:618266
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Hypopigmentation of the fundus, Myelomeningocele, Telecanthus, Thick eye... OMIM:193500
Microphthalmia With Limb Anomalies
Postnatal growth retardation, Anophthalmia, Blepharophimosis, Microphthalmia, High palate, Hip di... OMIM:206920
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation, Increased CSF lactate, Decreased nerve conduction velocity, Intraut... ORPHA:565624
Prader-Willi Syndrome Due To Translocation
Carious teeth, Lateral ventricle dilatation, Micrognathia, Short neck, Everted lower lip vermilio... ORPHA:177907
Charcot-Marie-Tooth Disease Type 1B
Increased CSF protein concentration, Peripheral dysmyelination, Decreased nerve conduction veloci... ORPHA:101082
Chromosome 2P16.1-P15 Deletion Syndrome
Joint contracture of the hand, Postnatal growth retardation, Cryptorchidism, Epicanthus, Everted ... OMIM:612513
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Gómez-López-Hernández Syndrome
Telecanthus, Hydrocephalus, Corneal opacity, Thin vermilion border, Short stature ORPHA:1532
Congenital Rubella Syndrome
Cataract, Type I diabetes mellitus, Intrauterine growth retardation, Microphthalmia, Aplasia/Hypo... ORPHA:290
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Ventriculomegaly, Decreased thalamic volume, Abnormality iris morphology, Optic atrophy... ORPHA:370959
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Folate-dependent fragile site at Xq28 OMIM:300624
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Microcephaly, Male hypogonadism, Azoospermia OMIM:241000
Mosaic Trisomy 1
Short upper lip, Microretrognathia, Lateral ventricle dilatation, Thick lower lip vermilion, Camp... ORPHA:1692
Bainbridge-Ropers Syndrome
Lateral ventricle dilatation, Supernumerary nipple, Micrognathia, Cryptorchidism, Epicanthus, Eve... OMIM:615485
Alpha-Mannosidosis
Synostosis of joints, Cataract, Craniofacial hyperostosis, Dental malocclusion, Delayed skeletal ... ORPHA:61
Trisomy 1Q
Small scrotum, Ventriculomegaly, Microretrognathia, Camptodactyly of finger, Downslanted palpebra... ORPHA:261344
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Failure to thrive, Camptodactyly of finger, Downslanted pa... ORPHA:1617
48,Xxxy Syndrome
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... ORPHA:96263
Vacterl With Hydrocephalus
Microcornea, Absence of the sacrum, Retrognathia, Abnormal form of the vertebral bodies, Abnormal... ORPHA:3412
Ataxia-Telangiectasia
Abnormality of chromosome stability, Failure to thrive, Lymphopenia, Type II diabetes mellitus, P... ORPHA:100
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Ventriculomegaly, Extra-axial cerebrospinal fluid accumulation, Kypho... OMIM:618291
Alexander Disease
Increased CSF protein concentration, Death in childhood, Death in infancy, Progressive macrocepha... OMIM:203450
48,Xyyy Syndrome
Male hypogonadism, Long philtrum, Thick lower lip vermilion, Dislocated radial head, Azoospermia,... ORPHA:99329
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse eyebrow, Lateral ventricle dilatation, Long philtrum, Thick lower lip vermilion, Downslant... OMIM:620075
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Abnormal thalamus morphology, Downslanted palpebral fissures, Conge... ORPHA:300570
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Lateral ventricle dilatation, Cryptorchidism OMIM:616816
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Microphthalmia With Linear Skin Defects Syndrome
Clitoral hypertrophy, Micrognathia, Anophthalmia, Agenesis of corpus callosum, Abnormal nasolacri... ORPHA:2556
Combined Oxidative Phosphorylation Deficiency 54
Microretrognathia, Secondary microcephaly, Hyperglycemia, Obesity, Intrauterine growth retardatio... OMIM:619737
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Dilated third ventricle, Lateral ventricle dilatation, Long philtrum, Tent... OMIM:619244
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Thrombocytopenia OMIM:209970
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Lateral ventricle dilatation OMIM:615889
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Congenital Hydrocephalus
Optic atrophy, Ventriculomegaly, Downslanted palpebral fissures, Macular hypoplasia, Colpocephaly... ORPHA:2185
Oculodentodigital Dysplasia, Autosomal Recessive
Micrognathia, Narrow mouth, Sparse eyelashes, Epicanthus, Microphthalmia, Cataract, Microcornea, ... OMIM:257850
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Microretrognathia, Microcephaly, Hydrocephalus, Macrocephaly, Flexion contracture,... OMIM:300884
Gorlin Syndrome
Abnormal vertebral morphology, Cataract, Mandibular prognathia, Carious teeth, Vertebral wedging,... ORPHA:377
Noonan Syndrome 14
High, narrow palate, Sparse eyebrow, Lateral ventricle dilatation, Long philtrum, Downslanted pal... OMIM:619745
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Sclerosis of hand bone, Hypogonadism... ORPHA:2905
Winchester Syndrome
Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Arthropathy, Corneal o... OMIM:277950
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism, Decreased body weight, Ret... OMIM:620371
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology, Ventriculomegaly, Microcephaly, Hydrocephalus, Macrocephaly OMIM:618709
Kniest Dysplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Abnormal joint morphology, S... ORPHA:485
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Distal Deletion 10Q
Lateral ventricle dilatation, Postnatal growth retardation, Micrognathia, Epicanthus, High palate... ORPHA:96148
Warburg Micro Syndrome 3
Small scrotum, Secondary microcephaly, Postnatal growth retardation, Micrognathia, Blepharophimos... OMIM:614222
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus, Macro... OMIM:600348
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Orbital craniosynostosis, Micrognathia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Micrognathia, Narrow mouth, Cryptorchidism, Agenesis of corpus callosum, Epicanthus, Aqueductal s... OMIM:619512
Emanuel Syndrome
Tooth malposition, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, High palate, Patent... ORPHA:96170
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Fumarase Deficiency
Optic atrophy, Ventriculomegaly, Conjunctival icterus, Polycythemia, Mitochondrial swelling, Fail... OMIM:606812
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Micrognathia, Cryptorchidism, Su... ORPHA:2189
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Basal Cell Nevus Syndrome 1
Cataract, Mandibular prognathia, Vertebral wedging, Cleft upper lip, Microphthalmia, Ovarian carc... OMIM:109400
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Micropenis, Histiocytosis, Delayed skeletal maturation, De... ORPHA:168569
Slc35A2-Cdg
Precocious puberty, Osteopenia, Lateral ventricle dilatation, Camptodactyly of finger, Failure to... ORPHA:356961
Charge Syndrome
Chorioretinal coloboma, Postnatal growth retardation, Narrow mouth, Cryptorchidism, Anophthalmia,... ORPHA:138
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Lateral ventricle dilatation, Downturned corners of mouth, Dilated fourth ventr... OMIM:613443
Ring Chromosome Y Syndrome
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... ORPHA:261529
Alagille Syndrome
Keratoconus, Abnormal form of the vertebral bodies, Delayed skeletal maturation, Downslanted palp... ORPHA:52
Mosaic Trisomy 9
Limitation of joint mobility, Elbow dislocation, Micrognathia, Cryptorchidism, Short neck, Microp... ORPHA:99776
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Failure to thrive, Thick upper lip vermilion, Macrodontia, Long eye... OMIM:618606
Temple Syndrome
Precocious puberty, Bifid uvula, Recurrent hypoglycemia, Decreased response to growth hormone sti... ORPHA:254516
Meckel Syndrome, Type 8
Occipital encephalocele, Cleft upper lip, Anophthalmia, Encephalocele, Microcephaly, Short neck, ... OMIM:613885
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Increased CSF lactate, Abnormal CSF pyruvate fami... ORPHA:79243
Microphthalmia, Syndromic 2
Cryptorchidism, Laterally curved eyebrow, Contracture of the proximal interphalangeal joint of th... OMIM:300166
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Optic atrophy, Contractures of the large joints, Lateral ventricle di... ORPHA:3078
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Kyphoscoliosis, Microcephaly, Ptosis, Microphthalmia, Short ... OMIM:300915
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Multiple non-erupting ... OMIM:620277
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Ventriculomegaly, Optic atrophy, Peters anomaly, Chorioretinal coloboma, Postnatal g... ORPHA:494344
Cohen Syndrome
Micrognathia, Open mouth, Cryptorchidism, Genu valgum, Neutropenia, Microphthalmia, Iris coloboma... ORPHA:193
2P15P16.1 Microdeletion Syndrome
Supernumerary nipple, Narrow mouth, Epicanthus, Everted lower lip vermilion, Blepharophimosis, Pa... ORPHA:261349
Den Hoed-De Boer-Voisin Syndrome
Carious teeth, Lateral ventricle dilatation, Secondary microcephaly, Decreased body weight, Yello... OMIM:619229
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Long philtrum, Thick lower lip vermilio... OMIM:152950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Macroglossia, Ventriculomegaly, Peters anomaly, Congenital contracture, Cleft upper lip... OMIM:613150
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Lateral ventricle dilatation, Bilateral microphthalmos ORPHA:77299
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic atrophy, Micrognathia, Cryptorchidism, Upslanted palpebral fissure, Peripheral ax... ORPHA:496790
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Retrognathia, Long philtrum, Decreased response to growth hormone stimulation test, Dec... ORPHA:280679
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Radioulnar synostosi... OMIM:194190
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Lumbar hypolordos... OMIM:271530
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Growth delay, Pancytopenia, Micrognathia, Le... ORPHA:99812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Ventriculomegaly, Elbow contracture, Microcephaly, Hyperlordosis, Vertebral fusion, Achilles tend... OMIM:606612
Lateral Meningocele Syndrome
Micrognathia, Cryptorchidism, Short neck, High palate, Patent ductus arteriosus, Downslanted palp... OMIM:130720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Ventriculomegaly, Death in childhood, Agenesis of corpus callosum, Retinal detachment, ... OMIM:613153
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Retinal pigment epithelial mottling, Tented upper lip vermilion, De... OMIM:619517
Verheij Syndrome
Small for gestational age, Growth delay, Retrognathia, Long philtrum, Intrauterine growth retarda... OMIM:615583
Distal Deletion 6P
Abnormality of the dentition, Ventriculomegaly, Downturned corners of mouth, Hypoplasia of the ir... ORPHA:96125
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Thrombocytopenia, Agenesis of corpus callosum OMIM:166990
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Temple Syndrome
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Relative macrocephaly, Dec... OMIM:616222
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Short palpebral fissure, Ventriculomegaly, Astigmatism, Cryptorchidism, Upslanted pa... OMIM:617159
Aicardi-Goutieres Syndrome 9
Optic atrophy, Lateral ventricle dilatation, Failure to thrive, Hepatosplenomegaly, Intrauterine ... OMIM:619487
Jacobsen Syndrome
Chorioretinal coloboma, Micrognathia, Cryptorchidism, Epicanthus, Short neck, Microphthalmia, Hol... OMIM:147791
Helsmoortel-Van Der Aa Syndrome
Carious teeth, Lateral ventricle dilatation, Ankyloglossia, Genu valgum, Cryptorchidism, Epicanth... OMIM:615873
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Optic atrophy, Chorioretinal coloboma, Bilateral cleft palate, Posterior embryotoxon, P... ORPHA:1473
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Lateral ventricle dilatation, Optic nerve hypoplasia OMIM:618890
Craniosynostosis 6
Lateral ventricle dilatation, Right unilambdoid synostosis, Delayed cranial suture closure, Bicor... OMIM:616602
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Micrognathia, Retinal detachment, High palate, Cataract, Long eyelashes, Colpocephaly, Optic atro... OMIM:619833
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Congenital Toxoplasmosis
Ventriculomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Abnormality of r... ORPHA:858
Anophthalmia Plus Syndrome
Eyelid coloboma, Anophthalmia, Vertebral segmentation defect, Bilateral cleft palate, Blepharophi... ORPHA:1104
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Intrauterine growth retardation, Narrow mouth, Reduced bon... ORPHA:2370
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Chorioretinal dysplasia, Microphthalmia OMIM:616335
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Agenesis of corpus callosum, Hydrocephalus, Thrombocytopenia, Anemia, Partial a... OMIM:619302
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Anterior wedging of T12, Deficient excision of UV-induced pyrimidine... OMIM:227645
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sparse eyebrow, Dilated third ventricle, Retrognathia, Lateral ventricle dilatation, Bilateral cr... ORPHA:544488
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation, Supernumerary nip... ORPHA:397715
Zika Virus Disease
Ankle swelling, Wrist swelling, Optic disc hypoplasia, Retinal pigment epithelial mottling, Intra... ORPHA:448237
Immunodeficiency 54
Adrenocorticotropic hormone excess, Chromosome breakage, Adrenal insufficiency OMIM:609981
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Lateral ventricle dilatation, Long philtrum, Supernumerary nipple, Do... ORPHA:457279
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Hyperlordosis, Hydrocephalus, Macroc... OMIM:303350
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Joint stiffness, Hyperlordosis,... ORPHA:577
Hemiparkinsonism-Hemiatrophy Syndrome
Scoliosis, Lateral ventricle dilatation ORPHA:306669
Sanjad-Sakati Syndrome
Abnormality of the dentition, Patchy osteosclerosis, Ventriculomegaly, Long philtrum, Delayed ske... ORPHA:2323
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Ventriculomegaly, Secondary microcephaly, Cryptorchidism, Death in infancy, Neonatal de... OMIM:613730
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Retinal coloboma, Hypogonadism, Obesity, Cryptorchidism, Hydrocephalus, Rod-cone dystro... OMIM:601794
Norrie Disease
Uterine rupture, Cryptorchidism, Abnormal vitreous humor morphology, Cachexia, Abnormal retinal v... ORPHA:649
Fanconi Anemia, Complementation Group D2
Pancytopenia, Cryptorchidism, Agenesis of corpus callosum, Blepharophimosis, Neutropenia, Microph... OMIM:227646
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Cryptorchidism, Anophthalmia, Bilateral c... OMIM:610829
Alexander Disease
Precocious puberty, Osteopenia, Failure to thrive, Agenesis of corpus callosum, Short neck, Ptosi... ORPHA:58
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Retinal dystrophy, Cryptorchidism, Anophthalm... OMIM:610125
Xp22.3 Microdeletion Syndrome
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia affect... ORPHA:1643
Weaver Syndrome
Joint contracture of the hand, Scoliosis, Kyphosis, Retrognathia, Lateral ventricle dilatation, L... OMIM:277590
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation, Tented upper lip vermilion, Upslanted palpebral fissure, Thin upper... OMIM:615716
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Retrognathia, Micrognathia, Joint contracture of the 5th finger, Jo... OMIM:618914
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Osteopenia, Microphthalmia, Increased susceptibility to fractures, J... ORPHA:2788
Joubert Syndrome 3
Highly arched eyebrow, Pigmentary retinopathy, Enlarged fossa interpeduncularis, Lateral ventricl... OMIM:608629
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Erythrokeratodermia Variabilis
Cataract, Microcephaly, Weight loss, Corneal opacity, Abnormal testis morphology, Short stature, ... ORPHA:317
Meckel Syndrome
Micrognathia, Cryptorchidism, Anophthalmia, Encephalocele, Male pseudohermaphroditism, Microphtha... ORPHA:564
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Cataract, Microcornea, Rhizomelia, Long philtrum, Ectopia pupillae, Cryptopht... OMIM:615877
Deleted in azoospermia
Azoospermia OMIM:400003
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus, Macrocephaly OMIM:615938
Ogden Syndrome
Palpebral thickening, Everted upper lip vermilion, Delayed cranial suture closure, Thick upper li... OMIM:300855
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Cataract, Rhizomelia, Downturned corners of mouth, Micrognathia, Agenesis of corpu... ORPHA:93267
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Ventriculomegaly, Retrognathia, Long philtrum, Secondary microcephaly, Tel... OMIM:614583
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Macrocephaly at birth, Orofacial cleft, Hydrocephalus,... ORPHA:324416
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Long eyelashes, Telecanthus, Thick eyebrow, Anophthalmia, Everted lower lip vermilion, Abnormal s... ORPHA:411986
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Supernumerary nipple, Postnatal growth retardation, Micrognathia, Epicanthus, Short neck, Beaking... OMIM:213980
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Osteopenia, Delayed skeletal maturation, Decreased response to gro... ORPHA:91348
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hydrocephalus, Microphthal... ORPHA:141333
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Postnatal growth retardation, Azoosperm... OMIM:210900
Megalencephaly, Autosomal Dominant
Hydrocephalus, Macrocephaly OMIM:155350
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Microcephaly, Lateral ventricle dilatation, Death in infancy OMIM:617668
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Trisomy 9P
Dental crowding, Downturned corners of mouth, Kyphosis, Downslanted palpebral fissures, Impacted ... ORPHA:236
Polyrrhinia
Abnormal third ventricle morphology, Orofacial cleft, Lateral ventricle dilatation ORPHA:141091
Martsolf Syndrome 1
Tooth malposition, Micrognathia, Cryptorchidism, Epicanthus, Microphthalmia, Finger joint hypermo... OMIM:212720
Pontocerebellar Hypoplasia, Type 1A
Microcephaly, Congenital contracture, Lateral ventricle dilatation, Degeneration of anterior horn... OMIM:607596
Atypical Teratoid Rhabdoid Tumor
Limitation of joint mobility, Hydrocephalus, Macrocephaly ORPHA:99966
Gapo Syndrome
Keratoconus, Micrognathia, Dysmenorrhea, Decreased skull ossification, Sparse eyelashes, Everted ... ORPHA:2067
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Macrocephaly OMIM:615937
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hypospadias, Intrauterine growth retardation, Micrognathia, Wide mouth, Astigmatism, Upslanted pa... ORPHA:363686
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Megalocornea, Micrognathia, Cryptorchidism, Agenesis of corpus callosum,... OMIM:236670
X-Linked Intellectual Disability, Wilson Type
Mandibular prognathia, Growth delay, Lateral ventricle dilatation, Microcephaly, Thick vermilion ... ORPHA:85290
Cog5-Cdg
Joint contracture of the hand, Lateral ventricle dilatation, Retrognathia, Camptodactyly of finge... ORPHA:263487
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Agenesis of corpus callosum, Hydrocephalus, Thrombocytopenia, Chronic neutropenia OMIM:619301
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Abnormally prominent line of Schwalbe, Ventriculomegaly, Abnormality o... OMIM:109120
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Growth delay, Agenesis of permanent teeth, Microcephaly, Chromosomal... OMIM:617244
Pineocytoma
Increased CSF protein concentration, Abnormal eyelid morphology, Hydrocephalus ORPHA:251912
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Short palpebral fissure, Lateral ventricle dilatation, Long philtrum, Hooded... OMIM:612863
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Rhizomelia, Abnormality of macular pigmentation, Dental malocclusion, Optic disc c... OMIM:608940
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormone challenge,... OMIM:101800
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Abnormal hemoglobin, Decreased skull ossification, Short n... ORPHA:3319
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Limitation of joint mobility, Growth delay, Ocular albinism, Ect... ORPHA:2719
Lowry-Maclean Syndrome
Megalocornea, Micrognathia, Delayed eruption of primary teeth, Hypospadias, High, narrow palate, ... ORPHA:2409
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Vertebral segmentation defect, Short neck, Short s... ORPHA:2578
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Hypogonadism, Abnormality of the ovary, Decreased testicular size, Joint hypermobility,... ORPHA:1875
Microcephaly With Cervical Spine Fusion Anomalies
Short stature, Microcephaly, Vertebral fusion, Spinal instability OMIM:251250
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Azoospermia, Decreased motor nerve conduction velocity, Hy... OMIM:613724
Cornelia De Lange Syndrome 5
Postnatal growth retardation, Micrognathia, Cryptorchidism, Short neck, High palate, Downturned c... OMIM:300882
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Long philtrum, Secondary microcephaly, Open mouth, Upslanted palpeb... OMIM:617854
Cerebrooculonasal Syndrome
Hypoplasia of penis, Sparse eyebrow, Long philtrum, Widely spaced teeth, Upslanted palpebral fiss... ORPHA:66625
Duane Retraction Syndrome
Chorioretinal coloboma, Micrognathia, Short neck, Everted lower lip vermilion, Blepharophimosis, ... ORPHA:233
Glutamine Deficiency, Congenital
Lateral ventricle dilatation, Neonatal death, Camptodactyly, Thin vermilion border, Decreased CSF... OMIM:610015
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Camptodactyly of finger, Intrauterine growth retardation, Micrognathia, ... OMIM:610756
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplastic female external genitalia, Ventriculomegaly, Long philtrum, Long eyelashes, Micrognat... OMIM:618577
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Downslanted palpebral fissures, Micrognathia, Open mouth, Epicanthus, Abnormal oral cavity morpho... ORPHA:1516
Rabin-Pappas Syndrome
Cataract, Short palpebral fissure, Highly arched eyebrow, Retrognathia, Tracheomalacia, Downslant... OMIM:620155
Tatton-Brown-Rahman Syndrome
Ventriculomegaly, Horizontal eyebrow, Everted upper lip vermilion, Talipes valgus, Thick eyebrow,... OMIM:615879
Keratoconus Posticus Circumscriptus
Keratoconus, Cleft upper lip, Limited elbow extension and supination, Short neck, Central posteri... OMIM:244600
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatosplenomegaly, Micrognathia, Pancytopenia, Optic disc pallor, ... OMIM:259720
47,Xyy Syndrome
Varicocele, Azoospermia, Malar flattening, Cryptorchidism, Congenital stationary night blindness,... ORPHA:8
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormal dental morphology, Malar prominence, Micrognathia, Mic... ORPHA:2522
Normosmic Congenital Hypogonadotropic Hypogonadism
Non-obstructive azoospermia, Cryptorchidism, Increased female libido, Primary amenorrhea, Female ... ORPHA:432
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Conical tooth, Supernumerary vertebrae, Cleft upper lip, Supernumerar... OMIM:263750
Bloom Syndrome
Micrognathia, Abscess, Sparse eyelashes, Abnormal proportion of CD8-positive T cells, Acute myelo... ORPHA:125
Aicardi Syndrome
Precocious puberty, Optic atrophy, Block vertebrae, Ventriculomegaly, Sparse lateral eyebrow, Cle... ORPHA:50
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Elbow dislocation, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Macr... ORPHA:2916
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Cryptorchidism, Death in childhood, Microcephaly, Primary microceph... OMIM:619847
Greig Cephalopolysyndactyly Syndrome
Keratoconus, Joint contracture of the hand, Ventriculomegaly, Delayed cranial suture closure, Dow... OMIM:175700
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Elevated circulating luteinizing hormone level, Retrognathia, Long philtrum, Decreased ... OMIM:300845
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Ankyloblepharon, Anophthalmia, Microphthalmia ORPHA:85275
Hemochromatosis, Type 2A
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Arthritis, Infertility OMIM:602390
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Secondary microcephaly, Malar flattening, Joint hypermobility, Kyphoscoliosis,... OMIM:614727
Pelvis-Shoulder Dysplasia
Micrognathia, Thick anterior alveolar ridges, Dislocated radial head, Iris coloboma, Microcornea,... ORPHA:2839
Temtamy Syndrome
Highly arched eyebrow, Ventriculomegaly, Ectopia lentis, Dental crowding, Long philtrum, Downslan... OMIM:218340
X-Linked Intellectual Disability, Najm Type
Cataract, Optic atrophy, Failure to thrive, Long philtrum, Chorioretinal coloboma, Micrognathia, ... ORPHA:163937
Microcephaly-Micromelia Syndrome
Short palpebral fissure, Intrauterine growth retardation, Micrognathia, Narrow mouth, Humeroradia... OMIM:251230
Stromme Syndrome
Accessory spleen, Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Micrognathi... OMIM:243605
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Downslanted palpebral fissures, Joint hypermobility, Progressive macrocephaly, ... OMIM:602501
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Hec Syndrome
Abnormal pupil morphology, Abnormal retinal vascular morphology, Vaginal hydrocele, Developmental... ORPHA:2119
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Microphthalmia, Cryptorc... OMIM:227650
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Dental crowding, Lateral ventricle dilatation, Partial agenesis of the c... OMIM:617296
Trisomy 17P
Micrognathia, Narrow mouth, Short neck, High palate, Patent ductus arteriosus, Cataract, Downslan... ORPHA:261290
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Clitoral hypertrophy, Ventriculomegaly, Retrognathia, Downslanted palpebra... OMIM:616449
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Radioulnar synostosis, Retinal detachment, Microphthalmia, Iris c... ORPHA:2712
Fg Syndrome Type 1
Slender build, Micrognathia, Open mouth, Cryptorchidism, Progressive flexion contractures, High p... ORPHA:93932
Zellweger Syndrome
Cataract, Clitoral hypertrophy, Optic atrophy, Failure to thrive, Micrognathia, Epiphyseal stippl... ORPHA:912
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Chromosome breakage, Hypoplastic sacrum, Intrauterine growth retarda... OMIM:614083
Triploidy
Cataract, Hypospadias, Intrauterine growth retardation, Micrognathia, Narrow mouth, Wide mouth, C... ORPHA:3376
Kabuki Syndrome 1
Abnormal vertebral morphology, Anoperineal fistula, Lateral ventricle dilatation, Postnatal growt... OMIM:147920
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Failure to thrive, Microphallus, Decreased response to growth hormon... OMIM:603467
Emanuel Syndrome
Micrognathia, Cryptorchidism, Delayed eruption of primary teeth, High palate, Patent ductus arter... OMIM:609029
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Ptosis, Tented upper lip vermilion, Lateral ventricle dilatation, Long philtrum OMIM:619972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Ventriculomegaly, Dilated third ventricle, Posterior synechiae of the anterior cha... OMIM:613154
Marden-Walker Syndrome
Joint contracture of the hand, Postnatal growth retardation, Micrognathia, Narrow mouth, Cryptorc... OMIM:248700
Sandestig-Stefanova Syndrome
Highly arched eyebrow, Ventriculomegaly, Retrognathia, Sparse medial eyebrow, Intrauterine growth... OMIM:618804
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Micrognathia, Narrow mouth, Enc... ORPHA:90652
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Ve... OMIM:277300
Knobloch Syndrome 1
Occipital encephalocele, Epicanthus, Retinal detachment, Optic disc pallor, Patent ductus arterio... OMIM:267750
Pettigrew Syndrome
Optic atrophy, Ventriculomegaly, Wide mouth, Microcephaly, Hydrocephalus, Calvarial osteosclerosi... OMIM:304340
Acrofacial Dysostosis 1, Nager Type
Velopharyngeal insufficiency, Micrognathia, Radioulnar synostosis, Aqueductal stenosis, Hip dislo... OMIM:154400
Gabriele-De Vries Syndrome
Abnormality of the dentition, Sparse eyebrow, Lateral ventricle dilatation, Thick lower lip vermi... OMIM:617557
Microphthalmia, Syndromic 8
Microcornea, Mandibular prognathia, Short palpebral fissure, Cleft upper lip, Cryptorchidism, Mic... OMIM:601349
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Osteopenia, Scoliosis, Optic nerve hypoplasia, Failure to thrive, Disproportionate shor... OMIM:222765
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly, Primary microcephaly, Short stature, Growth delay OMIM:614019
Myhre Syndrome
Limitation of joint mobility, Enlarged vertebral pedicles, Narrow mouth, Cryptorchidism, Short ne... OMIM:139210
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic hemivertebrae, Micrognathia, Agenesis of corpus callosum, Abnormal optic disc morphology... ORPHA:508498
Lig4 Syndrome
Failure to thrive, Pancytopenia, Type II diabetes mellitus, Astigmatism, Chronic sinusitis, Crypt... OMIM:606593
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Long philtrum, Thick lower lip vermilion, Downslanted palpebral fissures, Large for gestational a... ORPHA:137634
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Abcd Syndrome
Abnormal auditory evoked potentials, Polycythemia, Hypopigmentation of the fundus, Large for gest... OMIM:600501
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormality of the dentition, Periodontitis, Hydrocephalus, Gingivitis, Abnormal eyelash morphology ORPHA:1008
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Polymicrogyria Due To Tubb2B Mutation
Microcephaly, Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism ORPHA:908
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Dysplastic corpus callosum, Microcephaly, Corneal opacity, O... OMIM:252650
Myopathy, Tubular Aggregate, 1
Flexion contracture, Abnormal pupil morphology, Joint contracture OMIM:160565
Bilateral Generalized Polymicrogyria
Short stature, Microcephaly, Growth delay, Lateral ventricle dilatation ORPHA:208447
Shashi-Pena Syndrome
Highly arched eyebrow, Ventriculomegaly, Kyphosis, Retrognathia, Hypoglycemia, Long eyelashes, In... OMIM:617190
Khan-Khan-Katsanis Syndrome
Lymphopenia, Micrognathia, Epiblepharon, Neutropenia, Peters anomaly, Patent ductus arteriosus af... OMIM:618460
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Sparse lateral eyebrow, Widely spaced teeth, Micrognathia, Astigmatism, Knee flexion co... OMIM:619694
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal growth retardation, G... OMIM:253220
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Synostosis of carpal bones, Elbow dislocation... ORPHA:1106
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Failure to thrive, Hypogonadism, Cryptorchidism, Micro... ORPHA:500055
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
3C Syndrome
Chorioretinal coloboma, Postnatal growth retardation, Micrognathia, Short neck, Hypospadias, Iris... ORPHA:7
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Hypoplasia of the maxilla, Abnormal optic nerve morphology, Long philtrum, M... ORPHA:1101
Gombo Syndrome
Microcephaly, Delayed puberty, Microphthalmia OMIM:233270
Fryns Microphthalmia Syndrome
Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Unicornuate uterus, Ne... OMIM:600776
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Widely spaced primary teeth, Decreased testicular size, Panhypopituitarism, Wide ... OMIM:300953
Icf Syndrome
Abnormality of chromosome stability, Lymphopenia, Micrognathia, Communicating hydrocephalus, Prot... ORPHA:2268
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Microphthalmia, Cryptorc... OMIM:600901
White-Sutton Syndrome
Hypoplastic cervical vertebrae, Micrognathia, Short neck, Rod-cone dystrophy, High palate, Iris c... OMIM:616364
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:604213
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Dental crowding, Exaggerated median tongue furrow, Hyperplasia of the maxilla, Lum... ORPHA:313892
Gm1 Gangliosidosis
Cherry red spot of the macula, Hepatosplenomegaly, Narrow mouth, Abnormal scrotum morphology, Wei... ORPHA:354
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microcephaly, Hydrocephalus, Developmental cataract, Microphthalmia, Macroglossia, Flexion contra... OMIM:613155
1Q44 Microdeletion Syndrome
Ventriculomegaly, Growth delay, Optic disc hypoplasia, Telecanthus, Micrognathia, Upslanted palpe... ORPHA:238769
Mucous Membrane Pemphigoid
Gingivitis, Oral mucosal blisters, Corneal opacity ORPHA:46486
Chromosome 6Pter-P24 Deletion Syndrome
Narrow mouth, Axenfeld anomaly, Agenesis of corpus callosum, Epicanthus, Posterior embryotoxon, S... OMIM:612582
Microphthalmia/Coloboma 4
Microphthalmia, Microcornea, Orbital cyst OMIM:251505
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Megalocornea, Subluxation of the small joints of the hand, Microgn... ORPHA:536471
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Lateral ventricle dilatation, Failure to thrive, Lacrimal duct atresi... OMIM:300952
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Abnormality of the dentition, Downturned corners of mouth, Campt... ORPHA:284160
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Secondary microcephaly, Lymphopenia, Pancytopenia, Micrognathia, Open mouth, Epicanthus, High pal... OMIM:620654
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Albers-Schönberg Osteopetrosis
Abnormality of the dentition, Optic atrophy, Carious teeth, Mandibular osteomyelitis, Joint dislo... ORPHA:53
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Failure to thrive, Hypoglycemia, Downslanted palpebral fissures, Dea... OMIM:620609
Neurocardiofaciodigital Syndrome
Cataract, Sparse eyebrow, Small for gestational age, Lateral ventricle dilatation, Retrognathia, ... OMIM:619869
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lateral ventricle dilatation, Secondary microcephaly, Micrognathia, Narrow mouth, Hip contracture... OMIM:300868
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Small for gestational age, Horizontal eyebrow, Failure to thrive, Diastema, Dec... OMIM:609757
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Short neck, Tarsal synostosis, Popliteal pterygium, Cervical ... OMIM:178110
Paganini-Miozzo Syndrome
Lateral ventricle dilatation, Downturned corners of mouth, Downslanted palpebral fissures, Malar ... OMIM:301025
Intellectual Developmental Disorder, Autosomal Dominant 52
Downturned corners of mouth, Bilateral cryptorchidism, Lumbar hyperlordosis, Open mouth, Astigmat... OMIM:617796
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Pathologic fracture, Peripheral demyelination, Lateral ventricle dilatation, Axonal loss OMIM:221770
Takenouchi-Kosaki Syndrome
Cryptorchidism, Hypospadias, Patent ductus arteriosus, Sparse eyebrow, Downturned corners of mout... OMIM:616737
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Optic atrophy, Micrognathia, Narrow mouth, Cryptorchidism, Agenesis of cor... ORPHA:3301
Forsythe-Wakeling Syndrome
Delayed skeletal maturation, Decreased body weight, Microcephaly, Thrombocytopenia, Short stature... OMIM:613606
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Abnormal form of the vertebral bodies, Abnormality of the uterus, Intrauterine... ORPHA:1788
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Giant Axonal Neuropathy 1, Autosomal Recessive
Sensory axonal neuropathy, Lateral ventricle dilatation, Motor axonal neuropathy, Decreased numbe... OMIM:256850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Retinal detachment, Hydrocephalus, Microphthalmia, Optic nerve hypoplasia OMIM:615181
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Fried Syndrome
Abnormal optic nerve morphology, Hydrocephalus, High palate, Short philtrum, Scoliosis ORPHA:85335
Cartilage-Hair Hypoplasia
Epicanthus, Short neck, Neutropenia, Abnormal bone ossification, Sparse eyebrow, Abnormality of c... ORPHA:175
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Thoracic hemivertebrae, Micrognathia, Cryptorchidism, Epicanthus,... OMIM:268310
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Agenesis of corpus callosum, Microcephaly, Microphthalmia, Grow... OMIM:274270
Multiple Sulfatase Deficiency
Cataract, Optic atrophy, Joint stiffness, Thick eyebrow, Splenomegaly, Abnormality of peripheral ... ORPHA:585
Harel-Yoon Syndrome
Optic atrophy, Mandibular prognathia, Micrognathia, Upslanted palpebral fissure, Peripheral axona... OMIM:617183
Noonan Syndrome 4
Sparse eyebrow, Dental malocclusion, Delayed skeletal maturation, Downslanted palpebral fissures,... OMIM:610733
Mirage Syndrome
Hypospadias, Microphallus, Hypoglycemia, Lymphopenia, Leukopenia, Decreased testicular size, Intr... OMIM:617053
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Amegakaryocytic thrombocytopenia ORPHA:71289
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Genu valgum, Astigmatism, Patellar subluxation, Hydrocephalus, Macrocephaly, Mandi... OMIM:248000
Wars2-Related Combined Oxidative Phosphorylation Defect
Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle, Intrauterine growth ret... ORPHA:572798
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Hemochromatosis, Type 1
Azoospermia, Glucose intolerance, Splenomegaly, Arthropathy, Hypogonadotropic hypogonadism, Ameno... OMIM:235200
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Failure to thrive, Hypoglycemia, Microcephaly, Thrombocytopenia ORPHA:67048
Smith-Kingsmore Syndrome
Ventriculomegaly, Rhizomelia, Long philtrum, Downslanted palpebral fissures, Hypoglycemia, Large ... OMIM:616638
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Ventriculomegaly, Hypoplastic acetabulae, Cherry red spot of the macula, Splenomeg... OMIM:230650
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Death in infancy, Developmental cataract, Corneal opacity, Micropenis, Flexion co... OMIM:618815
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Conical tooth, Optic atrophy, Dental malocclusion, Ectopia pupillae, Unilateral narrow ... OMIM:618727
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Camptodactyly,... OMIM:113000
Ring Chromosome 22 Syndrome
Neurofibroma, Azoospermia, Thick eyebrow, Protruding tongue, Agenesis of corpus callosum, Microce... ORPHA:1446
Temtamy Syndrome
Chorioretinal coloboma, Thick lower lip vermilion, Telecanthus, Micrognathia, Abnormal palate mor... ORPHA:1777
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Sialidosis Type 2
Abnormal macular morphology, Splenomegaly, Corneal opacity, Short stature, Osteoporosis, Flexion ... ORPHA:87876
1Q21.1 Microdeletion Syndrome
Cataract, Failure to thrive, Long philtrum, Ankyloglossia, Intrauterine growth retardation, Crypt... ORPHA:250989
Warburg Micro Syndrome 4
Small scrotum, Microcornea, Optic atrophy, Decreased motor nerve conduction velocity, Long philtr... OMIM:615663
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Lead Poisoning
Delayed eruption of teeth, Imbalanced hemoglobin synthesis, Decreased male libido, Abnormality of... ORPHA:330015
Short Syndrome
Insulin resistance, Cataract, Dental malocclusion, Downturned corners of mouth, Delayed eruption ... OMIM:269880
Alg13-Cdg
Abnormal lateral ventricle morphology, Long philtrum, Decreased body weight ORPHA:324422
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Epicanthus, Short neck, Retinal detachment, Abnormal bone ossification, Microphthal... ORPHA:163649
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Cleft lip, Kyphosis, Ectopia pupillae, Decreased response to growth h... OMIM:618223
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Megaloblastic anemia, Primary microcephaly, Thrombocytopenia, Developm... OMIM:601815
Pituitary Apoplexy
Mydriasis, Pituitary adenoma, Increased circulating prolactin concentration, Hypoglycemia, Hypopi... ORPHA:95613
Craniotelencephalic Dysplasia
Optic atrophy, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Frontal encephalocele, M... ORPHA:1528
Cardiofaciocutaneous Syndrome 4
Cataract, Decreased response to growth hormone stimulation test, Telecanthus, Sparse eyelashes, J... OMIM:615280
Microphthalmia, Lenz Type
Cataract, Microcornea, Abnormality of the dentition, Hypospadias, Delayed eruption of teeth, Anky... ORPHA:568
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Ret... OMIM:106210
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Neurooculorenal Syndrome
Ectopic posterior pituitary, Highly arched eyebrow, Ventriculomegaly, Recurrent hypoglycemia, Pos... OMIM:620305
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Epicanthus, Microcoria, ... ORPHA:93357
Apert Syndrome
Bifid uvula, Hypoplasia of the maxilla, Ventriculomegaly, Optic atrophy, Delayed eruption of teet... ORPHA:87
2Q31.1 Microdeletion Syndrome
Micrognathia, Cryptorchidism, Epicanthus, Short neck, Everted lower lip vermilion, Microphthalmia... ORPHA:251014
Micro Syndrome
Cataract, Microcornea, Optic atrophy, Kyphosis, Retinal coloboma, Joint stiffness, Micrognathia, ... ORPHA:2510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Ventriculomegaly, Retinal dysplasia, Peters anomaly, Retrognathia, Death in childhood, ... OMIM:614643
Trichothiodystrophy 3, Photosensitive
Cataract, Carious teeth, Natal tooth, Failure to thrive, Bilateral cryptorchidism, Lymphopenia, I... OMIM:616395
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Hepatosplenomegaly, Pancytopenia, Intrauterine growth retardation, Splenomegaly... OMIM:610333
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Ventriculomegaly, Optic nerve hypoplasia, Horizontal eyebrow, Everted upper lip vermilion, Long e... OMIM:618381
D-2-Hydroxyglutaric Aciduria 1
Lateral ventricle dilatation, Micrognathia, Elevated CSF D-2-hydroxyglutaric acid concentration, ... OMIM:600721
Cousin Syndrome
Joint contracture of the hand, Dislocation of the femoral head, Micrognathia, Humeroradial synost... OMIM:260660
Hyperlysinemia, Type I
Ectopia lentis, Elevated CSF saccharopine concentration, Increased CSF lysine concentration, Decr... OMIM:238700
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Micrognathia, Narrow mouth, Cryptorchidism, Patellar aplasia, Dysplastic p... OMIM:265000
Edinburgh Malformation Syndrome
Downturned corners of mouth, Failure to thrive, Joint stiffness, Micrognathia, Narrow mouth, Acce... ORPHA:1895
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Microcephaly, Thrombocytopenia, Patent ductus art... OMIM:617397
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Microphthalmia, High palate, Holoprosencephaly, Sparse eyeb... OMIM:612530
45,X/46,Xy Mixed Gonadal Dysgenesis
Micrognathia, Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Epicanthus, Chordee, Abn... ORPHA:1772
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Abnormally large globe, Long philtrum, Downslanted palpebral fissures, Retinal coloboma, Postnata... OMIM:300749
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Postnatal growth retardation, Stippling of the epiphyses of the d... ORPHA:79345
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Platyspondyly, Long philtrum, Abnormal eyebrow morphology, Joint... ORPHA:85194
Transcobalamin Deficiency
Abnormality of chromosome stability, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Mosaic Variegated Aneuploidy Syndrome 1
Postnatal growth retardation, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Epicanth... OMIM:257300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Tooth malposition, Lateral ventricle dilatation, Ectopia pupillae, Secondary microcephaly, Genu v... ORPHA:261552
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Irregular dentition, Cryptorchidism... OMIM:602535
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae, Congenital ptosis OMIM:192800
Vitamin K Antagonist Embryofetopathy
Cataract, Optic atrophy, Myelomeningocele, Punctate vertebral calcifications, Epiphyseal stipplin... ORPHA:1914
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cataract, Abnormality of retinal pigmentation, Microcephaly, Retinal detachment, Ch... OMIM:251270
Witteveen-Kolk Syndrome
Hyperplasia of the maxilla, Male urethral meatus stenosis, Narrow mouth, Open mouth, Type II diab... OMIM:613406
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Glucose intolerance, Abnormality of the cervical spine, Hypergo... OMIM:307500
Mucopolysaccharidosis Type 1
Optic atrophy, Joint dislocation, Abnormal form of the vertebral bodies, Thick lower lip vermilio... ORPHA:579
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin... OMIM:620103
Acrofacial Dysostosis, Cincinnati Type
Median pseudocleft lip, Micrognathia, Cryptorchidism, Decreased body weight, Epicanthus, Aqueduct... OMIM:616462
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Narrow mouth, Cryptorchidism, Agenesis of corpus callosum, Severe failure to thrive, Abnormality ... ORPHA:468631
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Delayed skeletal maturation, Thick lower lip vermilion, Cryptorchidism, Abnormal p... ORPHA:2701
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular fossae, Micrognath... OMIM:201000
Morquio Syndrome C
Platyspondyly, Severe short stature, Corneal opacity OMIM:252300
Monosomy 9Q22.3
Narrow mouth, Epicanthus, Short neck, Microphthalmia, Cataract, Downslanted palpebral fissures, R... ORPHA:77301
Idiopathic Uveal Effusion Syndrome
Increased CSF protein concentration, Subretinal fluid, Exudative retinal detachment, Abnormal ant... ORPHA:209956
Frontonasal Dysplasia 1
Cataract, Hypoplasia of the maxilla, Joint contracture of the hand, Cranium bifidum occultum, Ant... OMIM:136760
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Oculomaxillofacial Dysostosis
Abnormality of the dentition, Camptodactyly of finger, Aplasia/Hypoplasia of the eyebrow, Microgn... ORPHA:1794
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Dilated fourth ventricle, Chorioretinal atrophy, Posterior embryotoxon, Hydroc... OMIM:220220
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Ventriculomegaly, Failure to thrive, Increased CSF lactate, Intrauterine growth re... OMIM:616034
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Death in childhood, CSF lymphocytic pleiocytosis, Progressive microcephaly, T... OMIM:610329
Cockayne Syndrome B
Carious teeth, Limitation of joint mobility, Postnatal growth retardation, Cryptorchidism, Death ... OMIM:133540
Schimke Immuno-Osseous Dysplasia
Shallow acetabular fossae, Lymphopenia, Short neck, Disproportionate short-trunk short stature, N... ORPHA:1830
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Insulin-resistant diabetes mellitus, Microcytic anemia, Micrognathia, Genu valgum, Cryptorchidism... ORPHA:293967
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Abnormal lateral ventricle morphology, Joint hypermobility, Thin... ORPHA:488635
Histiocytosis-Lymphadenopathy Plus Syndrome
Corneal arcus, Type I diabetes mellitus, Retrognathia, Pancreatic hypoplasia, Camptodactyly of fi... OMIM:602782
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, R... ORPHA:363741
Hajdu-Cheney Syndrome
Micrognathia, Narrow mouth, Cryptorchidism, Genu valgum, Absent frontal sinuses, Crowded carpal b... OMIM:102500
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Carious teeth, Facial paralysis, Failure to thrive, Sandwich appearance of vertebr... OMIM:259700
Diencephalic Syndrome
Optic atrophy, Long penis, Decreased body weight, Cachexia, Hydrocephalus, Everted lower lip verm... ORPHA:1672
Bartsocas-Papas Syndrome
Synostosis of joints, Popliteal pterygium, Ankyloblepharon, Aplasia/Hypoplasia of the eyebrow, Mi... ORPHA:1234
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology, Cryptorchidism, Submucous cleft hard palate, Upslanted palpebral fis... ORPHA:250999
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Abnormal nasolacrimal system morphology, Epicanthus, Retinal detachment, Microphtha... ORPHA:2526
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Cryptorchidism, Beaking of vertebral bodies, H... OMIM:150250
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Hypogonadism, Cryptorchidism, Testicular seminoma, Corneal opacity, Short stature ORPHA:281090
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Severe short stature, Rhizomelia, Ectopia pupillae, Retinal thinning, Microphthalm... ORPHA:85167
Otodental Syndrome
Cataract, Microcornea, Carious teeth, Periodontitis, Abnormality of canine, Abnormal dental pulp ... ORPHA:2791
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Vertebral segmentation defect, Vertebral fusion, Patent ductus arteriosus, Sacr... OMIM:618845
Mmep Syndrome
Cryptorchidism, Median cleft upper lip, Microcephaly, Orofacial cleft, Microphthalmia, Mandibular... ORPHA:3434
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane, Widely-spaced incisors, Precocious puberty ORPHA:79414
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Microcephaly, Elevated hemoglobin A1c, Diabetes mellitus, Small for... OMIM:619278
Microphthalmia, Syndromic 9
Severe short stature, Multilobulated spleen, Bilateral microphthalmos, Intrauterine growth retard... OMIM:601186
Hurler Syndrome
Hypoplasia of the odontoid process, Bilateral ptosis, Hepatosplenomegaly, Gingival overgrowth, Th... OMIM:607014
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Astigmatism, Macular dots, Enamel hypoplasia, Opacificati... OMIM:270200
Edinburgh Malformation Syndrome
Failure to thrive, Death in infancy, Accelerated skeletal maturation, Hydrocephalus, U-Shaped upp... OMIM:129850
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the vertebral column, Cleft upper lip, Azoospermia, Micrognathia, Short stature, H... OMIM:601076
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Abnormality of the dentition, Conical tooth, Small scrotum, Coronal craniosynostosis, Hypogonadis... ORPHA:228390
Lamb-Shaffer Syndrome
Optic atrophy, Thoracic kyphosis, Micrognathia, Mild postnatal growth retardation, Microcephaly, ... ORPHA:530983
Familial Congenital Mirror Movements
Hypogonadotropic hypogonadism, Fused cervical vertebrae, Agenesis of corpus callosum ORPHA:238722
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Thoracolumbar kyphosis, Cholelithiasis, Ventriculomegaly, Growth delay, Abnormality of the spleen... ORPHA:2072
Dubowitz Syndrome
Delayed cranial suture closure, Abnormal female external genitalia morphology, Postnatal growth r... ORPHA:235
Lathosterolosis
Micrognathia, Abnormal thoracic spine morphology, Epicanthus, Abnormal platelet morphology, High ... ORPHA:46059
Dubowitz Syndrome
Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Megalocornea, Postnatal growth reta... OMIM:223370
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Microcornea, Retrognathia, Partial agenesis of the corpus callosum, Decreased fert... OMIM:234050
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy, Primary amenorrhea OMIM:616947
Oculocerebrocutaneous Syndrome
Iris coloboma, Congenital hip dislocation, Ventriculomegaly, Cryptorchidism, Eyelid coloboma, Oro... ORPHA:1647
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Ventriculomegaly, Downslanted palpebral fissures, Microcephaly, Macrocephaly, Opti... OMIM:613638
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Lateral ventricle dilatation, Elbow dislocation, Micrognathia, C... OMIM:210710
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal cranial nerve morphology, Cervical C2/C3 vertebral ... ORPHA:2345
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Micrognathia, Upslanted palpebral fissure, Splenomegaly, Aqueduc... ORPHA:3035
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Lateral ventricle dilatation, Optic nerve compression, Splenomegaly, Death in chil... OMIM:612301
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Ventriculomegaly, Retrognathia, Failure to thrive, Pancytopenia, Intrauterine grow... OMIM:614576
Metatropic Dysplasia
Severe short stature, Cataract, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bo... ORPHA:2635
Dermoids Of Cornea
Corneal opacity OMIM:304730
Fibular Hemimelia
Hypoplastic acetabulae, Limitation of joint mobility, Limited knee flexion/extension, Joint stiff... ORPHA:93323
De Barsy Syndrome
Postnatal growth retardation, Narrow mouth, Cryptorchidism, Epicanthus, High palate, Patent ductu... ORPHA:2962
Glutaric Acidemia I
Failure to thrive, Lateral ventricle dilatation, Hypoglycemia, Symmetrical progressive peripheral... OMIM:231670
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Retrognathia, Glandular hypospadias, Cleft soft palate, Smooth phil... ORPHA:293725
Trichothiodystrophy
Carious teeth, Cryptorchidism, Epicanthus, Neutropenia, High, narrow palate, Osteopenia, Microcor... ORPHA:33364
Infantile Sialic Acid Storage Disease
Osteopenia, Failure to thrive, Gingival overgrowth, Splenomegaly, Death in childhood, Epicanthus,... OMIM:269920
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Hypogonadism, E... ORPHA:2250
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Foveal Hypoplasia 2
Foveal hyperpigmentation, Astigmatism, Axenfeld anomaly, Optic nerve misrouting, Hypoplasia of th... OMIM:609218
Charge Syndrome
Lymphopenia, Unilateral microphthalmos, Micrognathia, Postnatal growth retardation, Cryptorchidis... OMIM:214800
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Recurrent sinusitis, Reduced progressive sperm motility, Short spe... OMIM:620438
Woolly Hair
Cataract, Abnormal pupil morphology, Sparse lateral eyebrow, Abnormal retinal morphology ORPHA:170
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Obesity, Micrognathia, Malar flattening, Cryptorchidism, Radioulnar synostosis, Mi... ORPHA:171839
Atelis Syndrome 1
Cataract, Carious teeth, Long philtrum, Downslanted palpebral fissures, Leukopenia, Lumbar kyphos... OMIM:620184
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Small for gestational age, Delayed vertebral ossification, Genu valgum, Delayed pubic bone ossifi... OMIM:613330
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Clitoral hypertrophy, Hypospadias, Peters anomaly, Pigmentary retinopathy, Agenesis of ... OMIM:309801
Schimke Immunoosseous Dysplasia
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Short neck, Disproportionate short-trunk sh... OMIM:242900
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Dilated third ventricle, Lateral ventricle dilatation, Failure to thrive, An... OMIM:619575
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Dilated fourth ventricle, Primary microcephaly, Microphthalmia, Partial agenes... OMIM:615771
Young Syndrome
Azoospermia OMIM:279000
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... OMIM:278760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Agenesis of corpus callosum, Retinal degeneration, Microcephaly... OMIM:615249
Chromosome 1P36 Deletion Syndrome, Distal
Lateral ventricle dilatation, Cryptorchidism, Agenesis of corpus callosum, Epicanthus, Blepharoph... OMIM:607872
Wolfram Syndrome 1
Cataract, Optic atrophy, Pigmentary retinopathy, Growth delay, Sideroblastic anemia, Ptosis, Mega... OMIM:222300
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Kleeblattschaedel
Recurrent corneal erosions, Craniosynostosis, Elbow ankylosis, Hydrocephalus OMIM:148800
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Cryptorchidism, Epicanthus, Short neck, High palate, Patent ductus arteriosus, Delayed skeletal m... OMIM:617506
Sialidosis Type 1
Cataract, Abnormal form of the vertebral bodies, Delayed skeletal maturation, Thick lower lip ver... ORPHA:812
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Cleft upper lip, Intrauterine growth retardation, Micrognathia, Increased susc... OMIM:312150
Hallermann-Streiff Syndrome
Natal tooth, Chorioretinal coloboma, Micrognathia, Narrow mouth, Cryptorchidism, Sparse eyelashes... OMIM:234100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hypochromia, Poikilocytosis, Anemi... OMIM:615234
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Downturned corners of mouth, Tooth agenesis, Cervical platyspondyly, Macrodontia, Microcephaly, C... OMIM:618731
Kbg Syndrome
Cryptorchidism, Short neck, Widely-spaced maxillary central incisors, Vertebral arch anomaly, Epi... OMIM:148050
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Narrow mouth, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Decreased bo... OMIM:614833
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Ankle clonus, Short stature, High palate, Scoliosis, Sacral dimple OMIM:619995
Lissencephaly Due To Tuba1A Mutation
Ventriculomegaly, Microretrognathia, Dilated fourth ventricle, Agenesis of corpus callosum, Dyspl... ORPHA:171680
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Microcephaly, Optic atrophy, Hydrocephalus OMIM:619470
Solitary Median Maxillary Central Incisor
Cleft upper lip, Decreased response to growth hormone stimulation test, Prominent median palatal ... OMIM:147250
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Elevated circulating luteinizing hormone level, Limitation of join... ORPHA:95699
Focal Dermal Hypoplasia
Chorioretinal coloboma, Supernumerary nipple, Cryptorchidism, Anophthalmia, Agenesis of corpus ca... OMIM:305600
Sengers Syndrome
Cataract, Osteopenia, Thrombocytopenia, Developmental cataract, Premature ovarian insufficiency, ... OMIM:212350
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Hydrocephalus, Stillbirth, Aq... OMIM:276950
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Anencephaly 2
Short palpebral fissure, Median cleft palate, Anophthalmia, Median cleft upper lip, Cleft maxilla... OMIM:619452
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Optic atrophy, Failure to thrive, Intrauterine growth retardation, Cryptorchidism,... OMIM:615597
Hajdu-Cheney Syndrome
Periodontitis, Open bite, Micrognathia, Narrow mouth, Decreased skull ossification, Absent fronta... ORPHA:955
Fraser Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Anophthalmia, Encephalocele, Absent eyelashes, Absent eyebr... OMIM:219000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lateral ventricle dilatation, Absent gallbladder, Epicanthus, Hypoplasia of the maxilla, Sparse e... ORPHA:500150
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Retinopathy, Hydrocephalus, Failure to thrive ORPHA:26
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
5Q14.3 Microdeletion Syndrome
Ventriculomegaly, Thick eyebrow, Open mouth, Upslanted palpebral fissure, Short philtrum, Optic n... ORPHA:228384
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Accelerated skeletal maturation, Oligozoospermia, Macroorchidism,... ORPHA:3000
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h... OMIM:616007
Nabais Sa-De Vries Syndrome, Type 1
Highly arched eyebrow, Optic nerve hypoplasia, Downslanted palpebral fissures, Long eyelashes, Te... OMIM:618828
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Tooth malposition, Lateral ventricle dilatation, Secondary microcephaly, Genu valgum, Open mouth,... ORPHA:261537
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Agenesis of corpu... ORPHA:95494
Progeria-Short Stature-Pigmented Nevi Syndrome
Insulin-resistant diabetes mellitus, Microcytic anemia, Micrognathia, Premature ovarian insuffici... ORPHA:2959
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Unilateral Ocular Duplication
Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Encephalocele, Median cleft ... ORPHA:3374
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Downturned corners of mouth, Decreased testicular size, Hypoplasia of eyelid, Clef... OMIM:619321
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:611808
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Sparse eyebrow, Hypoplastic cervical vertebrae, Downslanted palpebral fiss... ORPHA:35173
Linear Verrucous Nevus Syndrome
Genu recurvatum, Cataract, Iris coloboma, Abnormal cornea morphology, Ventriculomegaly, Reduced b... ORPHA:2611
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Lissencephaly 8
Cataract, Ventriculomegaly, Optic atrophy, Occipital encephalocele, Microcephaly, Microphthalmia OMIM:617255
Chromosome 13Q33-Q34 Deletion Syndrome
Micrognathia, Open mouth, Irregular dentition, Cryptorchidism, Agenesis of corpus callosum, Encep... OMIM:619148
Pallister-Hall-Like Syndrome
Hip dislocation, Microglossia, Occipital encephalocele, Micrognathia, Death in infancy, Median cl... OMIM:241800
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Optic nerve hypoplasia, Agenesis of corpus callosum ORPHA:250972
Kabuki Syndrome
Cryptorchidism, Vertebral clefting, High palate, Hypospadias, Hip dislocation, Precocious puberty... ORPHA:2322
Distal Triplication 15Q
Scoliosis, Kyphosis, Retrognathia, Telecanthus, Micrognathia, Large for gestational age, Intraute... ORPHA:314588
Fryns Syndrome
Hypospadias, Ventriculomegaly, Long philtrum, Micrognathia, Tented upper lip vermilion, Cryptorch... ORPHA:2059
Optic Atrophy 11
Optic atrophy, Ventriculomegaly, Cherry red spot of the macula, Facial diplegia, Splenomegaly, Mi... OMIM:617302
Incontinentia Pigmenti
Supernumerary nipple, Retinal detachment, Microphthalmia, Cataract, Hypodontia, Orofacial cleft, ... ORPHA:464
Congenital Sialidosis Type 2
Cataract, Optic atrophy, Cherry red spot of the macula, Hepatosplenomegaly, Gingival overgrowth, ... ORPHA:93400
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Bifid uvula, Microcornea, Microglossia, Small scrotum, Retrognathia,... OMIM:607932
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Sparse eyebrow, Ventriculomegaly, Rhizomelia, Failure to thrive, Downslanted palpebral ... OMIM:302960
Mucopolysaccharidosis Type 4
Platyspondyly, Abnormality of the dentition, Carious teeth, Joint dislocation, Delayed skeletal m... ORPHA:582
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Mucopolysaccharidosis, Type Ivb
Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Disproportionate short-trunk shor... OMIM:253010
Neovascular Glaucoma
Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropion, Retino... ORPHA:94058
Rothmund-Thomson Syndrome, Type 2
Micrognathia, Cryptorchidism, Sparse eyelashes, Absent eyelashes, Epicanthus, Absent eyebrow, Nar... OMIM:268400
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Highly arched eyebrow, Microcornea, Hypoplasia of the uterus, Female infe... OMIM:110100
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Clitoral hypertrophy, Joint contracture of the hand, Pigmentary retinopathy, Failure to... OMIM:214110
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic anemia, Co... OMIM:249270
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Micrognathia, Cryptorchidism, Epicanthus, Short neck, Holoprosencephaly, Hy... ORPHA:818
Gracile Bone Dysplasia
Failure to thrive, Ankyloglossia, Aniridia, Death in infancy, Decreased skull ossification, Short... OMIM:602361
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... ORPHA:93315
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Carious teeth, Mandibular osteomyelitis, Facial paralysis, Extramedullary hematopo... OMIM:259710
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Ventriculomegaly, Retinal dysplasia, Optic atrophy, Camptodactyly of finger, Intrauteri... ORPHA:272
Amed Syndrome, Digenic
Bone marrow hypocellularity, Failure to thrive, Leukopenia, Telecanthus, Microcephaly, Acute myel... OMIM:619151
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Delayed peripheral myelination, Everted lower lip vermilion, Microphthalmia, Pier... ORPHA:364577
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Highly arched eyebrow, Downturned corners of mouth, Long philtrum, Downslanted palpe... ORPHA:404440
Dworschak-Punetha Neurodevelopmental Syndrome
Sparse lateral eyebrow, Optic disc hypoplasia, Microdontia, Dysplastic corpus callosum, Microceph... OMIM:619955
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Postnatal growth retardation, Hypospadias, Patent ductus arteriosus, Sparse eyebrow, Downturned c... ORPHA:487796
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Elbow dislocation, Open bite, Cryptorchidism, Radial head subluxation, Blepharophimosis, Optic di... OMIM:620083
Stuve-Wiedemann Syndrome 2
Intrauterine growth retardation, Neonatal death, Death in adolescence, Thrombocytopenia, Stillbir... OMIM:619751
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Cerebrooculofacioskeletal Syndrome 4
Micrognathia, Death in childhood, Decreased body weight, Blepharophimosis, Dislocated radial head... OMIM:610758
Hurler Syndrome
Abnormal vertebral morphology, Abnormal nerve conduction velocity, Limitation of joint mobility, ... ORPHA:93473
Pseudo-Torch Syndrome 1
Cataract, Ventriculomegaly, Cleft lip, Microretrognathia, Failure to thrive, Long philtrum, Incre... OMIM:251290
Cockayne Syndrome A
Carious teeth, Limitation of joint mobility, Cryptorchidism, Hip contracture, Delayed eruption of... OMIM:216400
Familial Dysautonomia
Optic atrophy, Growth delay, Osteolysis, Abnormal pupil morphology, Heterochromia iridis, Avascul... ORPHA:1764
Premature Aging Syndrome, Penttinen Type
Delayed cranial suture closure, Micrognathia, Flexion contracture of finger, Microphthalmia, Hypo... OMIM:601812
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Treacher-Collins Syndrome
Small scrotum, Open bite, Micrognathia, Narrow mouth, Cryptorchidism, Encephalocele, Absent eyela... ORPHA:861
Atelis Syndrome 2
Short palpebral fissure, Kyphosis, Downturned corners of mouth, Diastema, Thick lower lip vermili... OMIM:620185
Acro-Renal-Ocular Syndrome
Cataract, Microcornea, Short palpebral fissure, Optic disc hypoplasia, Chorioretinal coloboma, Op... ORPHA:959
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Hydrocephalus, Bicornuate uterus, Cleft palate OMIM:258320
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation, Agenesis of corpus callosum, Microcephaly, Aqueductal stenos... ORPHA:1496
Mowat-Wilson Syndrome
Tooth malposition, Chorioretinal coloboma, Ectopia pupillae, Supernumerary nipple, Cryptorchidism... OMIM:235730
Alg8-Cdg
Cataract, Ventriculomegaly, Optic atrophy, Failure to thrive, Intrauterine growth retardation, Re... ORPHA:79325
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... OMIM:620315
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Hepatosplenomegaly, Micrognathia, Cryptorchidism, Agenesis of corpus callos... OMIM:614866
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation, Macrocephaly OMIM:607091
Bcard Syndrome
Platyspondyly, Cataract, Abnormality of the dentition, Osteopenia, Ventriculomegaly, Downturned c... OMIM:612394
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Mosaic Variegated Aneuploidy Syndrome
Cataract, Ventriculomegaly, Growth delay, Downslanted palpebral fissures, Vaginal neoplasm, Intra... ORPHA:1052
Jacobsen Syndrome
Cryptorchidism, Agenesis of corpus callosum, Epicanthus, Short neck, Iris coloboma, Hip dislocati... ORPHA:2308
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Wrist swelling, Carpal osteolysis, Metacar... OMIM:166300
Diabetic Embryopathy
Spinal dysraphism, Abnormal morphology of female internal genitalia, Micrognathia, Cryptorchidism... ORPHA:1926
Aicardi-Goutieres Syndrome 6
Intrauterine growth retardation, Splenomegaly, Microcephaly, Increased CSF interferon alpha, Thro... OMIM:615010
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Secondary microcephaly, Micrognathia, Streak ovary, Cryptorchidism, Agenesi... OMIM:618820
Simpson-Golabi-Behmel Syndrome
Supernumerary nipple, Cryptorchidism, Agenesis of corpus callosum, Epicanthus, Short neck, Hyposp... ORPHA:373
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Abnormal nerve conduction velocity, Limitation of joint mobility, ... ORPHA:93476
Deeah Syndrome
Extra-axial cerebrospinal fluid accumulation, Narrow mouth, Cryptorchidism, Death in childhood, D... OMIM:619004
Braddock-Carey Syndrome 1
Downslanted palpebral fissures, Telecanthus, Agenesis of corpus callosum, Microcephaly, Camptodac... OMIM:619980
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Hypoplasia of the maxilla, Sparse eyebrow, Hamartoma of the orbital region, Bilateral m... ORPHA:2399
Desmosterolosis
Micrognathia, Narrow mouth, Agenesis of corpus callosum, Epicanthus, Patent ductus arteriosus, Do... ORPHA:35107
Kapur-Toriello Syndrome
Failure to thrive, Retinal coloboma, Dysplastic corpus callosum, Orofacial cleft, Hypoplastic lab... ORPHA:2328
Wilson Disease
Failure to thrive, Kayser-Fleischer ring, Abnormality of the menstrual cycle, Pathologic fracture... ORPHA:905
Frontofacionasal Dysplasia
Cataract, Microcornea, Telecanthus, Limbal dermoid, Absent inner eyelashes, Encephalocele, Upper ... ORPHA:1791
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Frontal encephalocele, Microphthalmia, Craniosynostosis, Optic nerve... OMIM:218670
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Supernumerary nipple, Micrognathia, Submucous cleft hard palate, Joint hype... OMIM:619122
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Abnormality of the uterus, Intrauterine growth retardation, ... ORPHA:2470
Congenital Fibrosis Of Extraocular Muscles
Cataract, Congenital fibrosis of extraocular muscles, Abnormal pupil shape, Hypogonadotropic hypo... ORPHA:45358
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Joint stiffness, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, C... ORPHA:90654
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Short palpebral fissure, Pigmentary retinopathy, Downturned corners of mouth, Downslant... OMIM:614230
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Growth delay, Downturned corners of mouth, Long philtrum, Downslanted palpebral fissures, Intraut... OMIM:617333
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Ciliary Dyskinesia, Primary, 40
Azoospermia, Chronic sinusitis, Infertility, Patent ductus arteriosus, Absent outer dynein arms OMIM:618300
Otopalatodigital Syndrome Type 1
Limitation of joint mobility, Elbow dislocation, Synostosis of carpal bones, Downslanted palpebra... ORPHA:90650
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Long philtrum, Micrognathia, Acetabular dysplasia, Thin upper lip vermilion, Microcephaly, Short ... OMIM:616549
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Thrombocytopenia OMIM:189800
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Intrauterine growth retardation, Micrognathia, Increased susceptibility to fra... OMIM:253290
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Long philtrum, Intrauterine growth retardation, Cryptorchidism, Death in infan... OMIM:608104
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Abnormal morphology of female internal genitalia, Abnormal... ORPHA:1834
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A... ORPHA:54
Kapur-Toriello Syndrome
Cataract, Joint contracture of the hand, Cleft upper lip, Camptodactyly of finger, Retinal colobo... OMIM:244300
Chops Syndrome
High, narrow palate, Cataract, Optic atrophy, Downturned corners of mouth, Long philtrum, Tracheo... OMIM:616368
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Cat-Eye Syndrome
Chorioretinal coloboma, Downslanted palpebral fissures, Intrauterine growth retardation, Micropht... ORPHA:195
Squalene Synthase Deficiency
Retrognathia, Bilateral cryptorchidism, Elbow flexion contracture, Failure to thrive in infancy, ... OMIM:618156
Microphthalmia, Syndromic 16
Sclerocornea, Ankyloblepharon, Anophthalmia, Microphthalmia OMIM:611038
Monosomy 18P
Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, Kyphoscoliosis, Micr... ORPHA:1598
Ritscher-Schinzel Syndrome 3
Highly arched eyebrow, Chorioretinal coloboma, Downslanted palpebral fissures, Postnatal growth r... OMIM:619135
7Q11.23 Microduplication Syndrome
Micrognathia, Short lingual frenulum, Cryptorchidism, Abnormal optic disc morphology, Short neck,... ORPHA:96121
Thanatophoric Dysplasia
Platyspondyly, Ventriculomegaly, Kyphosis, Disproportionate short-limb short stature, Downslanted... ORPHA:2655
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... OMIM:271630
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Ventriculomegaly, Small for gestational age, Kyphosis, Failure to thri... ORPHA:464311
Desmosterolosis
Joint contracture of the hand, Ventriculomegaly, Rhizomelia, Failure to thrive, Downslanted palpe... OMIM:602398
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoraci... OMIM:613702
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Vertebral segmentation d... OMIM:613686
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Delayed skeletal maturation, Hypogonadism, Decrea... OMIM:229070
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic atrophy, Optic disc hypoplasia, Delayed skeletal maturation, Upslanted palpebr... ORPHA:401777
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Epicanthus, Posterior embryotoxon, Sho... ORPHA:567
Fanconi Anemia, Complementation Group P
Short palpebral fissure, Growth delay, Pancytopenia, Micrognathia, Cryptorchidism, Microcephaly, ... OMIM:613951
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Downturned corners of mouth, Bilateral cryptorchidism, Secondary microcephaly, Sm... OMIM:618652
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Thoracic platyspondyly, Death in childhood, Increased intervertebral space,... OMIM:618961
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Retrognathia, Failure to thrive, Secondary microcephaly, Intrauterine growth retarda... OMIM:612938
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Cleft upper lip, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Cleft palate OMIM:120433
Noonan Syndrome 12
Ventriculomegaly, Decreased response to growth hormone stimulation test, Lymphopenia, Thrombocyto... OMIM:618624
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Retinal degeneration, Microphthalmia OMIM:251700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Retinal dysplasia, Hydrocephalus, Microphthalmia OMIM:614830
D-Glyceric Aciduria
Elevated CSF D-glyceric acid concentration, Failure to thrive, Hypoglycemia, Microcephaly, Microp... OMIM:220120
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Agenesis of corpus callosum, Hydrocephalus, Macrocephaly OMIM:307000
Lissencephaly 5
Cataract, Optic atrophy, Occipital encephalocele, Hydrocephalus, Macrocephaly OMIM:615191
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Aymé-Gripp Syndrome
Limitation of joint mobility, Megalocornea, Delayed cranial suture closure, Postnatal growth reta... ORPHA:1272
Stt3B-Cdg
Small scrotum, Optic atrophy, Failure to thrive, Intrauterine growth retardation, Cryptorchidism,... ORPHA:370924
Bardet-Biedl Syndrome 9
Irregular menstruation, Cataract, Hyperglycemia, Obesity, Attenuation of retinal blood vessels, A... OMIM:615986
Developmental And Epileptic Encephalopathy 1
Ventriculomegaly, Microcephaly, Microphthalmia, Micropenis, Growth delay OMIM:308350
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Sensory axonal neuropathy, Upper limb pain, Hydrocephalus, Flexion contracture, Sc... ORPHA:99947
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Peripheral demyelination, Splenomegaly, Re... OMIM:272200
Scalp-Ear-Nipple Syndrome
Cataract, Bifid uvula, Mandibular prognathia, Lateral ventricle dilatation, Breast aplasia, Agene... OMIM:181270
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Mandibular prognathia, Horizontal eyebrow, Downturned corners o... ORPHA:369891
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Ventriculomegaly, Chorioretinal coloboma, Downslanted palpebral fissures, Agenesis... OMIM:615219
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Ankyloblepharon, Micrognathia, Microphthalmia, Bilateral... OMIM:619339
Biemond Syndrome Ii
Short stature, Iris coloboma, Hydrocephalus OMIM:210350
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Downturned corners of mouth, Aniridia, Micrognathia, Telecanthus, Corneal opacity, Short stature,... ORPHA:1064
Tbck-Related Intellectual Disability Syndrome
High, narrow palate, Ventriculomegaly, Long philtrum, Delayed skeletal maturation, Decreased resp... ORPHA:488632
Keppen-Lubinsky Syndrome
Abnormally large globe, Lateral ventricle dilatation, Failure to thrive, Micrognathia, Open mouth... OMIM:614098
Septo-Optic Dysplasia Spectrum
Obesity, Cryptorchidism, Agenesis of corpus callosum, Maternal diabetes, Anterior pituitary hypop... ORPHA:3157
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Increased circulating prolactin concentration, Slender build, Narrow mouth, Cryptorc... ORPHA:3455
Crouzon Syndrome
Optic atrophy, Hypoplasia of the maxilla, Multiple suture craniosynostosis, Ptosis, Hydrocephalus... ORPHA:207
Wagro Syndrome
Cataract, Hypoplastic female external genitalia, Dental crowding, Downslanted palpebral fissures,... OMIM:612469
Congenital Syphilis
Cataract, Optic atrophy, Keratitis, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hyp... ORPHA:499009
Livedoid Vasculopathy
Polycythemia, Pancytopenia, Lower limb pain, Leukocytosis, Abnormality of the peripheral nervous ... ORPHA:542643
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Insulin insensitivity, Male... ORPHA:90797
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Microcephaly, Broad eyebrow, Hydrocephalus, Narrow palpebral fissure, ... OMIM:618302
Galloway-Mowat Syndrome
Abnormality of the dentition, Camptodactyly of finger, Intrauterine growth retardation, Micrognat... ORPHA:2065
Norrie Disease
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... OMIM:310600
Moebius Syndrome
Bifid uvula, Abnormality of the dentition, Congenital fibrosis of extraocular muscles, Decreased ... OMIM:157900
Houge-Janssens Syndrome 1
Congenital hip dislocation, Ventriculomegaly, Hypoglycemia, Downslanted palpebral fissures, Intra... OMIM:616355
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Obesity, Micrognathia, Type II diabetes mellitus, Microdontia, Epican... ORPHA:3191
Incontinentia Pigmenti
Supernumerary nipple, Hypoplasia of the fovea, Retinal detachment, Microphthalmia, Cataract, Brea... OMIM:308300
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Highly arched eyebrow, Everted upper lip vermilion, Supernumerary nipple, Camptodactyly of finger... OMIM:619951
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Insulin-resista... OMIM:262190
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Flexio... OMIM:618469
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Supernumerary nipple, Joint contracture of the 5th finger, Epicanthus, Microphthalmia, Sparse eye... OMIM:620098
Branchiooculofacial Syndrome
Supernumerary nipple, Postnatal growth retardation, Micrognathia, Cryptorchidism, Anophthalmia, S... OMIM:113620
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Ventriculomegaly, Cleft upper lip, Congenital adrenal hyperplasia, Intraute... ORPHA:96181
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Anisospondyly, Limitation of joint mobility, Pterygium, Micrognathia, Narro... ORPHA:1865
Alg12-Cdg
Abnormal peripheral nervous system morphology, Recurrent hypoglycemia, Micrognathia, Cryptorchidi... ORPHA:79324
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Epiphyseal stippling, Neonatal death OMIM:614870
Spondylocarpotarsal Synostosis Syndrome
Cataract, Block vertebrae, Hypoplasia of the odontoid process, Failure of eruption of permanent t... OMIM:272460
Leukocyte Adhesion Deficiency
Impaired neutrophil chemotaxis, Acute myeloid leukemia, Nasolacrimal sac granuloma, Coronal crani... ORPHA:2968
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Polyarticular arthritis, Lymphopenia, Oral ulcer, Thrombocytopenia, Hemolytic ane... OMIM:616744
Joubert Syndrome With Ocular Defect
Abnormal vertebral morphology, Highly arched eyebrow, Retinal coloboma, Encephalocele, Agenesis o... ORPHA:220493
Tenorio Syndrome
Osteopenia, Mandibular prognathia, Ventriculomegaly, Hypoglycemia, Delayed cranial suture closure... OMIM:616260
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Griscelli Syndrome
Iris hypopigmentation, Bone marrow hypocellularity, Abnormal eyebrow morphology, Leukopenia, Sple... ORPHA:381
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Joubert Syndrome 37
Decreased testicular size, Lumbar hyperlordosis, Obesity, Cryptorchidism, Joint hypermobility, Pt... OMIM:619185
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Micrognathia, Cryptorchidism, Epicanthus, Blepharophimosis, Microphthalmia, High palate, Hypospad... OMIM:616975
Monosomy 18Q
Slender build, Open mouth, Epicanthus, High palate, Biparietal narrowing, Patent ductus arteriosu... ORPHA:1600
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Ankle clonus ORPHA:363654
Trisomy 18
Narrow mouth, Cryptorchidism, Epicanthus, Cachexia, Blepharophimosis, Microphthalmia, Holoprosenc... ORPHA:3380
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Myelomeningocele, Short neck, Cleft palate, Abnorm... ORPHA:66637
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Failure to thrive, Unilateral microphthalmos, Splenomegaly, Osteopetrosis, Thrombo... OMIM:615085
Dyskeratosis Congenita
Carious teeth, Periodontitis, Displacement of the urethral meatus, Cataract, Hypoplasia of the ma... ORPHA:1775
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Optic atrophy, ... OMIM:123500
Mevalonic Aciduria
Cataract, Nuclear cataract, Fluctuating splenomegaly, Failure to thrive, Downslanted palpebral fi... OMIM:610377
Mucopolysaccharidosis, Type Vi
Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Disproportionate short-trunk shor... OMIM:253200
Specific Granule Deficiency 2
Tooth malposition, Conical tooth, Osteopenia, Failure to thrive, Death in childhood, Death in inf... OMIM:617475
Cornelia De Lange Syndrome 1
Micrognathia, Cryptorchidism, Hypoplastic labia majora, Short neck, Dislocated radial head, High ... OMIM:122470
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Sparse eyebrow, Optic nerve hypoplasia, Tented philtrum, Long philtrum, Long eyelashes, Micrognat... ORPHA:495875
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Optic atrophy, Secondary microcephaly, Hydrocephalus, Macrocephaly, Short stature OMIM:618174
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Kyphosis, Hypoplasia of the iris, Megalocornea, Downslanted palpebral fissures, Micro... ORPHA:2479
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Hepatosplenomegaly, Micrognathia, Patellar aplasia, Carpal bone hypoplasia, Pa... OMIM:274000
3Q29 Microduplication Syndrome
Cataract, Abnormality of the dentition, Downslanted palpebral fissures, Aniridia, Obesity, Microp... ORPHA:251038
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Increased mean corpuscular volume, Failure to thrive, Postnatal growth retardat... ORPHA:2169
Cockayne Syndrome
Lentiglobus, Carious teeth, Postnatal growth retardation, Cryptorchidism, Delayed eruption of pri... ORPHA:191
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Failure to thrive in infancy, Genu valgum, Dyspla... ORPHA:488627
Mosaic Trisomy 8
Limitation of joint mobility, Arthrogryposis multiplex congenita, Camptodactyly of finger, Decrea... ORPHA:96061
Xeroderma Pigmentosum, Complementation Group B
Cataract, Ventriculomegaly, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Decreased nerve ... OMIM:610651
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... OMIM:221900
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Cataract, Kyphosis, Abnormal form of the vertebral bodies, Bilateral cryptorchidism, Hypogonadism... ORPHA:3042
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Patchy osteosclerosis, Ventriculomegaly, Long philtrum, Delayed skeletal maturation,... OMIM:241410
Microcephaly 20, Primary, Autosomal Recessive
Intrauterine growth retardation, Agenesis of corpus callosum, Microcephaly, Microphthalmia, Vagin... OMIM:617914
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Cleft lip, Microretrognathia, Downturned corners of mouth, Long philtrum, Horizontal ey... OMIM:618571
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Megalocornea, Micrognathia, Cryptorchidism, Agenesis of corpus cal... ORPHA:280
Ophthalmomandibulomelic Dysplasia
Limitation of joint mobility, Elbow dislocation, Synostosis of carpal bones, Megalocornea, Tempor... ORPHA:2741
Osteogenesis Imperfecta
Carious teeth, Enlarged vertebral pedicles, Micrognathia, Genu valgum, Decreased skull ossificati... ORPHA:666
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Highly arched eyebrow, Supernumerary nipple, Delayed cranial suture closure, Obesity, Cryptorchid... OMIM:618653
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Delayed skeletal maturation, Decreased testicular size, Azoospermia, Cryptorchidism, ... OMIM:614837
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Microcephaly, Growth delay, Polycythemia, Methemoglobinemia OMIM:250800
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Abnormality of the dentition, Osteopenia, Rhizomelia, Growth delay, Hypoplastic sacrum, Long phil... OMIM:614813
Persistent Hyperplastic Primary Vitreous
Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pu... ORPHA:91495
Spermatogenic Failure 14
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615842
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Microcornea, Long philtrum, Micrognathia, Abnormal scrotum morphology, Cryptorchid... ORPHA:2505
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Supernumerary nipple, Open bite, O... ORPHA:453504
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Clitoral hypertrophy, Failure to thrive, Abnormal labia majora morphology, Congenital adrenal hyp... ORPHA:90791
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Ventriculomegaly, Disproportionate short-limb short stature, Lateral ventr... OMIM:619479
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Supernumerary nipple, Open bite, O... ORPHA:352665
Dyrk1A-Related Intellectual Disability Syndrome
Ventriculomegaly, Small for gestational age, Kyphosis, Failure to thrive, Breast hypoplasia, Intr... ORPHA:464306
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Block vertebrae, Supernumerary vertebrae, Aplasia of the vagina, Aplas... OMIM:271520
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Obesity, Genu valgum, Glucose intolerance, Splenomegaly, Retinal degeneration, ... OMIM:615630
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Synostosis of carpal bones, Delayed... OMIM:101200
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Cryptorchidism, Eyelid coloboma, Agenesis of corpus callosum, Hydrocephal... OMIM:613001
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Long philtrum, Downslanted palpebral fissures, Micrognathia, Thick eyebrow, Oligodonti... OMIM:602562
Wildervanck Syndrome
Pseudopapilledema, Short neck, Lens subluxation, Meningocele, Facial palsy, Fused cervical vertebrae ORPHA:3456
Robinow Syndrome
Tooth malposition, Small scrotum, Ankyloglossia, Marked delay in eruption of permanent teeth, Mic... ORPHA:97360
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Long philtrum, Agenesis of corpus callosum, Microcephaly, Microphthalmia, ... OMIM:300887
Warburg Micro Syndrome 2
Cataract, Microcornea, Small scrotum, Optic atrophy, Secondary microcephaly, Postnatal growth ret... OMIM:614225
Peters Plus Syndrome
Postnatal growth retardation, Micrognathia, Cryptorchidism, Short neck, Hypoplasia of the uterus,... ORPHA:709
Pelger-Huet Anomaly
Abnormality of the dentition, Giant platelets, Failure to thrive, Gingival overgrowth, Median cle... OMIM:169400
Spondylocostal Dysostosis 5
Severe short stature, Butterfly vertebrae, Low back pain, Supernumerary ribs, Short neck, Disprop... OMIM:122600
Niemann-Pick Disease, Type B
Abnormal macular morphology, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone... OMIM:607616
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, Ventriculomegaly, Congenital contracture, Retrognathia, Long philtrum, Micro... OMIM:620156
Alpha-Mannosidosis, Infantile Form
Abnormality of the sphenoid sinus, Hepatosplenomegaly, Pancytopenia, Genu valgum, Short neck, Opt... ORPHA:309282
Transaldolase Deficiency
Clitoral hypertrophy, Small for gestational age, Failure to thrive, Hepatosplenomegaly, Pancytope... OMIM:606003
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Oculoauricular Syndrome
Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Cone/cone-rod dystrophy, Pos... OMIM:612109
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Hypoplasia of the maxilla, Microcornea, Telecanthus, Cryptorchidism, Microdontia, Hy... OMIM:601499
Microphthalmia, Isolated 8
Short palpebral fissure, Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthal... OMIM:615113
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Macular edema, Polycythemia, Limb pain, Back pain, Hypertensive ret... ORPHA:892
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, Decreased testicular... OMIM:618086
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Ocular anterior segment dysgenesis, Microphthalmia, Short stature, Iris coloboma OMIM:610023
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Knee dislocation, Shoulder dislocation, Thin eyebrow, Bilateral ptosis, Micrognathia,... OMIM:618000
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Lateral ventricle dilatation, Obesity, Retinal degeneration, Peripheral axo... ORPHA:2822
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Micrognathia, Microphthalmia, Decreased body weight, Osteopetrosis, Shallo... OMIM:617306
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Epicanthus, Short neck,... OMIM:616734
Mucopolysaccharidosis-Plus Syndrome
Chorioretinal hypopigmentation, Bone marrow hypocellularity, Optic atrophy, Leukopenia, Long eyel... OMIM:617303
Microphthalmia, Isolated 6
Retinal fold, Microcornea, Microphthalmia OMIM:613517
Farber Disease
Macular degeneration, Failure to thrive, Cherry red spot of the macula, Hepatosplenomegaly, Abnor... ORPHA:333
Histiocytoid Cardiomyopathy
Optic atrophy, Failure to thrive, Hypoglycemia, Megalocornea, Agenesis of corpus callosum, Polycy... ORPHA:137675
Thanatophoric Dysplasia Type 2
Platyspondyly, Ventriculomegaly, Limitation of joint mobility, Kyphosis, Encephalocele, Joint hyp... ORPHA:93274
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Hydrocephalus, Joint hypermobility, Kyphoscoliosis OMIM:236660
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Meckel Syndrome, Type 1
Natal tooth, Occipital encephalocele, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, ... OMIM:249000
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Genu valgum, Rod-cone dystrophy, Cataract, Avascular necrosis of the c... ORPHA:581
Alexander Disease Type I
Failure to thrive, Progressive macrocephaly, Cachexia, Hydrocephalus, Scoliosis, Abnormal thalami... ORPHA:363717
Phacoanaphylactic Uveitis
Posterior synechiae of the anterior chamber, Corneal keratic precipitates, Pseudophakia, Abnormal... ORPHA:209959
Houge-Janssens Syndrome 2
Ventriculomegaly, Downslanted palpebral fissures, Tented upper lip vermilion, Open mouth, Agenesi... OMIM:616362
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Agenesis of corpus callos... OMIM:312870
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Delayed cranial suture closure, Cryptorchidism, Agenesis of corpus ... ORPHA:2658
Hereditary Bullous Dystrophy, Macular Type
Cataract, Decreased testicular size, External genital hypoplasia, Cryptorchidism, Microcephaly, C... ORPHA:1867
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation, Vesicovaginal fistula, Intrauterine growth retardation, Thick eyebr... OMIM:300896
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl... OMIM:177650
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Hepatosplenomegaly, Azoospermia, Reticulocytopenia, Dysplastic erythropoesis, Aniso... ORPHA:300298
Frontometaphyseal Dysplasia 1
Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited elbow movement, Absent frontal... OMIM:305620
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Cataract, Intrauterine growth retardation, Joint hypermobility, Microcephaly... ORPHA:2714
Halperin-Birk Syndrome
Optic atrophy, Ventriculomegaly, Semilobar holoprosencephaly, Failure to thrive, Long eyelashes, ... OMIM:618651
Spondyloenchondrodysplasia
Platyspondyly, Ventriculomegaly, Dental malocclusion, Delayed eruption of teeth, Granuloma, Decre... ORPHA:1855
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Osteopenia, Microretrognathia, Coronal cr... OMIM:616294
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage, Optic atrophy, Ventriculomegaly, Severe ... OMIM:610965
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Irregular menstruation, Platyspondyly, Rhizomelia, Disproportionate short stature, Brain abscess,... OMIM:616482
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Hyperglycemia, Intrauterine growth retar... ORPHA:99886
Braddock-Carey Syndrome 2
Retrognathia, Downslanted palpebral fissures, Microcephaly, Thrombocytopenia, Microphthalmia, Wid... OMIM:619981
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Ventriculomegaly, Optic atrophy, Craniofacial osteoscler... OMIM:618476
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Obesity, Malar flatteni... ORPHA:2180
Neurofibromatosis Type 1
Chorioretinal coloboma, Genu valgum, Cryptorchidism, Leukemia, Genu varum, Precocious puberty, Ca... ORPHA:636
Mucopolysaccharidosis, Type Ii
Severe short stature, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, ... OMIM:309900
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Malar flattening... ORPHA:93262
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Ptosis, Thrombocytopenia, Anemia, Bone pain OMIM:610539
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Kyphoscoliosis, Macrocephaly OMIM:300886
Fetal Alcohol Syndrome
Joint stiffness, Micrognathia, Telecanthus, Intrauterine growth retardation, Microdontia, Thin up... ORPHA:1915
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Micrognathia, Narrow mouth, Genu valgum, Radioulnar synostosis, Short neck, Dislocated radial hea... OMIM:245600
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Secondary microcephaly, Flexion contracture, Scoliosis, Lateral ventricle dilatation ORPHA:2148
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Short palpebral fissure, Extra-axial cerebrospinal fluid accumulation, Den... OMIM:619005
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly, Hemivertebrae... OMIM:619318
Hartsfield Syndrome
Downslanted palpebral fissures, Telecanthus, Intrauterine growth retardation, Encephalocele, Ptos... ORPHA:2117
Frontorhiny
Cataract, Hypoplasia of the maxilla, Cranium bifidum occultum, Camptodactyly of finger, Hypopitui... ORPHA:391474
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Delayed skeletal maturation, Micrognathia, Cryptorchidism, Thrombocytopenia, N... OMIM:614857
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia, Menorrhagia OMIM:616176
Peroxisome Biogenesis Disorder 1A (Zellweger)
Clitoral hypertrophy, Micrognathia, Protruding tongue, Cryptorchidism, Death in childhood, Epican... OMIM:214100
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, Tooth agenesis, Breast aplasia, Micrognathia, Open mouth, Death... ORPHA:570
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Micrognathia, Narr... OMIM:218600
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Malar flattening, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, S... OMIM:218350
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Ventriculomegaly, Hypoglycemia, Long philtrum, Intrauterine growth retardation, Th... OMIM:617710
Genitopalatocardiac Syndrome
Kyphosis, Downturned corners of mouth, Downslanted palpebral fissures, Intrauterine growth retard... ORPHA:2075
Williams Syndrome
Synostosis of joints, Carious teeth, Megalocornea, Open bite, Micrognathia, Genu valgum, Cryptorc... ORPHA:904
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Type II diabetes mellitus, Short stature, Abnormal sacrum morphology, Sco... ORPHA:1436
Galloway-Mowat Syndrome 1
Cataract, Joint contracture of the hand, Ventriculomegaly, Optic atrophy, Hypoplasia of the iris,... OMIM:251300
3-Methylglutaconic Aciduria, Type Viib
Cataract, Rhizomelia, Increased CSF lactate, Leukopenia, Micrognathia, Intrauterine growth retard... OMIM:616271
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Sparse eyebrow, Failure to thrive, Ankyloglossia, Unilateral microphthalmos, Malar f... OMIM:618874
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Joint stiffness, Cryptorchidism, Hypoplastic vertebral bodies, ... ORPHA:3027
Fraser Syndrome
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Anophtha... ORPHA:2052
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Cleft upper lip, Bilateral microphthalmos, Telecanthus, Eyelid coloboma, Joi... OMIM:607597
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Bornholm Eye Disease
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia OMIM:300843
Cerebral Visual Impairment
Optic atrophy, Microcephaly, Increased cup-to-disc ratio, Hydrocephalus, Retinopathy of prematuri... ORPHA:447788
Cardiofaciocutaneous Syndrome 1
Palpebral thickening, Open bite, Micrognathia, Open mouth, Absent eyelashes, Epicanthus, Short ne... OMIM:115150
Congenital Varicella Syndrome
Cataract, Intrauterine growth retardation, Microcephaly, Microphthalmia ORPHA:291
Bardet-Biedl Syndrome 1
Rod-cone dystrophy, High palate, Retinal dystrophy, High, narrow palate, Cataract, Decreased test... OMIM:209900
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Retrognathia, Hypogonadism, Death in infancy, Triangular mouth, Microcepha... OMIM:601675
Craniopharyngioma
Optic atrophy, Growth delay, Increased circulating prolactin concentration, Hypogonadism, Hypopit... ORPHA:54595
Christian Syndrome
Thoracic hemivertebrae, Glucose intolerance, Prominent metopic ridge, Short stature, Scoliosis, F... OMIM:309620
Peters-Plus Syndrome
Postnatal growth retardation, Micrognathia, Short lingual frenulum, Cryptorchidism, Agenesis of c... OMIM:261540
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hypoplasia of the zygomatic bone, Retrognathia, Supernumerary nipple, Abnormal ... ORPHA:1812
Myotonic Dystrophy 2
Posterior subcapsular cataract, Insulin insensitivity, Hypogonadism, Type II diabetes mellitus, E... OMIM:602668
Kaufman Oculocerebrofacial Syndrome
Clitoral hypertrophy, Carious teeth, Micrognathia, Narrow mouth, Epicanthus, Hypoplastic labia ma... OMIM:244450
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Seckel Syndrome 2
Microglossia, Growth delay, Micrognathia, Microdontia, Microcephaly, Primary microcephaly, Microp... OMIM:606744
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Short palpebral fissure, Long philtrum, Micrognathia, Narrow mouth, Upslanted palpeb... OMIM:156610
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Microglossia, Lateral ventricle dilatation, Hamartoma of tongue, Median cleft uppe... OMIM:263520
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Growth delay, Hypoglycemia, Delayed cranial suture closure, Hypopitu... ORPHA:226307
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Azoospermia, Elevated circulating follicle stimul... OMIM:301077
21Q22.11Q22.12 Microdeletion Syndrome
Short palpebral fissure, Dental crowding, Downturned corners of mouth, Delayed skeletal maturatio... ORPHA:261323
Elsahy-Waters Syndrome
Megalocornea, High palate, Increased cup-to-disc ratio, Hypospadias, Cataract, Hypoplasia of the ... OMIM:211380
Alstrom Syndrome
Irregular menstruation, Abnormality of the dentition, Pigmentary retinopathy, Insulin-resistant d... OMIM:203800
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Dermatochalasis, Osteopenia, Reduced natural killer cell count, Ventriculomegaly, Palpebral edema... ORPHA:221139
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Hip contracture, Protrusio acetabuli, Osteopenia, Hypoplasia of the maxilla, Ankle ... OMIM:259600
Folate Malabsorption, Hereditary
Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Oral ulcer, Neutropenia, T... OMIM:229050
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Abnormality of the male genitalia, Prominence of the premaxilla, Decreased body w... OMIM:614886
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Ventriculomegaly, Optic nerve hypoplasia, Open mouth, Aplasia of the vagina, Agenesis of corpus c... ORPHA:457284
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Ptosis, Posterior fusion of lumbosacral v... ORPHA:2064
Greig Cephalopolysyndactyly Syndrome
Telecanthus, Agenesis of corpus callosum, Accelerated skeletal maturation, Hydrocephalus, Macroce... ORPHA:380
Joubert Syndrome 14
Highly arched eyebrow, Optic atrophy, Downslanted palpebral fissures, Morning glory anomaly, Tent... OMIM:614424
Chromosome 17P13.1 Deletion Syndrome
Epicanthus, Short neck, Everted lower lip vermilion, Narrow palpebral fissure, High palate, High,... OMIM:613776
Meningioma
Secondary growth hormone deficiency, Neurofibroma, Pituitary hypothyroidism, Increased circulatin... ORPHA:2495
Mend Syndrome
Asymmetry of the mouth, Cataract, Abnormal auditory evoked potentials, Failure to thrive, Sacral ... ORPHA:401973
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Ventriculomegaly, Carious teeth, Dental malocclusion, Velopharyngea... ORPHA:363444
Manitoba Oculotrichoanal Syndrome
Cryptophthalmos, Microphthalmia, Eyelid coloboma, Anophthalmia, Nasolacrimal duct obstruction, Va... OMIM:248450
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Fanconi Anemia, Complementation Group N
Aplastic anemia, Postnatal growth retardation, Microcephaly, Short neck, Acute myeloid leukemia, ... OMIM:610832
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Facial paralysis, Hypopigmentation of the fundus, Hypoplasia of the iris, Ectopia pu... OMIM:175780
Krabbe Disease
Optic atrophy, Increased CSF protein concentration, Failure to thrive, Decreased nerve conduction... OMIM:245200
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Hyperplasia of the maxilla, Postnatal growth retardation, Micrognathia, Enl... OMIM:268300
Satoyoshi Syndrome
Abnormality of the uterus, Abnormal joint morphology, Abnormality of the ovary, Abnormality of th... ORPHA:3130
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy, Microphthalmia, Shallow ante... OMIM:267760
Pseudotrisomy 13 Syndrome
Cleft upper lip, Median cleft palate, Cryptorchidism, Upslanted palpebral fissure, Agenesis of co... OMIM:264480
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Thrombocytopenia-Absent Radius Syndrome
Cervical ribs, Micrognathia, Aplasia/Hypoplasia of the patella, Aplasia of the uterus, Thrombocyt... ORPHA:3320
Joubert Syndrome With Renal Defect
Highly arched eyebrow, Encephalocele, Agenesis of corpus callosum, Aganglionic megacolon, Orofaci... ORPHA:220497
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia, Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Jo... OMIM:609069
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased CSF protein concentration, Reduced natural killer cell count, Hemophagocytosis, Hepatos... ORPHA:158057
Spermatogenic Failure 13
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615841
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia, Abnormality of the gingiva ORPHA:517
Mucopolysaccharidosis, Type Iva
Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Short neck, Disproportionate shor... OMIM:253000
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Congenital hip dislocation, Failure to thrive, Long philtrum, Downslanted palpebral f... OMIM:612940
Optic Pathway Glioma
Precocious puberty, Optic atrophy, Neurofibroma, Papilledema, Hydrocephalus, Growth delay ORPHA:2086
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Megaloblastic anemia, Thrombocytopenia, Short stature, Diabetes mellitus, Retinal ... ORPHA:49827
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Rhizomelia, Intrauterine growth retardation, Micrognathia, Death in infancy, Hydro... ORPHA:163966
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic acetabulae, Optic disc coloboma, Lumbar hyperlordosis, Mi... OMIM:169550
3Mc Syndrome 3
Highly arched eyebrow, Growth delay, Bifid scrotum, Cleft upper lip, Sacral dimple, Cryptorchidis... OMIM:248340
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Microcornea, Short palpebral fissure, Limitation of joint mobility, Interphalang... OMIM:151200
Mosaic Trisomy 20
Craniofacial asymmetry, Cleft lip, Retrognathia, Spinal canal stenosis, Intrauterine growth retar... ORPHA:1724
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele, Patent ductus arteriosus, Cryptorchidism ORPHA:261102
Ritscher-Schinzel Syndrome 1
Downslanted palpebral fissures, Decreased response to growth hormone stimulation test, Intrauteri... OMIM:220210
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased testicular size, Azoospermia, Eunuchoid habitus, Cryptorchidism, Hypogon... OMIM:308700
Mend Syndrome
Cataract, Microretrognathia, Failure to thrive, Micrognathia, Cryptorchidism, Upslanted palpebral... OMIM:300960
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat... ORPHA:263479
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Dislocated radial head, Microcephaly, Aganglionic megacolon, Hydrocephalus, Hig... OMIM:304100
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Optic disc pallor, O... OMIM:611490
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Axenfeld-Rieger Syndrome, Type 1
Microcornea, Abnormally prominent line of Schwalbe, Hypoplasia of the maxilla, Ectopia pupillae, ... OMIM:180500
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Abnormal form of the vertebral bodies, Aplasia of the ovary, Endometriosis, Verteb... ORPHA:3109
Mucolipidosis Type Iii Alpha/Beta
Postnatal growth retardation, Joint stiffness, Gingival overgrowth, Kyphoscoliosis, Epicanthus, S... ORPHA:423461
Gaucher Disease
Gingival bleeding, Cherry red spot of the macula, Pancytopenia, Osteopenia, Cholelithiasis, Joint... ORPHA:355
Xk Aprosencephaly Syndrome
Microcephaly, Narrow mouth, Abnormal external genitalia, Microphthalmia ORPHA:3469
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Malar flat... OMIM:602482
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Oral ulcer, Optic neuritis, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
6P22 Microdeletion Syndrome
Abnormal palate morphology, Epicanthus, Short neck, Hydrocephalus, Patent ductus arteriosus ORPHA:251046
Revesz Syndrome
Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Megalocornea, Intrauterine growth... OMIM:268130
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Epicanthus, Short neck, Patent ductus arteriosus, Long eyelashes, Lumbar kyph... ORPHA:505248
Hurler-Scheie Syndrome
Growth delay, Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fin... OMIM:607015
Hermansky-Pudlak Syndrome 5
Ocular albinism, Impaired ADP-induced platelet aggregation, Metrorrhagia, Hypoplasia of the fovea... OMIM:614074
Cardiofaciocutaneous Syndrome
Genu valgum, Cryptorchidism, Epicanthus, Short neck, High palate, Biparietal narrowing, Downslant... ORPHA:1340
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism... OMIM:300200
Cutis Marmorata Telangiectatica Congenita
Intrauterine growth retardation, Micrognathia, Reduced bone mineral density, Displacement of the ... ORPHA:1556
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Delayed skeleta... OMIM:246200
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Cataract, Severe B lymphocytopenia, Delayed cranial suture closure, Lymphopenia... OMIM:620005
Intellectual Developmental Disorder, X-Linked 30
Thick upper lip vermilion, Open mouth, Upslanted palpebral fissure, Thin upper lip vermilion, Mic... OMIM:300558
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Conjunctivitis OMIM:603552
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Juvenile Sialidosis Type 2
Cataract, Optic atrophy, Abnormal form of the vertebral bodies, Cherry red spot of the macula, He... ORPHA:93399
Alkuraya-Kucinskas Syndrome
Cataract, Small scrotum, Ventriculomegaly, Micrognathia, Upslanted palpebral fissure, Camptodacty... OMIM:617822
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Rhizomelia, Macrocephaly, Intrauterine growth retardation, Decreased skull ossific... OMIM:300863
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Isolated Agammaglobulinemia
Failure to thrive, Abnormal lymphocyte morphology, Thrombocytopenia, Sinusitis, Anemia, Arthritis... ORPHA:229717
Orofaciodigital Syndrome Type 14
Microretrognathia, Dilated third ventricle, Lobulated tongue, Bilateral cryptorchidism, Hamartoma... ORPHA:434179
Joubert Syndrome 2
Enlarged fossa interpeduncularis, Failure to thrive, Chorioretinal coloboma, Optic disc coloboma,... OMIM:608091
Fetal Cytomegalovirus Syndrome
Optic atrophy, Ventriculomegaly, Intrauterine growth retardation, Retinal hemorrhage, Splenomegal... ORPHA:294
Thakker-Donnai Syndrome
Downturned corners of mouth, Intrauterine growth retardation, Narrow mouth, Upslanted palpebral f... ORPHA:1780
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Micrognathia, Agenesis of co... ORPHA:314585
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... OMIM:610017
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, Hypogonadotropic hypogonadism, Microphthalmia, High palate, Cleft palate ORPHA:1135
Neuhauser Syndrome
Genu recurvatum, Bifid uvula, Osteopenia, Long philtrum, Hypoplasia of the iris, Megalocornea, Do... OMIM:249310
Asparagine Synthetase Deficiency
Ventriculomegaly, Dilated third ventricle, Failure to thrive, Dilated fourth ventricle, Micrognat... OMIM:615574
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Everted lower lip vermilion, Micr... OMIM:608670
Ohdo Syndrome, X-Linked
Small scrotum, Micrognathia, Narrow mouth, Cryptorchidism, Decreased body weight, Epicanthus, Ble... OMIM:300895
Microgastria-Limb Reduction Defect Syndrome
Elbow dislocation, Failure to thrive, Abnormality of the spleen, Anophthalmia, Perineal fistula, ... ORPHA:2538
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Joint stiffness, Decreased libido, Splenomegaly, Joint swelling, Arthropathy, Hypo... ORPHA:465508
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Postnatal growth retardation, Open mouth, Cryptorchidism, Agenesis of corpus callo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Postnatal growth retardation, Open mouth, Cryptorchidism, Agenesis of corpus callo... ORPHA:363958
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Semilobar holoprosencephaly, Thoracic hemivertebrae, Micrognathia, Medi... OMIM:301043
Septooptic Dysplasia
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Agenesis of corpus ... OMIM:182230
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Retrognathia, Chorioretinal coloboma, Micrognathia, Supernumerary ribs, Hydroce... ORPHA:163961
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Optic atrophy, Retinal dysplasia, Encephalocele, Agenesis of corpus callosum, Retinal d... OMIM:253800
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Osteopenia, Growth delay, Abnormal dental morphology, Hypophosphatemic ricket... OMIM:163200
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Carious teeth, Postnatal growth retardation, Micrognathia, Radioulnar s... ORPHA:536467
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Retinal coloboma, Epicanthus, Aganglionic megacolon, Facial pals... OMIM:607323
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Abnormally large globe, Knee flexion contracture, Thoracic scoliosis, Long palp... OMIM:603387
Holoprosencephaly 7
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Agenesis of corpus callosum, Bilateral cl... OMIM:610828
Malaria
Anemia, Retinopathy, Thrombocytopenia ORPHA:673
Pontocerebellar Hypoplasia, Type 7
Optic atrophy, Ventriculomegaly, Thick upper lip vermilion, Micrognathia, Cryptorchidism, Epicant... OMIM:614969
Beemer-Ertbruggen Syndrome
Micrognathia, Cryptorchidism, Ambiguous genitalia, Deep philtrum, Thrombocytopenia, Increased bon... ORPHA:1237
Tetrasomy 9P
Micrognathia, Absent gallbladder, Cryptorchidism, Epicanthus, Short neck, Oligozoospermia, High p... ORPHA:3310
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short palpebral fissure, Thin upper lip vermilion, Microcephaly, Cervical C2/C3 vertebral fusion,... ORPHA:370010
3P25.3 Microdeletion Syndrome
High, narrow palate, Downturned corners of mouth, Abnormal thalamus morphology, Downslanted palpe... ORPHA:435638
Beckwith-Wiedemann Syndrome
Polycythemia, Abnormal pancreas morphology, Hypoglycemia, Obesity, Wide mouth, Large for gestatio... ORPHA:116
Neurofibromatosis, Type I
Neurofibroma, Pheochromocytoma, Genu valgum, Plexiform neurofibroma, Lisch nodules, Hydrocephalus... OMIM:162200
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Ventriculomegaly, Failure to thrive, Decreased FOXP3-expressing T cell ... OMIM:304790
Marden-Walker Syndrome
Micrognathia, Narrow mouth, Agenesis of corpus callosum, Radioulnar synostosis, Blepharophimosis,... ORPHA:2461
Mucolipidosis Type Iv
Genu recurvatum, Retinopathy, Abnormality of retinal pigmentation, Microdontia, Microcephaly, Eve... ORPHA:578
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Menorrhagia, Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Pfeiffer Syndrome Type 2
Limitation of joint mobility, Tracheomalacia, Malar flattening, Hydrocephalus, Aqueductal stenosi... ORPHA:93259
Roberts Syndrome
Clitoral hypertrophy, Synostosis of carpal bones, Postnatal growth retardation, Micrognathia, Cry... ORPHA:3103
Myopathy, Centronuclear, X-Linked
Dental malocclusion, Macrocephaly, Cryptorchidism, Hydrocephalus, High palate, Flexion contractur... OMIM:310400
Fryns Syndrome
Joint contracture of the hand, Cryptorchidism, Agenesis of corpus callosum, Short neck, Blepharop... OMIM:229850
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Long philtrum, Open mouth, Cryptorchidism, Joint hypermobility, Thin upper l... OMIM:618494
Autosomal Recessive Cutis Laxa Type 2A
Congenital hip dislocation, Abnormal cornea morphology, Long philtrum, Delayed cranial suture clo... ORPHA:357058
Cernunnos-Xlf Deficiency
Lymphopenia, Microcephaly, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia, Growth... ORPHA:169079
Mucopolysaccharidosis Type 2
Limitation of joint mobility, Decreased nerve conduction velocity, Flexion contracture of digit, ... ORPHA:580
Shprintzen-Goldberg Craniosynostosis Syndrome
Joint contracture of the hand, Micrognathia, Genu valgum, Cryptorchidism, Dislocated radial head,... OMIM:182212
Holoprosencephaly 14
Ventriculomegaly, Cleft lip, Alobar holoprosencephaly, Median cleft upper lip, Microcephaly, Hydr... OMIM:619895
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Focal Dermal Hypoplasia
Abnormality of the dentition, Ectopia lentis, Chorioretinal coloboma, Hypoplasia of the iris, Ope... ORPHA:2092
Beare-Stevenson Cutis Gyrata Syndrome
Bifid uvula, Narrow palate, Ventriculomegaly, Natal tooth, Optic atrophy, Bifid scrotum, Downslan... OMIM:123790
Shwachman-Diamond Syndrome
Carious teeth, Aplastic anemia, Abnormal joint morphology, Hypopituitarism, Pancytopenia, Oral ul... ORPHA:811
Phace Syndrome
Retinal vascular malformation, Cataract, Optic nerve hypoplasia, Agenesis of corpus callosum, Het... ORPHA:42775
Nijmegen Breakage Syndrome
Acute leukemia, Abnormality of chromosome stability, Retrognathia, Autoimmune hemolytic anemia, U... ORPHA:647
Polycythemia Vera
Gingival bleeding, Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Weight loss, Thrombo... ORPHA:729
Neu-Laxova Syndrome 1
Joint contracture of the hand, Micrognathia, Cryptorchidism, Neonatal death, Agenesis of corpus c... OMIM:256520
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Radioulnar synostosis, Limited pronation/supination of forearm, Congenital th... OMIM:616738
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Cryptorchidism, Encephalocele, Microphthalmia, Flat acetabular roof, Patent ductus a... OMIM:616300
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Micrognathia, Cleft soft palate... ORPHA:124
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Failure to thrive, Azoospermia, Cryptorchidism, Ketoti... ORPHA:361
Faciodigitogenital Syndrome, Autosomal Recessive
Dental malocclusion, Downslanted palpebral fissures, Cryptorchidism, Proportionate short stature,... OMIM:227330
Bartsocas-Papas Syndrome 1
Micrognathia, Absent eyelashes, Hypoplastic labia majora, Short neck, Absent eyebrow, Blepharophi... OMIM:263650
Charcot-Marie-Tooth Disease Type 4C
Tongue atrophy, Optic atrophy, Facial paralysis, Failure to thrive, Abnormal optic nerve morpholo... ORPHA:99949
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Hyperglycemia, Micrognathia, High palate, Hypospadias, Patent duct... ORPHA:444077
Chilton-Okur-Chung Neurodevelopmental Syndrome
Ankyloglossia, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Mild fetal ventriculome... OMIM:619841
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neut... OMIM:615285
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Cryptorchidism, Death in infancy, D... ORPHA:95496
Microphthalmia/Coloboma 9
Microcornea, Long philtrum, Microphthalmia, Ptosis, Retinal detachment, Ocular anterior segment d... OMIM:615145
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Diffuse Neonatal Hemangiomatosis
Anemia, Abnormal vagina morphology, Patent ductus arteriosus, Thrombocytopenia ORPHA:2123
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Abnormality of the spleen, Pancytopenia, Splenomegaly, Death ... ORPHA:85212
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Vertebral fusion, Achilles tendon contracture, Macroglossia, Scoliosis, Kyphosis OMIM:607155
L1 Syndrome
Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus ORPHA:275543
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell ma... OMIM:263400
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae, Joint stiffness, Malar flattening, Mandibular prognathia ORPHA:1885
Immunodeficiency 114, Folate-Responsive
Carious teeth, Lymphopenia, Postnatal growth retardation, Lip fissure, Aphthous ulcer, Splenomega... OMIM:620603
Joubert Syndrome With Oculorenal Defect
Highly arched eyebrow, Iris coloboma, Chorioretinal coloboma, Encephalocele, Aganglionic megacolo... ORPHA:2318
Hutchinson-Gilford Progeria Syndrome
Limitation of joint mobility, Ankyloglossia, Limited hip movement, Micrognathia, Short lingual fr... ORPHA:740
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland, Ventriculomegaly, Band keratopathy, Hypoplasia of the iris, Hydrocephalus,... OMIM:614195
Congenital Myopathy 22A, Classic
Dental crowding, Downslanted palpebral fissures, Bilateral ptosis, Micrognathia, Open mouth, Knee... OMIM:620351
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Abnorma... OMIM:598500
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Optic atrophy, Failure to thrive, Microcytic anemia, Microphthalmia OMIM:612379
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Linear Nevus Sebaceus Syndrome
Genu recurvatum, Ventriculomegaly, Growth delay, Telecanthus, Vertebral segmentation defect, Bipa... ORPHA:2612
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Pterygium, Intrauterine growth retardation, Micrognathia, Agen... OMIM:225790
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Downturned corners of mouth, Bilateral ptosis, Hyperglycemia, Flexion c... OMIM:618856
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Medial flaring of the eyebrow, Retrognathia, Secondary microcephaly, Postnatal growth retardation... OMIM:620113
Yunis-Varon Syndrome
Clitoral hypertrophy, Broad secondary alveolar ridge, Postnatal growth retardation, Micrognathia,... ORPHA:3472
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Horizontal eyebrow, Long eyelashes, Wide mouth, Telecanthus, Prominent met... OMIM:620475
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Micrognathia, Cryptorchidism, Epicanthus, Short neck, Hypospadias,... OMIM:305450
Preeclampsia
Type I diabetes mellitus, Intrauterine growth retardation, Polycystic ovaries, Thrombocytopenia, ... ORPHA:275555
Carpenter Syndrome
Abnormal cornea morphology, Polysplenia, External genital hypoplasia, Genu valgum, Obesity, Crypt... ORPHA:65759
Curry-Jones Syndrome
Ventriculomegaly, Optic disc coloboma, Agenesis of corpus callosum, Microphthalmia, Craniosynosto... ORPHA:1553
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Microphthalmia OMIM:615297
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Ventriculomegaly, Optic nerve hypoplasia, Failure to thrive, Micrognathia, Narrow mouth, Upslante... OMIM:620455
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Severe short stature, Joint contracture of the hand, Neonatal short-limb short stature, Ectopia l... OMIM:224400
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Decreased nerve conduction velocity, Pancytopenia, Ankle clonus, T... OMIM:159550
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Cataract, Hypoplasia of the maxilla, Bone marrow hypocellularity, Failure to thrive, Micrognathia... OMIM:301108
Prader-Willi Syndrome
Small scrotum, Carious teeth, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Cryptorch... OMIM:176270
Microphthalmia, Syndromic 1
Tooth malposition, Joint contracture of the hand, Chorioretinal coloboma, Cryptorchidism, Anophth... OMIM:309800
Smith-Lemli-Opitz Syndrome
Small scrotum, Micrognathia, Cryptorchidism, Epicanthus, Holoprosencephaly, Hypospadias, Patent d... OMIM:270400
Aicardi-Goutieres Syndrome 5
Arthropathy, CSF lymphocytic pleiocytosis, Microcephaly, Thrombocytopenia, Flexion contracture OMIM:612952
Trichinellosis
Abnormal optic nerve morphology, Central retinal artery occlusion, Conjunctival hyperemia, Abnorm... ORPHA:863
Joubert Syndrome
Iris coloboma, Highly arched eyebrow, Abnormal form of the vertebral bodies, Encephalocele, Agang... ORPHA:475
Nance-Horan Syndrome
Cataract, Microcornea, Abnormality of the dentition, Retinal detachment, Microphthalmia, Supernum... ORPHA:627
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Peho Syndrome
Optic atrophy, Ventriculomegaly, Limitation of joint mobility, Arthrogryposis multiplex congenita... ORPHA:2836
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Failure to thrive, Microcephaly, Thrombocytopenia, Short stature, Scoliosis OMIM:616577
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Growth delay, Delayed skeletal maturation, Delayed cranial suture closure, Postnat... ORPHA:93325
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse eyebrow, Widely spaced teeth, Downslanted palpebral fissures, Micrognathia, Agenesis of co... ORPHA:459061
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Bernard-Soulier Syndrome
Gingival bleeding, Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggreg... OMIM:231200
Gaucher Disease Type 1
Gingival bleeding, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Pinguecula, Osteopenia, Chole... ORPHA:77259
X-Linked Agammaglobulinemia
Failure to thrive, Osteomyelitis, Weight loss, Short stature, Neutropenia, Sinusitis, Anemia, Con... ORPHA:47
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Widely spaced teeth, Postnatal growth retardation, Intrauterine growth retardation... ORPHA:2728
Developmental And Epileptic Encephalopathy 31B
Optic atrophy, Ventriculomegaly, Failure to thrive, Secondary microcephaly, Gingival overgrowth, ... OMIM:620352
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Microphthalmia, Hypoplasia o... ORPHA:2547
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Telecanthus, Narrow mouth, Hydrocephalus, Macrocephaly ORPHA:83473
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614897
Cystinosis
Type I diabetes mellitus, Rickets, Failure to thrive, Retinopathy, Delayed puberty, Corneal opaci... ORPHA:213
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Cryptorchidism, Agenesis of corpus callosum, Abnormal nasolacrimal... ORPHA:2273
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Carious teeth, Periodontitis, Enlarged platelet dense granules... OMIM:608233
Fontaine Progeroid Syndrome
Small scrotum, Aplastic/hypoplastic lacrimal glands, Micrognathia, Narrow mouth, Protruding tongu... OMIM:612289
Rhombencephalosynapsis
Ventriculomegaly, Microretrognathia, Abnormality of the uterus, Fusion of the left and right thal... ORPHA:59315
Congenital Fibrinogen Deficiency
Gingival bleeding, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Developm... ORPHA:335
Oculodentodigital Dysplasia
Carious teeth, Joint contracture of the 5th finger, Epicanthus, Blepharophimosis, Microphthalmia,... OMIM:164200
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Cataract, Failure to thrive in infancy, Microphthalmia OMIM:618805
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Microg... OMIM:112240
Joubert Syndrome With Hepatic Defect
Highly arched eyebrow, Occipital encephalocele, Chorioretinal coloboma, Optic disc coloboma, Sple... ORPHA:1454
Adams-Oliver Syndrome
Cataract, Failure to thrive, Leukopenia, Encephalocele, Hydrocephalus, Thrombocytopenia, Micropht... ORPHA:974
Eales Disease
Macular edema, Myelopathy, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularizati... ORPHA:40923
Oculopalatocerebral Syndrome
Microcephaly, Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia, Short stature,... OMIM:257910
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Genu valgum, Anophthalmia, Agenesis of corpus callosum, Bl... OMIM:164210
Whipple Disease
Insulin resistance, Splenomegaly, Cachexia, Hydrocephalus, Arthritis, Anemia, Erectile dysfunctio... ORPHA:3452
Beta-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic hypogonadi... ORPHA:848
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Delayed cranial suture closure, Micrognathia, Epicanthus, Short neck... OMIM:105650
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, Hypochromic anemia, Abnormality of neutrophils, Ocular albinism,... ORPHA:2720
Vici Syndrome
Everted upper lip vermilion, Lymphopenia, Postnatal growth retardation, Micrognathia, Decreased p... OMIM:242840
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid co... OMIM:167730
Monosomy 9P
Limitation of joint mobility, Micrognathia, Narrow mouth, Cryptorchidism, Agenesis of corpus call... ORPHA:261112
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus, Retinal degeneration, Ptosis OMIM:520000
Gaucher Disease, Perinatal Lethal
Ventriculomegaly, Everted upper lip vermilion, Retrognathia, Hepatosplenomegaly, Micrognathia, Op... OMIM:608013
Frontometaphyseal Dysplasia
Joint contracture of the hand, Micrognathia, Limited elbow movement, Dislocated radial head, Fuse... ORPHA:1826
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Oculodentodigital Dysplasia
Carious teeth, Micrognathia, Epicanthus, Non-midline cleft of the upper lip, Cataract, Microcorne... ORPHA:2710
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Natal tooth, Micrognathia, Epicanthus, High palate, Patent ductus ... OMIM:300373
Ring Chromosome 10 Syndrome
Long philtrum, Downslanted palpebral fissures, Intrauterine growth retardation, Micrognathia, Aga... ORPHA:1438
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Obesity, Thick ey... ORPHA:247768
Degcags Syndrome
Hepatosplenomegaly, Micrognathia, Pancytopenia, Protruding tongue, Cryptorchidism, Agenesis of co... OMIM:619488
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Ventriculomegaly, Retinopathy, Agenesis of corpus callosum, Abnormal n... ORPHA:2396
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Scoliosis, Long philtrum, Optic nerve hypoplasia OMIM:620502
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Downslanted palpebral fissures, Hyperextensibility of the finger joints, Bilateral ptosis, Absent... ORPHA:163979
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Cleft palate, Fused cerv... OMIM:214300
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Ventriculomegaly, Microretrognathia, Hypoplasia of the zygomatic bone, Downslanted palpebral fiss... OMIM:613603
Vitreoretinochoroidopathy
Microcornea, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Achondroplasia
Thoracolumbar kyphosis, Hip joint hypermobility, Disproportionate short stature, Rhizomelia, Cerv... ORPHA:15
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Thrombocytopenia OMIM:616913
Atelosteogenesis, Type I
Rhizomelia, Disproportionate short-limb short stature, Elbow dislocation, Knee dislocation, Thora... OMIM:108720
Von Willebrand Disease, Type 2
Menorrhagia, Thrombocytopenia OMIM:613554
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Hyperglycemia, Intrauterine growth retardation, Diabetes me... OMIM:613370
Arachnoid Cyst
Mydriasis, Enlarged fossa interpeduncularis, Sciatica, Cranial nerve compression, Lower limb pain... ORPHA:2356
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Failure to thrive, Pancytopenia, Autoimmune hemolytic anemia, Recurrent... OMIM:614700
Distal 22Q11.2 Microduplication Syndrome
Micrognathia, Cryptorchidism, Epicanthus, High palate, Biparietal narrowing, Patent ductus arteri... ORPHA:261337
Acute Promyelocytic Leukemia
Gingival bleeding, Pancytopenia, Gingival overgrowth, Leukopenia, Leukocytosis, Metrorrhagia, Wei... ORPHA:520
Intellectual Developmental Disorder, Autosomal Dominant 65
Downturned corners of mouth, Long philtrum, Thick upper lip vermilion, Thin eyebrow, Micrognathia... OMIM:619320
Phace Association
Optic atrophy, Lingual thyroid, Horner syndrome, Developmental cataract, Microphthalmia, Increase... OMIM:606519
Alpha-Mannosidosis, Adult Form
Cataract, Osteopenia, Hepatosplenomegaly, Pancytopenia, Optic disc pallor, Corneal opacity, Macro... ORPHA:309288
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio... OMIM:269400
Immunodeficiency 46
Failure to thrive, Neutropenia, Anemia, Conjunctivitis, Intermittent thrombocytopenia OMIM:616740
Say-Barber-Miller Syndrome
Tooth malposition, Carious teeth, Micrognathia, Cryptorchidism, Impaired neutrophil chemotaxis, R... ORPHA:3132
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Micrognathia, Narrow mouth, Cryptorchidism, Agenesis of corpus callosum, Absent eyel... OMIM:264090
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... OMIM:604229
Chromosome 13Q14 Deletion Syndrome
Growth delay, Chorioretinal coloboma, Supernumerary nipple, Micrognathia, Cryptorchidism, Retinob... OMIM:613884
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Tularemia
Brain abscess, Cutaneous abscess, Leukocytosis, Oral ulcer, Conjunctival hyperemia, Thrombocytope... ORPHA:3392
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Hypoplasia of the zygomatic bone, Bifid scrotum, Tooth agenesis, Downslanted palpe... ORPHA:1555
Frontonasal Dysplasia 2
Conical tooth, Short palpebral fissure, Sparse eyebrow, Bilateral cryptorchidism, Widely spaced t... OMIM:613451
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Osteomalacia, Postnatal growth retardation, Genu valgum, Cryptorch... OMIM:309000
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Miller Fisher Syndrome
Increased CSF protein concentration, Mydriasis, Ptosis, Facial palsy, Anisocoria, CSF pleocytosis ORPHA:98919
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Contracture of the distal interphalangeal joint of the fingers, Mic... ORPHA:83617
Dyskeratosis Congenita, Autosomal Dominant 3
Osteopenia, Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Growth delay, Pancyto... OMIM:613990
Hypermanganesemia With Dystonia 1
Polycythemia OMIM:613280
Mucolipidosis Ii Alpha/Beta
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Limitation of joint mobility, Myelo... OMIM:252500
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Delayed cranial suture closure, Os odontoideum, Postnatal growth retardation, Intraut... OMIM:616603
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis, Epiretinal membrane OMIM:148200
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Pfeiffer Syndrome Type 1
Aqueductal stenosis, High palate, Bicoronal synostosis ORPHA:93258
Nasu-Hakola Disease
Ventriculomegaly, Acute leukemia, Limitation of joint mobility, Hydrocephalus, Reduced bone miner... ORPHA:2770
Fetal Parvovirus Syndrome
Anemia, Intrauterine growth retardation, Thrombocytopenia ORPHA:295
Hoyeraal-Hreidarsson Syndrome
Bone marrow hypocellularity, Ventriculomegaly, Oral leukoplakia, Failure to thrive, Intrauterine ... ORPHA:3322
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Short palpebral fissure, Ventriculomegaly, Downslanted palpebral fissures, Decreased response to ... OMIM:617260
Orofaciodigital Syndrome I
Carious teeth, Ankyloglossia, Ovarian cyst, Agenesis of corpus callosum, Epicanthus, High palate,... OMIM:311200
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Hepatosplenomegaly, Weight loss, Oligozoospermia, Abnormal testis morphology, Anemi... ORPHA:85450
Recon Progeroid Syndrome
Dental crowding, Growth delay, Prominence of the premaxilla, Joint hypermobility, Microcephaly, S... OMIM:620370
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Shprintzen-Goldberg Syndrome
Elbow dislocation, Micrognathia, Genu valgum, Cryptorchidism, High, narrow palate, Osteopenia, Hy... ORPHA:2462
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Von Hippel-Lindau Syndrome
Retinal capillary hemangioma, Polycythemia, Pancreatic cysts, Pheochromocytoma, Paraganglioma, Ep... OMIM:193300
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Campomelic Dysplasia
Delayed epiphyseal ossification, Carious teeth, Hypoplastic cervical vertebrae, Contracture of th... OMIM:114290
Pfeiffer Syndrome Type 3
Limitation of joint mobility, Tracheomalacia, Aqueductal stenosis, High palate, Cleft palate ORPHA:93260
Marfanoid-Progeroid-Lipodystrophy Syndrome
High, narrow palate, Ectopia lentis, Retrognathia, Downslanted palpebral fissures, Lateral ventri... OMIM:616914
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Failure to thrive, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
19P13.13 Microdeletion Syndrome
Optic atrophy, Downslanted palpebral fissures, Long eyelashes, Narrow mouth, Malar flattening, Th... ORPHA:357001
Pallister-Hall Syndrome
Natal tooth, Cryptorchidism, Neonatal death, Radial head subluxation, Microphthalmia, Holoprosenc... OMIM:146510
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Nijmegen Breakage Syndrome
Retinal pigment epithelial mottling, Cleft upper lip, Malar prominence, Intrauterine growth retar... OMIM:251260
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Dyskeratosis Congenita, X-Linked
Carious teeth, Pancytopenia, Cryptorchidism, Sparse eyelashes, Acute myeloid leukemia, Hypospadia... OMIM:305000
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Sparse eyebrow, Natal tooth, Tracheomalacia, T... ORPHA:2108
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Carious teeth, Natal tooth, Secondary microcephaly, Postnatal growth retardation, Micrognathia, C... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Carious teeth, Natal tooth, Secondary microcephaly, Postnatal growth retardation, Micrognathia, C... ORPHA:353277
Acromelic Frontonasal Dysostosis
Ventriculomegaly, Cleft upper lip, Patellar hypoplasia, Hypopituitarism, Downslanted palpebral fi... OMIM:603671
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive, Intrauterine growt... OMIM:601410
Myh9-Related Disease
Giant platelets, Presenile cataracts, Congenital thrombocytopenia, Neutrophil inclusion bodies, M... ORPHA:182050
Neuroocular Syndrome 1
Hooded upper eyelid, Ankyloglossia, Hypoplasia of the fovea, Torus palatinus, Microphthalmia, Len... OMIM:619539
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Tracheomalacia, Chorioretinal coloboma, Micrognathia, Eyelid coloboma, ... ORPHA:268249
Intellectual Disability-Alacrima-Achalasia Syndrome
Ventriculomegaly, Anisocoria, Deep philtrum ORPHA:289483
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
High, narrow palate, Joint hypermobility, Hydrocephalus, Shoulder dislocation, Scoliosis, Kyphosis ORPHA:2181
Pediatric-Onset Graves Disease
Keratitis, Failure to thrive, Goiter, Intrauterine growth retardation, Splenomegaly, Microcephaly... ORPHA:525731
Weiss-Kruszka Syndrome
Highly arched eyebrow, Ventriculomegaly, Downslanted palpebral fissures, Exaggerated cupid's bow,... OMIM:618619
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Failure to thrive, Polyspleni... OMIM:306955
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon, Abnormal pupil morphology ORPHA:2151
Mietens Syndrome
Severe short stature, Cataract, Microcornea, Elbow dislocation, Avascular necrosis of the capital... ORPHA:2557
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Renpenning Syndrome 1
Joint contracture of the hand, Micrognathia, Narrow mouth, Death in childhood, Epicanthus, Microp... OMIM:309500
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hamartoma of tongue, Intrauterine growth retardation, Median cleft palate, Splenomeg... OMIM:269860
Mucopolysaccharidosis Type 2, Severe Form
Abnormal vertebral morphology, Limitation of joint mobility, Hepatosplenomegaly, Retinopathy, Art... ORPHA:217085
Superficial Siderosis
Increased CSF protein concentration, Abnormality of the vestibulocochlear nerve, Abnormality of t... ORPHA:247245
Transaldolase Deficiency
Anemia, Abnormal clitoris morphology, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Rhizomelia, Leukopenia, Microcephaly, Thrombocytopenia, Anemia, Shor... OMIM:618116
Chediak-Higashi Syndrome
Iris hypopigmentation, Periodontitis, Hemophagocytosis, Ocular albinism, Decreased nerve conducti... OMIM:214500
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Insulin-resistant diabetes mellitus, High palate, Precocious puberty, Postp... ORPHA:769
Cornea Plana 2, Autosomal Recessive
Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
3Mc Syndrome
Caudal appendage, Supernumerary nipple, Postnatal growth retardation, Radioulnar synostosis, Prom... ORPHA:293843
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph... ORPHA:39044
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Ventriculomegaly, Partial agenesis of the corpus callosum, Intrauterine growth retardation, Micro... OMIM:619074
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal vertebral morphology, Limitation of joint mobility, Hepatosplenomegaly, Retinopathy, Art... ORPHA:217093
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Babesiosis
Limitation of joint mobility, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia ORPHA:108
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Microcephaly, Joint contracture, Short stature, Short philtrum, Mandibular pro... OMIM:617864
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Ventriculomegaly, Thick upper lip vermilion, Long eyelashes, Thick eyebrow, Open m... OMIM:617281
Pearson Syndrome
Postnatal growth retardation, Pancytopenia, Neutropenia, Hypoparathyroidism, Hypoplastic spleen, ... ORPHA:699
Atypical Werner Syndrome
Limitation of joint mobility, Insulin-resistant diabetes mellitus, Neoplasm of the oral cavity, S... ORPHA:79474
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Occipital encephalocele, Hydrocephalus ORPHA:352682
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Infancy onset short-trunk short stature, Secondary microcephaly, Epi... ORPHA:508488
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Highly arched eyebrow, Sensory axonal neuropathy, Long palpebral fissure, Ptosis, Corneal opacity... OMIM:620469
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Joubert Syndrome 40
Almond-shaped palpebral fissure, Optic nerve hypoplasia OMIM:619582
Moyamoya Disease 6 With Or Without Achalasia
Impotence, Thrombocytopenia OMIM:615750
Nephronophthisis 11
Anemia, Anisocoria, Growth delay, Retinal degeneration OMIM:613550
Sturge-Weber Syndrome
Optic atrophy, Gingival overgrowth, Abnormal choroid morphology, Heterochromia iridis, Conjunctiv... ORPHA:3205
Rothmund-Thomson Syndrome Type 1
Carious teeth, Aplastic anemia, Cryptorchidism, Patellar aplasia, Neutropenia, Leukemia, Prematur... ORPHA:221008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Ventriculomegaly, Macrocephaly, Hydrocephalus, Microphthalmia, Buphthalmos, Retinal dys... OMIM:616538
Bickerstaff Brainstem Encephalitis
Increased CSF protein concentration, Mydriasis, Facial paralysis, Decreased motor nerve conductio... ORPHA:79138
Cockayne Syndrome Type 3
Lentiglobus, Carious teeth, Peripheral axonal neuropathy, Microphthalmia, Optic disc pallor, Corn... ORPHA:90324
Garg-Mishra Progeroid Syndrome
Platyspondyly, Dental crowding, Persistent open anterior fontanelle, Secondary microcephaly, Post... OMIM:620601
Propionic Acidemia
Failure to thrive, Hypoglycemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Osteoporosi... OMIM:606054
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Limitation of joint mobility, Slender build, High palate, Neonatal hypoglycemia, Sparse eyebrow, ... ORPHA:457359
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Motor axonal neuropathy, Microcephaly, Orthostatic hypotension, Abnormal autonomic... OMIM:231550
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Ventriculomegaly, Smooth tongue, Failure to thrive, Oral mucosal blisters, Enamel hypoplasia, Cor... ORPHA:79396
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Splenomegaly, Hydrocephalus, Neutropenia, Macrocephaly, Anemia, Th... ORPHA:398124
Ataxia-Telangiectasia
Failure to thrive, Lymphopenia, Glucose intolerance, Decreased proportion of CD4-positive helper ... OMIM:208900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Thrombocytopenia, Neutropenia, Anemia, Growth delay ORPHA:289916
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Growth delay, Failure... ORPHA:79282
Leishmaniasis
Abnormal oral mucosa morphology, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor, Retinal thinning OMIM:618970
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Hydranencephaly
Atrophic pituitary gland, Ventriculomegaly, Stiff neck, Dysgenesis of the thalamus, Postnatal gro... ORPHA:2177
Muscle-Eye-Brain Disease
Cataract, Optic atrophy, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Craniotubular Dysplasia, Ikegawa Type
Platyspondyly, Optic atrophy, Mydriasis, Long philtrum, Thick lower lip vermilion, Thick upper li... OMIM:619727
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Ventriculomegaly, Severe postnatal growth retardation, Shallow orbits... ORPHA:440713
Brittle Cornea Syndrome 1
Keratoconus, Dentinogenesis imperfecta, Abnormal cornea morphology, Congenital hip dislocation, S... OMIM:229200
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal dystrophy, Corneal... OMIM:608470
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Failure to thrive, Pancytopenia, Splenomegaly, Thrombocytopeni... OMIM:616050
Tetrasomy 15Q26
Microretrognathia, Downslanted palpebral fissures, Intrauterine growth retardation, Kyphoscoliosi... OMIM:614846
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Intrauterine growth retardation, Micrognathia, Encephalocele, Anencephaly, Mic... ORPHA:1908
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Coccidioidomycosis
Increased CSF protein concentration, Granuloma, Abnormality of the male genitalia, Abnormality of... ORPHA:228123
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Cataract, Osteopenia, Increased susceptibility to fractures, Biconcave vertebral ... OMIM:259770
Raine Syndrome
Natal tooth, Arthrogryposis multiplex congenita, Micrognathia, Narrow mouth, Protruding tongue, N... OMIM:259775
Primary Ciliary Dyskinesia
Abnormal sperm motility, Ventriculomegaly, Female infertility, Polysplenia, Chronic sinusitis, Hy... ORPHA:244
Thanatophoric Dysplasia, Type I
Platyspondyly, Disproportionate short-limb short stature, Lethal short-limbed short stature, Neon... OMIM:187600
Papillorenal Syndrome
Cataract, Macular degeneration, Optic disc coloboma, Retinal coloboma, Morning glory anomaly, Cho... OMIM:120330
Vascular Ehlers-Danlos Syndrome
Keratoconus, Carious teeth, Periodontitis, Uterine rupture, Narrow mouth, Cryptorchidism, Epicant... ORPHA:286
Cole-Carpenter Syndrome
Kyphosis, Delayed eruption of teeth, Abnormal form of the vertebral bodies, Downslanted palpebral... ORPHA:2050
Weill-Marchesani Syndrome 2
Tooth malposition, High palate, Patent ductus arteriosus, Lens luxation, Cataract, Hypoplasia of ... OMIM:608328
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Highly arched eyebrow, Abnormally large globe, Downturned corners of mouth, Cleft upper lip, Dela... OMIM:239300
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Chorioretinal coloboma, Ankyloglossia, Peripheral demyelination, Genu valgum, Decreased body weig... OMIM:619475
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Mogs-Cdg
Optic atrophy, Short palpebral fissure, Retrognathia, External genital hypoplasia, Hepatosplenome... ORPHA:79330
Xeroderma Pigmentosum
Cataract, Craniofacial hyperostosis, Abnormality of the dentition, Keratitis, Ankyloblepharon, De... ORPHA:910
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Leukopenia, Microcephaly, Thrombocytopenia, Anemia OMIM:615715
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Carious teeth, Natal tooth, Ankyloglossia, Micrognathia, Epicanthus, Aplasia of the thymus, Micro... OMIM:620186
Joubert Syndrome 21
Optic atrophy, Occipital encephalocele, Retinopathy, Anophthalmia, Splenomegaly, Chronic sinusiti... OMIM:615636
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Spontaneous hemolytic crises, Stomatocytosis, Decreased thalamic volume, Hypoglycorrhac... ORPHA:168577
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Mandibular prognathia, Cleft upper lip, Long eyelashes, Malar flattening, Acetabul... OMIM:201180
Focal Facial Dermal Dysplasia Type Iv
Cleft upper lip, Microcephaly, Hydrocephalus, Cleft palate, Abnormal mast cell morphology ORPHA:398189
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Optic atrophy, Ventriculomegaly, Failure to thrive, Joint hypermobility, Hydrocephalus, Macroceph... ORPHA:60040
Tetrasomy 5P
Failure to thrive, Long philtrum, Postnatal growth retardation, Micrognathia, Upslanted palpebral... ORPHA:3309
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Secondary microcephaly, Abnormality of retinal pigmentation, Hydrocephalus ORPHA:397951
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Optic atrophy, Downturned corners of mouth, Telecanthus, Malar flattening, Joint hype... OMIM:618590
Curry-Jones Syndrome
Ventriculomegaly, Lip pit, Unicoronal synostosis, Bicoronal synostosis, Occipital meningocele, Ag... OMIM:601707
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Oral ulcer, Cryptor... OMIM:612541
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Thanatophoric Dysplasia Type 1
Platyspondyly, Ventriculomegaly, Kyphosis, Lethal short-limbed short stature, Joint stiffness, Ab... ORPHA:1860
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypospadias, Cleft lip, Dental malocclusion, Lacrimal duct atresia, Microphthalmia, Cry... OMIM:603457
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Coach Syndrome 2
Hydrocephalus, Chorioretinal coloboma, Agenesis of corpus callosum OMIM:619111
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Endocrine-Cerebroosteodysplasia
Small scrotum, Ventriculomegaly, Ankyloblepharon, Natal tooth, Microphallus, Thick upper lip verm... OMIM:612651
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Joint contracture of the hand, Abnormal pupil morphology, An... ORPHA:90658
Scheie Syndrome
Abnormal nerve conduction velocity, Limitation of joint mobility, Joint stiffness, Splenomegaly, ... ORPHA:93474
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic... OMIM:610256
Mowat-Wilson Syndrome
Tooth malposition, Genu valgum, Open mouth, Axenfeld anomaly, Cryptorchidism, Agenesis of corpus ... ORPHA:2152
Aggressive Systemic Mastocytosis
Pathologic fracture, Bone pain, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, In... ORPHA:98850
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Curly eyelashes, Sparse eyelashes, Conical primary incisor, Corneal opacity, Blep... OMIM:602400
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida, Macrocephaly ORPHA:1931
Combined Oxidative Phosphorylation Deficiency 14
Ventriculomegaly, Increased CSF lactate, Death in childhood, Death in infancy, Microcephaly, Thro... OMIM:614946
Traboulsi Syndrome
Cataract, Bifid uvula, Ectopia lentis, Dental malocclusion, Phakodonesis, Retrognathia, Downslant... OMIM:601552
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Joint stiffness, Epiphyseal stippling, Splenomegaly... ORPHA:584
Mody
Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc... ORPHA:552
Trisomy 8P
Bifid uvula, Annular pancreas, Retrognathia, Sacral dimple, Upslanted palpebral fissure, Astigmat... ORPHA:264450
Galloway-Mowat Syndrome 3
Ventriculomegaly, Failure to thrive, Downslanted palpebral fissures, Intrauterine growth retardat... OMIM:617729
Fetal Akinesia Deformation Sequence 1
Micrognathia, Narrow mouth, Cryptorchidism, Hip contracture, Short neck, Elbow ankylosis, Blephar... OMIM:208150
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Cleft palate, Abnormal vertebral segmenta... OMIM:118100
Chime Syndrome
Abnormality of the dentition, Acute leukemia, Osteolysis, Retinal coloboma, Abnormal dental morph... ORPHA:3474
Gomez-Lopez-Hernandez Syndrome
Downslanted palpebral fissures, Decreased response to growth hormone stimulation test, Malar flat... OMIM:601853
Craniolenticulosutural Dysplasia
Carious teeth, Cryptorchidism, High palate, Osteopenia, Thin upper lip vermilion, Macrocephaly, H... OMIM:607812
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Abnormality of the dentition, Keratoconjunctivitis sicca, Microphthalmia, ... ORPHA:1806
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Flexion contracture of finger, Epididymitis, Irregular menstruation, Recurrent... OMIM:256040
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Growth delay, Insulin-resistant diabetes mellitus, Delayed cranial suture closur... OMIM:608612
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Abnormal optic nerve morphology, Leukocytosis, Splen... ORPHA:3226
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sider... OMIM:617021
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Brucellosis
Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Epididymitis, Granuloma, O... ORPHA:1304
Frontometaphyseal Dysplasia 2
Bifid uvula, Congenital hip dislocation, Dislocated radial head, Elbow contracture, Downslanted p... OMIM:617137
Fucosidosis
Abnormality of the dentition, Failure to thrive, Corneal opacity, Anterior beaking of lumbar vert... ORPHA:349
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Alkaptonuria
Limited hip movement, Brown pigmentation of the conjunctiva, Intervertebral disk degeneration, Ar... OMIM:203500
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ventriculomegaly, Delayed eruption of teeth, Widely spaced teeth, Gingival overgrowth, Splenomega... OMIM:301072
Achondroplasia
Rhizomelia, Spinal stenosis with reduced interpedicular distance, Neonatal short-limb short statu... OMIM:100800
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Microcephaly, Hydrocephalus, Dandy-Walker malform... OMIM:611134
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage, Gonadal hypoplasia, Bilateral cryptorchi... OMIM:278800
Combined Oxidative Phosphorylation Deficiency 55
Ventriculomegaly, Bilateral ptosis, Hypophosphatemic rickets, Open mouth, Microcephaly, Epicanthu... OMIM:619743
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Small for gestational age, Failure to thrive, Pancytopenia, Thin upper lip vermilion, Glossitis, ... OMIM:277380
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Lip pit, Supernumerary nipple, Camptodactyly of finger, Telecanthus, Abnor... ORPHA:1236
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
B4Galt1-Cdg
Long philtrum, Splenomegaly, Thin upper lip vermilion, Hydrocephalus, Small for gestational age, ... ORPHA:79332
Digeorge Syndrome
Micrognathia, Intervertebral disk degeneration, Ovarian cyst, Posterior embryotoxon, Blepharophim... OMIM:188400
6Q Terminal Deletion Syndrome
High, narrow palate, Highly arched eyebrow, Short palpebral fissure, Failure to thrive, Macroceph... ORPHA:75857
Refsum Disease
Cataract, Retinopathy, Splenomegaly, Abnormality of retinal pigmentation, Ptosis, Microphthalmia ORPHA:773
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Death in childhood, Death ... OMIM:619644
Cyclic Neutropenia
Periodontitis, Atrophy of alveolar ridges, Lymphopenia, Cyclic neutropenia, Oral ulcer, Perianal ... ORPHA:2686
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Growth delay, Hypoplasia of the zygomatic bone, Camptodactyly of finge... ORPHA:920
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Macular atrophy, Retinal detachment, Micropht... OMIM:212550
Choreoacanthocytosis
Blepharospasm, Temporomandibular joint crepitus, Lateral ventricle dilatation, Decreased amplitud... ORPHA:2388
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Optic nerve hyp... ORPHA:65288
Wiskott-Aldrich Syndrome
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Keratitis, Blepharitis, Microc... ORPHA:906
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Joint swelling, Abscess, N... OMIM:612852
Aicardi-Goutières Syndrome
Ventriculomegaly, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic CSF lymphocyt... ORPHA:51
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Mucopolysaccharidosis Type 6
Failure to thrive, Thick lower lip vermilion, Joint stiffness, Genu valgum, Splenomegaly, Short n... ORPHA:583
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Short stature OMIM:231000
Porphyria, Congenital Erythropoietic
Osteopenia, Cholelithiasis, Joint contracture of the hand, Erythrodontia, Pathologic fracture, Co... OMIM:263700
Cog4-Cdg
Failure to thrive in infancy, Hepatosplenomegaly, Microcephaly, Thrombocytopenia, Growth delay ORPHA:263501
Diamond-Blackfan Anemia 21
Horizontal eyebrow, Downslanted palpebral fissures, Obesity, Micrognathia, Narrow mouth, Genu val... OMIM:620072
Felty Syndrome
Bone marrow hypocellularity, Limitation of joint mobility, Abnormal joint morphology, Abnormal ly... ORPHA:47612
Ichthyosis, X-Linked
Opacification of the corneal stroma, Cryptorchidism, Testicular neoplasm OMIM:308100
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Coronal craniosynostosis, Astigmatism, O... ORPHA:2095
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Abnormal eyelid morphology, Hydrocephalus ORPHA:251915
Pseudoaminopterin Syndrome
Highly arched eyebrow, Synostosis of carpal bones, Hip subluxation, Sacrococcygeal pilonidal abno... ORPHA:221120
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Leukopenia, Macrocytic anemia, Thrombocytopenia, Anemia ORPHA:27
Bardet-Biedl Syndrome
Hydrometrocolpos, Type II diabetes mellitus, Cryptorchidism, Polycystic ovaries, Cone/cone-rod dy... ORPHA:110
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Scheie Syndrome
Genu valgum, Spondylolisthesis, Retinal degeneration, Short neck, Corneal opacity, Mandibular pro... OMIM:607016
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Abnormality of canine, Sparse eyebrow, Widely spaced teeth, Supernumerary nipple, Downslanted pal... ORPHA:477993
Muenke Syndrome
High, narrow palate, Coronal craniosynostosis, Carpal synostosis, Malar flattening, Ptosis, Hydro... ORPHA:53271
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Cleft palate ORPHA:945
Immunodeficiency 32B
Failure to thrive, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, Monocytopenia... OMIM:226990
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Elliptocytosis, Atten... OMIM:616959
Neural Tube Defects, Susceptibility To
Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b... OMIM:182940
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Thrombocytopenia, Anemia OMIM:613101
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Ventriculomegaly, Anisocoria OMIM:300858
Stevenson-Carey Syndrome
Joint contracture of the hand, Downturned corners of mouth, Downslanted palpebral fissures, Narro... OMIM:611961
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Wide mouth, Hydrocephalus OMIM:616521
Rothmund-Thomson Syndrome Type 2
Carious teeth, Aplastic anemia, Cryptorchidism, Patellar aplasia, Neutropenia, Leukemia, High pal... ORPHA:221016
Kaposiform Lymphangiomatosis
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Fractures of the long bones, H... ORPHA:464329
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Kenny-Caffey Syndrome, Type 2
Severe short stature, Microphthalmia, Hypoparathyroidism, Papilledema, Delayed closure of the ant... OMIM:127000
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Kindler Epidermolysis Bullosa
Carious teeth, Periodontitis, Camptodactyly of finger, Abnormal dental enamel morphology, Ectropi... ORPHA:2908
Ciliary Dyskinesia, Primary, 1
Abnormal cornea morphology, Absent outer dynein arms, Chronic sinusitis, Absent frontal sinuses, ... OMIM:244400
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Lobulated tongue, Telecanthus, Micrognathia, Malar flattening, Agenesi... OMIM:252100
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Microcephaly, Neutropenia, Thrombocytopenia, Macrothrombocyto... OMIM:603585
Heart And Brain Malformation Syndrome
High, narrow palate, Cleft lip, Thick lower lip vermilion, Camptodactyly of finger, Microcephaly,... OMIM:616920
Hydrolethalus Syndrome 2
Ventriculomegaly, Micrognathia, Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Cleft pa... OMIM:614120
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Lateral ventricle dilatation, Failure to thrive, Knee dislocation, Splenomegaly, Upsl... OMIM:619534
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Cataract, Bone marrow hypocellularity, Delayed eruption of teeth, Rhizomelic arm shortening, Lymp... ORPHA:508542
Pallister-Hall Syndrome
Small scrotum, Natal tooth, Hydrometrocolpos, Hypopituitarism, Cryptorchidism, Micropenis, Radial... ORPHA:672
Congenital Disorder Of Deglycosylation 1
Decreased CSF 5-hydroxyindolacetic acid concentration, Decreased CSF albumin concentration, Open ... OMIM:615273
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Secondary microcephaly, Pancytopenia, Megaloblastic anemia, De... OMIM:613839
Dk Phocomelia Syndrome
Encephalocele, Thrombocytopenia OMIM:223340
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip, Microphthalmia OMIM:600251
Ivic Syndrome
Carpal synostosis, Limited wrist movement, Leukocytosis, Limited elbow movement, Carpal bone hypo... OMIM:147750
Rothmund-Thomson Syndrome
Carious teeth, Aplastic anemia, Aplasia/Hypoplasia of the patella, Sparse eyelashes, Neutropenia,... ORPHA:2909
Spastic Paraplegia 54, Autosomal Recessive
Short stature, High palate, Telecanthus, Optic nerve hypoplasia OMIM:615033
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Scoliosis, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Rodrigues Blindness
Tooth malposition, Microcornea, Microphthalmia, Sclerocornea, Short stature OMIM:268320
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bone marrow hypocellularity, Optic atrophy, Oral leukoplakia, Pathologic fracture, Po... OMIM:612199
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Splenomegaly, Amelogenesis imperfecta, Thrombocytopenia, Hypocalcificatio... ORPHA:169090
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Carious teeth, Aplastic anemia, Oral leukoplakia, Pterygium, Pancyto... OMIM:224230
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Downturned corners of mouth, Postnatal growth retardation, Micrognathia, Narrow mouth, Thin upper... OMIM:620029
Lymphedema-Distichiasis Syndrome
Kyphosis, Cleft upper lip, Micrognathia, Recurrent corneal erosions, Distichiasis, Ptosis, Microp... OMIM:153400
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Thrombocytopenia, Testicular atrophy... OMIM:613987
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Downslanted palpebral fissures, Increased size of the mandible, Smooth philtrum, Thrombocytopenia... OMIM:300048
Amelocerebrohypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Abnormal dental enamel morphology, Amelogenesis imperfec... ORPHA:1946
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Rapidly Involuting Congenital Hemangioma
Avascular necrosis, Thrombocytopenia ORPHA:141184
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Secondary microcephaly, Microcephaly, Hydrocephalus OMIM:615599
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Microcephaly, Polycythemia, Splenomegaly ORPHA:309854
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Dyskeratosis Congenita, Autosomal Dominant 2
Abnormality of the dentition, Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Fai... OMIM:613989
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the fundus, Ocular albinism, Leukopenia, Abnormal platelet aggregation, Throm... OMIM:614171
46,Xx Sex Reversal 1
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Azoospermia, True hermaphro... OMIM:400045
Osteopetrosis With Renal Tubular Acidosis
Tooth malposition, Pancytopenia, Micrognathia, Narrow mouth, Elliptocytosis, High palate, Seconda... ORPHA:2785
Noonan Syndrome 1
Postnatal growth retardation, Micrognathia, Cryptorchidism, Synovitis, Epicanthus, Short neck, Hi... OMIM:163950
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Increased CSF lactate, Leukocytosis, Hydrocephalus, Hyperglycorrh... ORPHA:90065
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Type II diabetes mellitus, Motor axonal neuropathy ORPHA:247815
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation, Thick eyebrow, Epiblepharon, Microcephaly, Short stature OMIM:618367
Chromosome 16P13.3 Duplication Syndrome
Micrognathia, Cryptorchidism, Epicanthus, Short neck, Narrow palpebral fissure, Hip dislocation, ... OMIM:613458
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Micrognathia, Narrow mouth, Cryptorchidism, Encephalocele, Microcep... ORPHA:2166
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Thrombocytopenia, Abnormal autonomic nervous system physiology, Anterior op... ORPHA:83601
Sitosterolemia 1
Stomatocytosis, Giant platelets, Xanthelasma, Reticulocytosis, Splenomegaly, Episodic hemolytic a... OMIM:210250
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy, Decreased nerve conduction velocity, Flexion contracture of finger, Absent brains... ORPHA:101085
Frontofacionasal Dysplasia
Cataract, Microcornea, Hypoplasia of the frontal bone, Bifid uvula, Ankyloblepharon, Cleft upper ... OMIM:229400
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Scoliosis, Kyphosis, Irregular carpal bo... OMIM:252600
Prolidase Deficiency
Failure to thrive, Micrognathia, Splenomegaly, Ptosis, Thrombocytopenia, Anemia, High palate OMIM:170100
Monosomy 13Q14
Cataract, Intrauterine growth retardation, Micrognathia, Retinoblastoma, Microcephaly, Short neck... ORPHA:1587
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Butterfly vertebrae, Submucous cleft hard palate, Microcephaly, Short stature, Spin... OMIM:619227
Turner Syndrome Due To Structural X Chromosome Anomalies
Postnatal growth retardation, Hyperinsulinemia, Micrognathia, Genu valgum, Type II diabetes melli... ORPHA:99413
Mosaic Monosomy X
Postnatal growth retardation, Hyperinsulinemia, Micrognathia, Genu valgum, Type II diabetes melli... ORPHA:99228
Monosomy X
Postnatal growth retardation, Hyperinsulinemia, Micrognathia, Genu valgum, Type II diabetes melli... ORPHA:99226
Turner Syndrome
Postnatal growth retardation, Hyperinsulinemia, Micrognathia, Genu valgum, Type II diabetes melli... ORPHA:881
Thrombocytopenia, Paris-Trousseau Type
Ptosis, Micrognathia, Thrombocytopenia OMIM:188025
Congenital Enterovirus Infection
Ventriculomegaly, Leukopenia, Leukocytosis, Abnormal macrophage morphology, CSF lymphocytic pleio... ORPHA:292
17Q12 Microduplication Syndrome
Abnormal vertebral morphology, Microphthalmia, Cleft palate, Synophrys ORPHA:261272
Immune Thrombocytopenia
Gingival bleeding, Abnormal vaginal bleeding, Thrombocytopenia ORPHA:3002
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Thrombocytopenia, B lymphocytopenia, I... OMIM:618048
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Congenital hip dislocation, Absent nipple, Downslanted palpebral fissures, Cubitus valgus, Epican... OMIM:104350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Ventriculomegaly, Optic atrophy, Megalocornea, Micrognathia, Malar flattening, Hypoplas... OMIM:253280
Craniosynostosis 4
Ectopic posterior pituitary, Lambdoidal craniosynostosis, Coronal craniosynostosis, Retrognathia,... OMIM:600775
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Long philtrum, Malar flattening, Humerorad... OMIM:207410
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Downturned corners of mouth, Ptosis, Orthostatic hypotension, Short philtrum, Anisocoria OMIM:615510
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Microphthalmia, Aplasia/H... ORPHA:83461
Ivic Syndrome
Severe short stature, Synostosis of carpal bones, Joint stiffness, Leukocytosis, Radioulnar synos... ORPHA:2307
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism, Intrauterine growth retardation, Micrognathia, Upslanted palpebral fissure, Micr... ORPHA:1352
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma, Cryptorchidism ORPHA:461
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Stuve-Wiedemann Syndrome 1
Carious teeth, Pursed lips, Micrognathia, Short neck, Ovoid vertebral bodies, Short palpebral fis... OMIM:601559
Bleeding Disorder, Platelet-Type, 21
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregation, Menor... OMIM:617443
Stevens-Johnson Syndrome
Entropion, Dyspareunia, Weight loss, Thrombocytopenia, Anemia, Conjunctivitis, Abnormality of neu... ORPHA:36426
Townes-Brocks Syndrome
Abnormal vertebral morphology, Abnormal vagina morphology, Chorioretinal coloboma, Cryptorchidism... ORPHA:857
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Microphthalmia, Syndromic 11
Cleft upper lip, Agenesis of corpus callosum, Agenesis of pineal gland, Microphthalmia, Cleft palate OMIM:614402
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Diastema, Supernumerary maxillary incisor, Development... OMIM:302350
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Downslanted palpebral fissures, Micrognathia, Cleft soft palate, Smooth philtrum,... OMIM:614526
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Micrognathia, Epicanthus, Short neck, Sutural cataract, Microphthalmia, High palate, Patent ductu... OMIM:612474
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia ORPHA:3327
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Microcephaly, Dilated third ventricle OMIM:619725
Gaucher Disease, Type I
Pathologic fracture, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Macular atrophy... OMIM:230800
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Widely spaced teeth, Ectopic ossification in ligament tissue, Pr... OMIM:135100
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Type I diabetes mellitus, Lymphopenia, Cryptorchidism, Thrombocytopenia, Anemia OMIM:620365
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy, Failure to thrive, Decreased methylmalonyl-CoA mutase activity, Microceph... OMIM:277400
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Ventriculomegaly, Vertebral wedging, Micrognathia, Decreased calvarial ossificatio... OMIM:617866
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Dyschondrosteosis-Nephritis Syndrome
Intrauterine growth retardation, Mesomelic short stature, Microdontia, Madelung deformity, Cornea... ORPHA:1765
Oculotrichoanal Syndrome
Nasolacrimal duct obstruction, Cryptophthalmos, Anophthalmia, Upper eyelid coloboma, Microphthalmia ORPHA:2717
Aase-Smith Syndrome I
Open mouth, Death in infancy, Ptosis, Hydrocephalus, Dandy-Walker malformation, Flexion contractu... OMIM:147800
Retinoblastoma
Hypopyon, Pineoblastoma, Subretinal pigment epithelium hemorrhage, Retinoblastoma, Abnormality of... ORPHA:790
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization, Iron deficiency anemia, Neutropenia, Thrombocytopenia, Increased mean ... ORPHA:494444
Camurati-Engelmann Disease
Optic atrophy, Carious teeth, Craniofacial osteosclerosis, Delayed eruption of teeth, Limitation ... ORPHA:1328
Ophthalmoplegia, Familial Static
Ptosis, Anisocoria OMIM:165000
Czeizel-Losonci Syndrome
Myelomeningocele, Micrognathia, Upslanted palpebral fissure, Hypoplastic nipples, Thoracolumbar s... ORPHA:2437
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... ORPHA:231736
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Decreased proportion of CD4-positive helper ... ORPHA:543
Carney Complex
Euthyroid multinodular goiter, Increased circulating prolactin concentration, Neoplasm of the pan... ORPHA:1359
Joubert Syndrome 22
Intrauterine growth retardation, Retinal dysplasia, Microphthalmia OMIM:615665
Toxic Epidermal Necrolysis
Abnormal vagina morphology, Entropion, Weight loss, Thrombocytopenia, Neutropenia, Anemia, Conjun... ORPHA:537
Rhabdoid Tumor
Anemia, Weight loss, Thrombocytopenia ORPHA:69077
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Micrognathia, Death in infancy, Microcephaly, Thrombocytopenia, Arthrogryposis... OMIM:208085
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Shallow acetabular fossae, Micrognathia, Cryptorchidism, Epicanthus, Short neck, Blepharophimosis... OMIM:609945
Rift Valley Fever
Gingival bleeding, Macular edema, Retinal hemorrhage, Retinal vasculitis, Retinitis, Miscarriage,... ORPHA:319251
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Retrognathia, Micrognathia, Decreased calvarial ossif... OMIM:619879
Shigellosis
Microangiopathic hemolytic anemia, Hypoglycemia, Failure to thrive in infancy, Leukocytosis, Absc... ORPHA:810
Holocarboxylase Synthetase Deficiency
Keratoconjunctivitis, Weight loss, Growth delay, Thrombocytopenia ORPHA:79242
Holoprosencephaly 2
Bifid uvula, Anterior pituitary agenesis, Alobar holoprosencephaly, Semilobar holoprosencephaly, ... OMIM:157170
Fabry Disease
Cataract, Optic atrophy, Thick lower lip vermilion, Conjunctival telangiectasia, Delayed puberty,... ORPHA:324
Tetraamelia Syndrome 1
Cataract, Absent external genitalia, Cleft upper lip, Micrognathia, Adrenal gland agenesis, Hydro... OMIM:273395
Intestinal Botulism
Mydriasis, Ptosis, Death in infancy ORPHA:178481
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Occipital encephalocele, Joint... ORPHA:1571
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Joint hypermobility, Keratoglobus, Sclerocornea, ... OMIM:614170
Oculoectodermal Syndrome
Microcornea, Growth delay, Supernumerary nipple, Astigmatism, Eyelid coloboma, Chorioretinal atro... OMIM:600268
Mucolipidosis Iii Gamma
Joint stiffness, Genu valgum, Claw hand deformity, Short neck, Short stature, Hyperlordosis, Fing... OMIM:252605
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Bone pain, Leukocytosis, Splenomegaly, Increa... ORPHA:98849
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Hydrocephalus OMIM:612247
Myoclonic-Astatic Epilepsy
Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Microcephaly, Microphthalmia,... ORPHA:1942
Riddle Syndrome
Chronic sinusitis, Recurrent sinusitis, Conjunctival telangiectasia, Microcephaly, Weight loss, C... ORPHA:420741
Cardiospondylocarpofacial Syndrome
Failure to thrive, Long philtrum, Carpal synostosis, Delayed skeletal maturation, Decreased testi... OMIM:157800
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Failure to thrive, Sideroblastic anemia, Pancytopenia, Death in childho... OMIM:557000
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Recurre... OMIM:301078
Lcat Deficiency
Hemolytic anemia, Corneal opacity ORPHA:650
Aicardi-Goutieres Syndrome 1
Chronic CSF lymphocytosis, Splenomegaly, CSF lymphocytic pleiocytosis, Microcephaly, Progressive ... OMIM:225750
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Retinopathy, Splenomegaly, Thrombocytopenia, Blepharitis ORPHA:158029
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Disproportionate short stature, Downturned corners of mouth, Retrognathia, Lymphopenia, Leukopeni... OMIM:301110
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Delayed cranial suture closure, Hyperglycemia, Hyperinsuline... OMIM:248370
Pfeiffer Syndrome
Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding, Downslanted palpebral fissu... OMIM:101600
Al-Gazali Syndrome
Osteopenia, Failure to thrive, Micrognathia, Recurrent fractures, Wrist flexion contracture, Corn... OMIM:609465
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia, Diabetes mellitus OMIM:613845
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Steinfeld Syndrome
Abnormal vertebral morphology, Bifid uvula, Abnormality of the vertebral column, Retinal coloboma... OMIM:184705
Shwachman-Diamond Syndrome 1
Failure to thrive, Delayed skeletal maturation, Persistence of hemoglobin F, Pancytopenia, Irregu... OMIM:260400
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Highly arched eyebrow, Retrognathia, Microcephaly, Broad eyebrow, Primary microcephaly, Thrombocy... ORPHA:457351
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Hypopituitari... ORPHA:91350
Arnold-Chiari Malformation Type I
Myelopathy, Cranial nerve compression, Stiff neck, Abnormality of the vestibulocochlear nerve, Ce... ORPHA:268882
Tangier Disease
Peripheral demyelination, Facial diplegia, Splenomegaly, Peripheral axonal neuropathy, Cicatricia... OMIM:205400
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Hypoglycemia, Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Limbal Stem Cell Deficiency
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... ORPHA:171673
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, R... OMIM:613673
Chédiak-Higashi Syndrome
Iris hypopigmentation, Gingival bleeding, Abnormality of neutrophil physiology, Periodontitis, He... ORPHA:167
Shwachman-Diamond Syndrome 2
Normocytic anemia, Failure to thrive, Death in childhood, Death in infancy, Hyperechogenic pancre... OMIM:617941
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Small joint hyp... OMIM:184095
Pentalogy Of Cantrell
Polysplenia, Absent gallbladder, Encephalocele, Anencephaly, Orofacial cleft, Hydrocephalus, Scol... ORPHA:1335
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Intrauterine growth retardation, Micrognathia, Micr... OMIM:236680
Otopalatodigital Syndrome, Type Ii
Postnatal growth retardation, Micrognathia, Narrow mouth, Cryptorchidism, Short neck, Hypospadias... OMIM:304120
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Bifid uvula, Small scrotum, Long philtrum, Telecanthus, Malar flattening, Upslanted palpebral fis... OMIM:620330
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cataract, Dilated third ventricle, Optic atrophy, Abnormal cerebrospinal fluid morphology ORPHA:314404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Retinal dysplasia, Occipital encephalocele, Decreased testicular size, Optic ne... OMIM:615287
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased CSF protein concentration, Hemophagocytosis, Failure to thrive, Leukopenia, Hepatosplen... OMIM:603553
Hb Bart'S Hydrops Fetalis
Anemia, Hydrocephalus, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Teebi-Shaltout Syndrome
High, narrow palate, Highly arched eyebrow, Caudal appendage, Prominent palatine ridges, Telecant... OMIM:272950
Cryptococcosis
Abnormal optic nerve morphology, Osteomyelitis, Abnormal cranial nerve morphology, Prostatitis, H... ORPHA:1546
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased CSF protein concentration, Hemophagocytosis, Failure to thrive, Leukopenia, Splenomegal... OMIM:267700
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Generalized bone demineralization, Abnormal T cell morphology, Short stature, Opacification of th... OMIM:215250
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess, Neutropenia, B lymp... OMIM:150550
Coffin-Siris Syndrome 12
Velopharyngeal insufficiency, Delayed cranial suture closure, Micrognathia, Cryptorchidism, Radio... OMIM:619325
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Hypoplasia of the maxilla, Hypoplasia of the frontal bone, Sparse eyebrow, Cranium bifi... ORPHA:306542
Isovaleric Acidemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Snakebite Envenomation
Gingival bleeding, Hypopituitarism, Thrombocytopenia ORPHA:449285
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Splenomegaly, Thrombocytopenia, Sinusitis, Anemia, Conjunctivitis... OMIM:617591
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Abnormality of the dentition, Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buph... OMIM:251750
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Limb Body Wall Complex
Progressive congenital scoliosis, Cleft lip, Abnormality of the vertebral column, Myelomeningocel... ORPHA:2369
Dural Sinus Malformation
Myelopathy, Chemosis, Papilledema, Hydrocephalus, Macrocephaly ORPHA:97339
Von Willebrand Disease, Type 3
Menorrhagia, Joint hemorrhage, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Sparse eyebrow, Ventriculomegaly, Downslanted palpebral fissures, Large for gestational age, Comm... OMIM:617011
Alström Syndrome
Testicular fibrosis, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ... ORPHA:64
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Cat Eye Syndrome
Chorioretinal coloboma, Downslanted palpebral fissures, Micrognathia, Epicanthus, Microphthalmia,... OMIM:115470
Iatrogenic Botulism
Mydriasis, Ptosis, Orthostatic hypotension ORPHA:254509
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Wormian bones, Opacification of the corneal stroma, Macrocephaly OMIM:601356
Cholesteryl Ester Storage Disease
Failure to thrive, Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomegaly, Death in infancy,... OMIM:278000
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... ORPHA:331206
Avian Influenza
Lymphopenia, Leukopenia, Thrombocytopenia, Conjunctivitis, Miscarriage ORPHA:454836
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Frontonasal Dysplasia 3
Sparse eyelashes, Upper eyelid coloboma, Absent eyebrow, Microphthalmia, Cleft palate OMIM:613456
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Juvenile Glaucoma
Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art... ORPHA:98977
Von Willebrand Disease
Abnormality of thrombocytes, Microcytic anemia, Thrombocytopenia, Joint hemorrhage, Abnormal plat... ORPHA:903
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Degeneration of anterior horn cells, Axonal degeneration, Decreased number of peri... OMIM:604484
Smooth Muscle Dysfunction Syndrome
Mydriasis, Retinal infarction, Patent ductus arteriosus, Cryptorchidism OMIM:613834
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Failure to thrive, Large for gestational age, Thrombocytopenia, Neut... OMIM:614520
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Anencephaly, Microphthalmia, Meningocele, Cleft p... OMIM:603194
Primary Sjögren Syndrome
Normocytic anemia, Corneal perforation, Parotitis, Lymphopenia, Leukopenia, Polyarticular arthrop... ORPHA:289390
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Hypoglycemia, Decreased methylmalonyl-CoA mutase activity, Pancytopenia, Throm... OMIM:251110
Pyruvate Carboxylase Deficiency
Ventriculomegaly, Failure to thrive, Hypoglycemia, Increased CSF citrulline concentration, Increa... ORPHA:3008
Hereditary Acrokeratotic Poikiloderma
Gingival bleeding, Abnormality of the dentition, Oral leukoplakia, Camptodactyly of finger, Open ... ORPHA:2907
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Intrauterine growth retardation, Elevated hemoglobin A1c... OMIM:606176
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Hip dislocation, Optic nerve hypoplasia ORPHA:572013
Necrotizing Enterocolitis
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Thrombocytopenia, Neutropenia, Small f... ORPHA:391673
Toxin-Mediated Infectious Botulism
Mydriasis, Ptosis ORPHA:230800
Tufted Angioma
Anemia, Hemangioma of the lip, Thrombocytopenia ORPHA:1063
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impai... OMIM:153670
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormality of the sphenoid sinus, Micrognathia, Genu valgum, Epicanthus, High palate, Granuloma,... ORPHA:363700
Quebec Platelet Disorder
Menorrhagia, Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante... ORPHA:67042
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Fractured rib, Osteopenia, Ventriculomegaly, Recurrent fractures, Splenic cy... OMIM:618188
Plasminogen Deficiency, Type I
Ventriculomegaly, Periodontitis, Gingival overgrowth, Hydrocephalus, Macrocephaly, Gingivitis, Co... OMIM:217090
Melanosis, Neurocutaneous
Death in infancy, Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Van Den Ende-Gupta Syndrome
High, narrow palate, Hypoplasia of the maxilla, Joint contracture of the hand, Dental crowding, C... OMIM:600920
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Osteopenia, Erythrodontia, Hemolytic anemia, Leukopenia, Erythroid hyper... ORPHA:79277
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Abnormal palate morphology, A... ORPHA:100026
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Hypoglycemia, Female pseudohermaphroditism, Adrenal hyperplasia, Ambiguous ge... ORPHA:786
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Retinal detachment OMIM:219250
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Autoinflammatory Disease, Systemic, With Vasculitis
Failure to thrive, Parotitis, Hepatosplenomegaly, Intrauterine growth retardation, Leukocytosis, ... OMIM:620376
Semilobar Holoprosencephaly
Bifid uvula, Growth delay, Failure to thrive, Decreased response to growth hormone stimulation te... ORPHA:220386
Alobar Holoprosencephaly
Bifid uvula, Growth delay, Failure to thrive, Decreased response to growth hormone stimulation te... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Bifid uvula, Growth delay, Failure to thrive, Decreased response to growth hormone stimulation te... ORPHA:93926
Lobar Holoprosencephaly
Bifid uvula, Growth delay, Failure to thrive, Decreased response to growth hormone stimulation te... ORPHA:93924
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Failure to thrive in infancy, Hepatosplenomegaly, Pancyto... ORPHA:79124
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Neonatal death, Hydrocephalus... OMIM:314390
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Joint dislocation, Progressive macrocephaly, Subependymal nodules, Fasting hypo... ORPHA:25
Fish-Eye Disease
Splenomegaly, Corneal opacity ORPHA:79292
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Arthritis, Thrombocytopenia OMIM:152700
Wound Botulism
Mydriasis, Ptosis ORPHA:178475
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Uterus didelphys, Hamartoma of tongue, Septate vagina, Micrognathia, Abse... OMIM:617925
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Secondary microcephaly, Hyperglycemia, Gingival overgrowth, Open mouth, Ankle clonu... OMIM:620423
Lacrimoauriculodentodigital Syndrome
Carious teeth, Micrognathia, Limbal stem cell deficiency, Cryptorchidism, Keratoconjunctivitis, A... ORPHA:2363
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Intrauterine growth retardation, Papilledema, Thrombocytopenia, Small for gestati... OMIM:618775
Sarcoidosis
Dacryocystitis, Cataract, Increased CSF protein concentration, Parotitis, Leukopenia, Enlargement... ORPHA:797
Tetragametic Chimerism
Abnormal cellular immune system morphology, Clitoral hypertrophy, Bifid scrotum, Blood group anti... ORPHA:199310
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hypoglycemia, Lymphopenia, Abnormal lymphocyte morphology,... ORPHA:99826
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Death in infancy, Death in childhood, Thrombocytopenia OMIM:611126
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Overlap Myositis
Rheumatoid arthritis, Limb pain, Leukopenia, Subluxation of the small joints of the hand, Thrombo... ORPHA:206572
Infant Botulism
Ptosis, Mydriasis, Keratoconjunctivitis sicca ORPHA:178478
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
Costello Syndrome
Ventriculomegaly, Tracheomalacia, Hypoglycemia, Thick lower lip vermilion, Downslanted palpebral ... OMIM:218040
Cystinosis, Nephropathic
Male hypogonadism, Pigmentary retinopathy, Corneal crystals, Rickets, Delayed skeletal maturation... OMIM:219800
Ophthalmomandibulomelic Dysplasia
Elbow dislocation, Megalocornea, Temporomandibular joint ankylosis, Decreased mobility 3rd-5th fi... OMIM:164900
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Autoimmune hemolytic anemia, Recurrent sinusitis OMIM:616576
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Diaphragmatic Hernia 4, With Cardiovascular Defects
Downslanted palpebral fissures, Micrognathia, Cryptorchidism, Macrocephaly, Coronal cleft vertebr... OMIM:620025
Yunis-Varon Syndrome
Micrognathia, Cryptorchidism, Anterior concavity of thoracic vertebrae, Agenesis of corpus callos... OMIM:216340
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Death in infancy, Communicating hydrocephalus, Developmental cataract OMIM:600559
Diffuse Alveolar Hemorrhage
Anemia, Weight loss, Leukocytosis, Thrombocytopenia ORPHA:90060
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Foodborne Botulism
Mydriasis, Ptosis ORPHA:228371
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Inhalational Botulism
Mydriasis, Ptosis ORPHA:254504
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... OMIM:616329
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cryptorchidism, Death in childhood, Neonatal death, Absent eyelashes, Absent eyebrow, Hypospadias... OMIM:308205
Relapsing Fever
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia ORPHA:91547
Acute Radiation Syndrome
Cataract, Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Oral ulcer, Thrombocytopenia, Arthritis ORPHA:93552
Olmsted Syndrome 1
Flexion contracture, Opacification of the corneal stroma, Corneal opacity OMIM:614594
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Brain abscess, Polycythemia, Tongue telangiectasia, Choriocapillaris ... OMIM:600376
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Congenital hip dislocation, Delayed eruption of teeth, Downs... OMIM:606170
Catastrophic Antiphospholipid Syndrome
Microangiopathic hemolytic anemia, Retinal arterial occlusion, Coombs-positive hemolytic anemia, ... ORPHA:464343
Alternating Hemiplegia Of Childhood
Mydriasis, Failure to thrive, Downturned corners of mouth, Thin eyebrow, Exaggerated cupid's bow,... ORPHA:2131
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, CSF pleocytosis ORPHA:540
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida OMIM:207950
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Downturned corners of mouth,... ORPHA:99885
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Carious teeth, Aplastic anemia, Oral leukoplakia, Increased mean cor... OMIM:127550
Osteootohepatoenteric Syndrome
Failure to thrive, Avascular necrosis of the capital femoral epiphysis, Weight loss, Hydrocephalu... OMIM:619377
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Autosomal Dominant Cutis Laxa
Genu recurvatum, Osteopenia, Delayed cranial suture closure, Postnatal growth retardation, Intrau... ORPHA:90348
Hereditary Folate Malabsorption
Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Glossitis,... ORPHA:90045
Laurin-Sandrow Syndrome
Limitation of joint mobility, Downturned corners of mouth, Abnormality of the wrist, Cryptorchidi... ORPHA:2378
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Ventriculomegaly, Retinal coloboma, Hamartoma of tongue, Occipital meningocele, Short neck, Hydro... OMIM:616546
Idiopathic Aplastic Anemia
Gingival bleeding, Bone marrow hypocellularity, Pancytopenia, Retinal hemorrhage, Reticulocytopen... ORPHA:88
Retinoblastoma
Pinealoma, Retinoblastoma, Leukocoria, Vitreous hemorrhage, Leukemia, Retinal calcification, Clef... OMIM:180200
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Splenomegaly, Oral ulcer, Ankle clonus, Neutropenia, Thrombocytopenia, Gingivi... OMIM:308230
Facial Spasm
Anisocoria OMIM:134300
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Hemangioblastoma
Retinal capillary hemangioma, Hydrocephalus ORPHA:252054
Nephronophthisis 18
Retinitis, Hydrocephalus OMIM:615862
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Small for gestational age, Diab... OMIM:618858
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Woodhouse-Sakati Syndrome
Osteopenia, Delayed skeletal maturation, Insulin-resistant diabetes mellitus, Hypogonadism, Decre... ORPHA:3464
Tick-Borne Encephalitis
Stiff neck, Limb pain, Leukopenia, Leukocytosis, Abnormal cranial nerve morphology, Abnormal glos... ORPHA:297
Rutherfurd Syndrome
Opacification of the corneal stroma, Failure of eruption of permanent teeth, Corneal dystrophy, D... OMIM:180900
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Delayed eruption of teeth, Premature loss of primary teeth, Optic nerve compression... ORPHA:667
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Vertebral segmentation defect, Median cleft upper lip, Microcephaly, Orofacia... ORPHA:3186
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Macular edema, Avascular necrosis of the capital femoral epiphysis, Abnormal r... ORPHA:247691
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Leukocytosis, Weight loss, Thrombocytosis ORPHA:134
Tangier Disease
Ectropion, Hepatosplenomegaly, Facial diplegia, Peripheral axonal neuropathy, Thrombocytopenia, C... ORPHA:31150
Dextrocardia
Congenital hip dislocation, Pancreatic hypoplasia, Abnormality of the spleen, Abnormal reproducti... ORPHA:1666
Isotretinoin-Like Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Upslanted palpebral ... ORPHA:2306
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Annular pancreas, Elbow contracture, Ulnar deviation of the wrist, Sclerosis of skull... OMIM:618162
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Fraser Syndrome 3
Small scrotum, Cryptophthalmos, Micrognathia, Hydrocephalus, Stillbirth, Hypoplasia of penis OMIM:617667
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Loeys-Dietz Syndrome 1
Bifid uvula, Ectopia lentis, Retrognathia, Downslanted palpebral fissures, Micrognathia, Malar fl... OMIM:609192
Deafness, X-Linked 7
Ptosis, Telecanthus, Thick eyebrow, Unilateral microphthalmos OMIM:301018
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... ORPHA:158061
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia, Splenomegaly, Microcephaly, Thrombocytopenia, Growth delay OMIM:251880
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Thrombocytopenia, Anemia, Asplenia, Short philtrum, Hypoplast... OMIM:185070
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia... OMIM:603554
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Telangiectasia, Hereditary Hemorrhagic, Type 1
Brain abscess, Polycythemia, Tongue telangiectasia, Conjunctival telangiectasia, Palate telangiec... OMIM:187300
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Failure to thrive, Thrombocytopenia ORPHA:99901
Neonatal Marfan Syndrome
High, narrow palate, Ectopia lentis, Megalocornea, Downslanted palpebral fissures, Decreased test... ORPHA:284979
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Notched primary central incisor, Cleft lip, Failure to thrive, Corneal opacity OMIM:620519
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Optic atrophy, Ventriculomegaly, Failure to thrive, Microcephaly, Hydrocephalus ORPHA:395
Hepatoportal Sclerosis
Hypersplenism, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia ORPHA:64743
Paroxysmal Nocturnal Hemoglobinuria
Impotence, Conjunctival icterus, Glycosuria, Pancytopenia, Leukopenia, Erythroid hyperplasia, Ret... ORPHA:447
Wilson Disease
Sunflower cataract, Chondrocalcinosis, Glycosuria, Kayser-Fleischer ring, Osteomalacia, Decreased... OMIM:277900
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Decreased methylmalonyl-CoA mutase activity, Pancytopenia, Thrombocytopenia, N... OMIM:251100
Serotonin Syndrome
Mydriasis, Abnormality of the autonomic nervous system ORPHA:43116
Oeis Complex
Congenital hip dislocation, Absence of the sacrum, Myelomeningocele, Ambiguous genitalia, female,... OMIM:258040
Hardikar Syndrome
Pigmentary retinopathy, Unilateral cleft lip, Failure to thrive, Hepatosplenomegaly, Cleft soft p... OMIM:301068
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Neuroblastoma
Pathologic fracture, Weight loss, Horner syndrome, Thrombocytopenia, Anemia, Bone pain ORPHA:635
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Hypoglycemia, Hyperglycemia, Ptosis, Growth delay OMIM:615453
Botulism
Mydriasis ORPHA:1267
Dend Syndrome
Downturned corners of mouth, Long philtrum, Bilateral ptosis, Hyperglycemia, Elevated hemoglobin ... ORPHA:79134
Tyrosinemia Type 2
Microcephaly, Malar flattening, Corneal opacity ORPHA:28378
Good Syndrome
Abnormal leukocyte morphology, Ptosis, Thrombocytopenia, Sinusitis, Anemia, Diabetes mellitus ORPHA:169105
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal peripheral nervous system morphology, Spondylolysis, Thalamic hemorrhage, Hip contractur... ORPHA:464321
Dengue Fever
Gingival bleeding, Leukopenia, Thrombocytopenia ORPHA:99828
Scorpion Envenomation
Hyperglycemia, Mydriasis, Glycosuria, Priapism ORPHA:466677
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Myelopathy, Abnormal optic nerve morphology, Peripheral schwannom... ORPHA:637
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft upper lip, Microphthalmia, Anencephaly, Bile duct proliferation, C... OMIM:611561
Hypoplasminogenemia
Periodontitis, Abnormality of the ovary, Gingival overgrowth, Abnormal fallopian tube morphology,... ORPHA:722
Immunodeficiency 22
Failure to thrive, Decreased proportion of CD4-positive helper T cells, Abscess, Retinal vasculit... OMIM:615758
Abetalipoproteinemia
Osteopenia, Failure to thrive, Hypopigmentation of the fundus, Acanthocytosis, Reticulocytosis, A... ORPHA:14
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Papilledema, Hydrocephalus OMIM:260500
Gaucher Disease, Type Iiic
Hydrocephalus, Pancytopenia, Opacification of the corneal stroma, Splenomegaly OMIM:231005
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal optic nerve morphology, Abnormality of the submandibular gland... ORPHA:79078
Holoprosencephaly 1
Alobar holoprosencephaly, Hypoglycemia, Median cleft palate, Agenesis of corpus callosum, Median ... OMIM:236100
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Female sexual dysfunction, Bifid scrotum, Abn... ORPHA:322
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Optic atrophy, Retinopathy, Microcephaly, Cachexia, Hydrocephalus, Short stature ORPHA:220295
Lhermitte-Duclos Disease
Macroglossia, Ovarian neoplasm, Hydrocephalus, Macrocephaly ORPHA:65285
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Postural hypotension with compensatory tachycardia, Osteomyelitis, Corneal scarring, R... OMIM:256800
Alpha-Thalassemia
Cholelithiasis, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Microcytic anemia, Mala... ORPHA:846
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Hip dislocation, Shallow acetabular fossae, Aplastic anemia, Limited pronation/supination of fore... OMIM:605432
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification, Odontogenic keratocysts of the jaw ORPHA:314473
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Galactosialidosis
Severe short stature, Cherry red spot of the macula, Hepatosplenomegaly, Conjunctival telangiecta... OMIM:256540
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Type I diabetes mellitus, Delayed skeletal maturation, Lymphopenia, Hepatosplenomegal... ORPHA:391487
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Increased CSF lactate, High palate, Microphthalmia OMIM:619053
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Decreased body weight, Thrombocytopenia, Neutropenia, Anemia, Small f... ORPHA:90051
Oxoglutaric Aciduria
Short stature, Abnormal salivary gland morphology, Abnormality of Krebs cycle metabolism, Hydroce... ORPHA:31
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Meckel Syndrome, Type 6
Occipital encephalocele, Cleft upper lip, Absent gallbladder, Hydrocephalus, Abnormal internal ge... OMIM:612284
Alport Syndrome 1, X-Linked
Anterior lenticonus, Lenticonus, Developmental cataract, Thrombocytopenia, Hypoparathyroidism, Co... OMIM:301050
Congenital Disorder Of Glycosylation, Type Iiw
Type I diabetes mellitus, Failure to thrive, Microcytic anemia, Ankyloglossia, Micrognathia, Sple... OMIM:619525
Fraser Syndrome 2
Cryptophthalmos, Narrow mouth, Hypoplasia of the thymus, Short neck, Ambiguous genitalia, Microph... OMIM:617666
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Clitoral hypertrophy, Long penis, Failure to thri... ORPHA:508
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia, Growth delay OMIM:616433
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Parotitis, Stiff neck, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, O... ORPHA:99827
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria OMIM:618857
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia ORPHA:231111
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Cleft palate, Bile duct proliferation, Dandy-Walker malfo... OMIM:607361
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Failure to thrive, Hypoglycemia, Increased CSF lactate, Hyperglycemia, Per... OMIM:220111
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Mild postnatal growth retardation, Re... OMIM:224120
Mucoepithelial Dysplasia, Hereditary
Cataract, Erythematous oral mucosa, Furrowed tongue, Corneal neovascularization, Keratoconjunctiv... OMIM:158310
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Ventriculomegaly, Hypoketotic hypoglycemia, Agenesis of corpus callosum, Hyd... ORPHA:228308
Iniencephaly
Rhizomelia, Absent vertebra, Spinal dysraphism, Myelomeningocele, Narrow mouth, Encephalocele, An... ORPHA:63259
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Increased bone mineral density, Refrac... OMIM:231095
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Hydrocephalus, Bifid uterus, ... ORPHA:2736
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Absent brainstem auditory responses, Growth delay, Hypochromic microcytic anemia ORPHA:3240
Gelatinous Drop-Like Corneal Dystrophy
Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit... ORPHA:98957
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior synechiae of the anterior chamber, Retinal vasculitis, Weight loss, Cataract, Choroidal... ORPHA:91500
Bacterial Toxic-Shock Syndrome
Septic arthritis, Osteomyelitis, Abscess, Increased circulating myelocyte count, Thrombocytopenia... ORPHA:36234
Liver Disease, Severe Congenital
Pancreatic hypoplasia, Failure to thrive, Leukopenia, Micrognathia, Macrocephaly at birth, Spleno... OMIM:619991
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... ORPHA:158048
Basal Cell Nevus Syndrome 2
Neurofibroma, Hydrocephalus, Macrocephaly OMIM:620343
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Congenital thrombocytopenia, Death in infancy OMIM:618886
Medulloblastoma
Delayed cranial suture closure, Abnormal cranial nerve morphology, Progressive macrocephaly, Hydr... ORPHA:616
Lysinuric Protein Intolerance
Hemophagocytosis, Delayed skeletal maturation, Failure to thrive, Leukopenia, Splenomegaly, Throm... OMIM:222700
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cataract, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Neonatal death,... OMIM:124000
Gaucher Disease, Type Ii
Failure to thrive, Splenomegaly, Death in infancy, Thrombocytopenia, Trismus, Anemia OMIM:230900
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Failure to thrive, Leukopenia, Splenomegaly, Death in infanc... OMIM:300972
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Osteopenia, Rickets, Glycosuria, Failure to thrive, Growth delay, Fas... ORPHA:2088
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Failure to thrive, Thrombocytopenia OMIM:619693
Multiple System Atrophy 1, Susceptibility To
Iris atrophy, Ptosis, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Impo... OMIM:146500
Idiopathic Hypereosinophilic Syndrome
Ankle swelling, Failure to thrive, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly... ORPHA:3260
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Carnitine Palmitoyltransferase Ii Deficiency
Hypoketotic hypoglycemia, Hydrocephalus, Agenesis of corpus callosum ORPHA:157
Lipodystrophy, Familial Partial, Type 2
Enlarged peripheral nerve, Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hypergl... OMIM:151660
Hydrocephaly-Low Insertion Umbilicus Syndrome
Epicanthus, Communicating hydrocephalus, Patent ductus arteriosus ORPHA:2184
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventriculomegaly, Failure to thrive, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocy... OMIM:618278
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... OMIM:300835
Aicardi-Goutieres Syndrome 7
Pancytopenia, Intrauterine growth retardation, Splenomegaly, Microcephaly, Weight loss, Primary m... OMIM:615846
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Lujo Hemorrhagic Fever
Stiff neck, Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:319213
Adams-Oliver Syndrome 1
Imperforate hymen, Ventriculomegaly, Cleft upper lip, Supernumerary nipple, Encephalocele, Microc... OMIM:100300
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Joint stiffness, Irido... OMIM:613195
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Ketotic hypoglycemia, Short stature ORPHA:2089
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:293987
Familial Thoracic Aortic Aneurysm And Aortic Dissection
High, narrow palate, Abnormality iris morphology, Retrognathia, Scoliosis, Patent ductus arteriosus ORPHA:91387
Loeys-Dietz Syndrome 2
Bifid uvula, Joint contracture of the hand, Ectopia lentis, Retrognathia, Micrognathia, Protrusio... OMIM:610168
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Stomatitis OMIM:246400
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Macronodular adrenal hyperplasia, Increased body weight, Abdominal obesity, Osteop... OMIM:615954
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Treacher Collins Syndrome 1
Sparse lower eyelashes, Bilateral microphthalmos, Downslanted palpebral fissures, Micrognathia, C... OMIM:154500
Ebola Hemorrhagic Fever
Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:319218
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Gaucher Disease Type 3
Delayed skeletal maturation, Pancytopenia, Splenomegaly, Increased susceptibility to fractures, D... ORPHA:77261
Immunodeficiency 87 And Autoimmunity
Growth delay, Lymphopenia, Decreased CD4:CD8 ratio, Intrauterine growth retardation, Autoimmune h... OMIM:619573
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Macroglossia, Neonatal hypoglycemia, Hydrocephalus OMIM:261740
Q Fever
Granuloma, Osteomyelitis, Hepatosplenomegaly, Splenomegaly, Weight loss, Thrombocytopenia, Anemia ORPHA:781
Lymphangioleiomyomatosis
Optic atrophy, Hydrocephalus, Retinal hamartoma, Abnormal morphology of female internal genitalia ORPHA:538
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Hydrocephalus, Perineal fistula ORPHA:3016
Hellp Syndrome
Microangiopathic hemolytic anemia, Hemolytic anemia, Increased body weight, Thrombocytopenia, Dec... ORPHA:244242
Arachnoiditis
Hydrocephalus ORPHA:137817
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia, Menorrhagia OMIM:620484
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Cataract, Opacification of the corneal stroma, Adrenal hyperplasia ORPHA:3453
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Thoracoabdominal Syndrome
Cleft upper lip, Anencephaly, Hydrocephalus, Hypospadias, Patent ductus arteriosus, Cleft palate OMIM:313850
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Caroli Syndrome
Conjunctival icterus, Hypersplenism, Leukopenia, Leukocytosis, Thrombocytopenia, Abnormal ductus ... ORPHA:480520
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Vexas Syndrome
Thrombocytopenia, Arthritis, Macrocytic anemia OMIM:301054
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:274150
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Townes-Brocks Syndrome 1
Small for gestational age, Bifid scrotum, Chorioretinal coloboma, Cryptorchidism, Microcephaly, H... OMIM:107480
Lysinuric Protein Intolerance
Osteopenia, Hemophagocytosis, Delayed skeletal maturation, Failure to thrive, Decreased response ... ORPHA:470
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:235400
Cole Disease
Abnormality of the dentition, Hyperglycemia OMIM:615522
Kikuchi-Fujimoto Disease
Leukopenia, Enlargement of parotid gland, Splenomegaly, Oral ulcer, Lymphocytosis, Weight loss, N... ORPHA:50918
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Conjunctival icterus, Increased mean corpuscular hemoglobin concentration, Spleno... OMIM:194380
Systemic Lupus Erythematosus
Leukopenia, Retinopathy, Oral ulcer, Abnormal pigmentation of the oral mucosa, Weight loss, Throm... ORPHA:536
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... OMIM:601399
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Wiskott-Aldrich Syndrome
Gingival bleeding, Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, ... OMIM:301000
Thoracic Dysplasia-Hydrocephalus Syndrome
Short stature, Communicating hydrocephalus ORPHA:1861
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Hydrocephalus, Cleft palate OMIM:243440
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia ORPHA:457077
Cocaine Intoxication
Mydriasis ORPHA:90068
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Thrombocytopenia 6
Osteoporosis, Thrombocytopenia OMIM:616937
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Generalized Arterial Calcification Of Infancy
Choroidal neovascularization, Osteomalacia, Failure to thrive in infancy, Abnormal hip joint morp... ORPHA:51608
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Rickets, Glycosuria, Failure to thrive, Osteomalacia, Postnatal growt... OMIM:227810
Castleman Disease
Anemia, Decreased mean corpuscular volume, Weight loss, Thrombocytopenia ORPHA:160
Sacral Defect With Anterior Meningocele
Dermal sinus tract, Absence of the sacrum, Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal ... OMIM:600145
Isolated Posterior Meningocele
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, ... ORPHA:268810
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612925
Neuroleptic Malignant Syndrome
Leukocytosis, Abnormal autonomic nervous system physiology, Thrombocytopenia, Thrombocytosis ORPHA:94093
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612924
Collagenoma, Familial Cutaneous
Primary testicular failure, Iris atrophy OMIM:115250
Plague
Mydriasis, Chapped lip, Splenomegaly, Conjunctival hyperemia, Arthritis, Glossitis, Abnormality o... ORPHA:707
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis, Patent ductus arteriosus OMIM:619351
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Hemolytic anemia, Leukocytosis, Thrombocytopenia, Septic arthritis, Diabetes mellitus ORPHA:544482
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Hyperglycemia, Intrauterine growth retardation, Absent g... OMIM:615710
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Decreased body weight, Thrombocytopenia, Anemia, Back pain ORPHA:340
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Failure to thrive, Lymphocytosis, Thrombocytopenia, Blepharitis OMIM:617718
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Schistocytosis, Thrombocytopenia ORPHA:90038
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Ankyloblepharon, Microphthalmia OMIM:123570
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Blue Rubber Bleb Nevus
Pathologic fracture, Iron deficiency anemia, Thrombocytopenia OMIM:112200
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Glycosuria, Failure to thrive, Cervical ribs, Hyperglycemia, Intrauterine ... OMIM:600001
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... ORPHA:2330
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Leptospirosis
Macular cotton wool spot, Chorioretinitis, Conjunctival hyperemia, Optic neuritis, Papilledema, T... ORPHA:509
Retinitis Pigmentosa 97
Macular degeneration, Rod-cone dystrophy, Iris atrophy OMIM:620422
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Cholelithiasis, Delayed skeletal maturation, Cherry red spot of the macula, Pathologi... ORPHA:77293
Tuberous Sclerosis Complex
Chorioretinal hypopigmentation, Pituitary adenoma, Pheochromocytoma, Retinal astrocytic hamartoma... ORPHA:805
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Dermochondrocorneal Dystrophy
Joint subluxation, Anterior cortical cataract, Gingival overgrowth, Irregular tarsal ossification... OMIM:221800
Ciliary Dyskinesia, Primary, 43
Chronic sinusitis, Noncommunicating hydrocephalus OMIM:618699
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Normochromic anemia OMIM:254900
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te... ORPHA:273
Apolipoprotein A-I Deficiency
Xanthelasma, Opacification of the corneal stroma ORPHA:425
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Micrognathia, Hypersplenism, Splenomegaly, Biliary hyperplasia, Thrombocytope... ORPHA:731
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Congenital thrombocytopenia, Intermittent throm... OMIM:313900
Isolated Arrhinia
Microphthalmia, Hypoplasia of the nasal bone, Eyelid coloboma ORPHA:1134
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Truncal obesity, Abdominal obesity OMIM:615812
Yellow Fever
Pancreatic hyperplasia, Leukocytosis, Low back pain, Thrombocytopenia, Neutrophilia ORPHA:99829
Holt-Oram Syndrome
Elbow dislocation, Long philtrum, Cleft soft palate, Micrognathia, Limited elbow extension, Thora... OMIM:142900
Acute Liver Failure
Hypoglycemia, Thrombocytopenia ORPHA:90062
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Obesity, Weight loss ORPHA:79102
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lip telangiectasia, Opacification of the corneal stroma, Telangiectasia of the oral mucosa, Thick... ORPHA:79280
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650

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 Slx4

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 Slx4.

There are 11 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Slx4iptm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Slx4iptm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Slx4tm1a(EUCOMM)Wtsi Slx4tm1a(EUCOMM)Wtsi Slx4iptm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Slx4iptm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Slx4iptm1a(EUCOMM)Wtsi PMC5827107
Fan1 deficiency results in DNA interstrand cross-link repair defects, enhanced tissue karyomegaly, and organ dysfunction. Genes & development (March 2016) Slx4tm1a(EUCOMM)Wtsi PMC4803051
Mouse SLX4 is a tumor suppressor that stimulates the activity of the nuclease XPF-ERCC1 in DNA crosslink repair. Molecular cell (April 2014) Slx4tm1a(EUCOMM)Wtsi PMC4017094
Conditional inactivation of the DNA damage response gene Hus1 in mouse testis reveals separable roles for components of the RAD9-RAD1-HUS1 complex in meiotic chromosome maintenance. PLoS genetics (February 2013) Slx4tm1a(EUCOMM)Wtsi PMC3585019
Genotoxic consequences of endogenous aldehydes on mouse haematopoietic stem cell function. Nature (August 2012) Slx4tm1a(EUCOMM)Wtsi 22922648
Mammalian BTBD12 (SLX4) protects against genomic instability during mammalian spermatogenesis. PLoS genetics (June 2011) Slx4tm1a(EUCOMM)Wtsi PMC3107204
Disruption of mouse Slx4, a regulator of structure-specific nucleases, phenocopies Fanconi anemia. Nature genetics (January 2011) Slx4tm1a(EUCOMM)Wtsi PMC3624090

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
Slx4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Slx4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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