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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.

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland 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
Abnormal eyelid morphology, Micrognathia, Reduced bone mineral density, Leukopenia, High palate, ... ORPHA:84
Fanconi Anemia, Complementation Group P
Pancytopenia, Short stature, Microcephaly, Micrognathia, Cryptorchidism, Chromosomal breakage ind... 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
Anophthalmia, Anterior pituitary hypoplasia, Sclerocornea, Hemivertebrae, Micropenis, Agenesis of... OMIM:206900
Martsolf Syndrome 2
Cataract, Hypogonadotropic hypogonadism, Short stature, Camptodactyly of finger, Microcephaly, De... OMIM:619420
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Short stature, External genital hypoplasia, Kyphoscoliosis, Microcephal... OMIM:600118
Cach Syndrome
Premature ovarian insufficiency, Cataract, Microcephaly, T2 hypointense thalamus, Flexion contrac... ORPHA:135
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Epicanthus, Small scrotum, Anophthalmia, Anterior pituitary hypoplasia, Shor... ORPHA:264200
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypoglycemia, Short stature, Camptodactyly of finger, Mi... ORPHA:48431
Pierpont Syndrome
Joint laxity, Smooth philtrum, Telecanthus, Thin upper lip vermilion, Small for gestational age, ... ORPHA:487825
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation de... OMIM:611209
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Chorioretinal dysplasia, Microcornea, Abnormal optic nerve mor... ORPHA:899
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Trisomy 13
Anophthalmia, High, narrow palate, Intrauterine growth retardation, Iris coloboma, Abnormal eyela... ORPHA:3378
Gorlin Syndrome
Mandibular prognathia, Vertebral fusion, Epicanthus, Telecanthus, Hypogonadotropic hypogonadism, ... ORPHA:377
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Hydrocephalus, Pate... ORPHA:77298
Microcephaly-Microcornea Syndrome, Seemanova Type
Epicanthus, Cataract, Short stature, Microcephaly, Upslanted palpebral fissure, Microcornea, Grow... ORPHA:2528
Cofs Syndrome
Abnormality of retinal pigmentation, Prominent metopic ridge, Cataract, Short stature, Camptodact... ORPHA:1466
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Hydrocephalus, Hemiv... ORPHA:85284
Cerebrooculofacioskeletal Syndrome 1
Micrognathia, Flexion contracture, Knee flexion contracture, Death in childhood, Agenesis of corp... OMIM:214150
Pierpont Syndrome
Short neck, Microcornea, Abnormal peripheral nervous system morphology, Widely spaced teeth, Micr... OMIM:602342
Oculocerebrocutaneous Syndrome
Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Orbital cyst, Cl... OMIM:164180
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Redu... OMIM:617052
Kbg Syndrome
Vertebral fusion, Telecanthus, Persistent open anterior fontanelle, Short stature, Thin upper lip... ORPHA:2332
Bilateral Striopallidodentate Calcinosis
Ventriculomegaly, Corneal opacity, Microcephaly, Intrauterine growth retardation, Thrombocytopenia ORPHA:1980
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Micropenis, Agenesis of corpus callosum, Hypospadias, Short stature, Cryptorchidism, ... OMIM:301056
Fanconi Anemia, Complementation Group S
Chromosome breakage, Epicanthus, Short stature, Macrodontia, Microcephaly, Dental malocclusion, N... OMIM:617883
Microphthalmia, Syndromic 12
Anophthalmia, Micrognathia, Cryptorchidism, Cleft palate, Bicornuate uterus, Neonatal death, Micr... OMIM:615524
N Syndrome
Cryptorchidism, Abnormality of chromosome stability, Hypospadias OMIM:310465
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Joint laxity, Hypospadias, Highly arched eyebrow, Microcephaly, Synophr... OMIM:617751
1Q21.1 Microduplication Syndrome
Cataract, Hypospadias, Cryptorchidism, Hydrocephalus, Hip dislocation, Macrocephaly, Arthrogrypos... ORPHA:250994
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Thoracic scoliosis, Cataract, Short stature, Macular atrophy, Microcephaly, Mi... OMIM:616171
Fanconi Anemia, Complementation Group O
Neonatal death, Chromosome breakage, External genital hypoplasia, Cryptorchidism OMIM:613390
Cockayne Syndrome Type 2
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Kyphosis,... ORPHA:90322
Adams-Oliver Syndrome 2
Microcephaly, Micrognathia, Hydrocephalus, Optic atrophy, Developmental cataract, Narrow palpebra... OMIM:614219
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Short neck, Abnormality of the spleen, Synophrys, Deep philtru... ORPHA:2162
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Retinal dystrophy, Cataract, Sclerocornea, Microcephaly, Cryptorchidism, Microcorne... ORPHA:139471
Aarskog-Scott Syndrome
Genu recurvatum, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Megalocornea, Abnormal v... ORPHA:915
Baraitser-Winter Syndrome 1
Short neck, Orofacial cleft, Chorioretinal coloboma, Micropenis, Agenesis of corpus callosum, Iri... OMIM:243310
Cockayne Syndrome Type 1
Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Uveitis, Widely spaced ... ORPHA:90321
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Micropenis, Wide mouth, Lateral ventricle dilatation OMIM:300982
16Q24.3 Microdeletion Syndrome
Smooth philtrum, Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, Cryptorchidism, Kyp... ORPHA:261250
Proteus-Like Syndrome
Communicating hydrocephalus, Retinal detachment, Thymus hyperplasia, Cataract, Genu recurvatum, M... ORPHA:2969
Fanconi Anemia, Complementation Group B
Death in infancy, Abnormality of chromosome stability, Optic disc hypoplasia, Hypergonadotropic h... OMIM:300514
Holoprosencephaly 5
Syntelencephaly, Microcephaly, Alobar holoprosencephaly, Synophrys, Hydrocephalus, Deep philtrum,... OMIM:609637
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Bicoronal synostosis, Optic nerve hypoplasia, Delayed closure of the anterior fontanelle, Microce... OMIM:618736
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Hypospadias, Short stature, Patent ductus arteriosus, Lateral ventricle... OMIM:618330
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Koolen-De Vries Syndrome
High, narrow palate, Vertebral segmentation defect, Microdontia, Vertebral fusion, Hypospadias, S... ORPHA:96169
Alg2-Cdg
Epicanthus, Cataract, Microcephaly, Lateral ventricle dilatation, Downslanted palpebral fissures,... ORPHA:79326
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Fanconi Anemia, Complementation Group I
Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Mic... OMIM:609053
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Epicanthus, Microcephaly, Optic atrophy, Upslanted palpebral fissure, Ir... OMIM:620086
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Lateral ventricle dilatation, Open mouth OMIM:616816
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Chorioretinal dysplasia, Micrognathi... ORPHA:534
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Epicanthus, Cataract, Tented upper lip vermilion, Microcephaly, Retinal pigment epithelial mottli... OMIM:614105
Ataxia-Telangiectasia
Lymphopenia, Abnormality of chromosome stability, Diabetes mellitus, Short stature, Polycystic ov... ORPHA:100
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Microcephaly, Decreased nerve conduction velocity, Cryptorchidism, Increased C... ORPHA:565624
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Microphthalmia With Limb Anomalies
Anophthalmia, Deep philtrum, Camptodactyly of 2nd-5th fingers, High palate, Cleft upper lip, Abno... OMIM:206920
Fanconi Anemia
Abnormal eyelid morphology, Micrognathia, Reduced bone mineral density, Leukopenia, High palate, ... ORPHA:84
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Microcornea, Male urethra... ORPHA:464738
Short Syndrome
Telecanthus, Diabetes mellitus, Corneal opacity, Posterior embryotoxon, Severe short stature, Abn... ORPHA:3163
Vacterl With Hydrocephalus
Absence of the sacrum, Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchid... ORPHA:3412
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom... OMIM:611638
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Microcephaly, Thrombocytopenia, Growth delay, Neutropenia, M... OMIM:614082
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Koolen-De Vries Syndrome
High palate, Widely spaced teeth, Iris hypopigmentation, Vertebral fusion, Prominent metopic ridg... OMIM:610443
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Microcephaly, Crypto... OMIM:619244
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Bainbridge-Ropers Syndrome
Dental crowding, Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of th... OMIM:615485
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Short stature, Microcephaly, Azoospermia, Infertility, Scoliosis, Holop... ORPHA:1445
Trisomy 1Q
Microretrognathia, Small scrotum, Anophthalmia, Camptodactyly of finger, Cryptorchidism, Hydrocep... ORPHA:261344
Aicardi Syndrome
Chorioretinal lacunae, Partial agenesis of the corpus callosum, Hemivertebrae, Dilated third vent... OMIM:304050
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
3Q29 Microdeletion Syndrome
Cataract, Hypospadias, Dental crowding, Microcephaly, Abnormality of the dentition, Patent ductus... ORPHA:65286
Malan Overgrowth Syndrome
Optic disc pallor, Optic disc hypoplasia, Accelerated skeletal maturation, Narrow mouth, Lateral ... ORPHA:420179
Cerebrooculonasal Syndrome
Anophthalmia, Downturned corners of mouth, High palate, Iris coloboma, Dandy-Walker malformation,... OMIM:605627
Noonan Syndrome 14
Epicanthus, Lacrimal duct stenosis, Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Ky... OMIM:619745
Warburg Micro Syndrome 3
Small scrotum, Micrognathia, Flexion contracture, Microcornea, Downturned corners of mouth, Micro... OMIM:614222
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Proboscis Lateralis
Anophthalmia, External genital hypoplasia, Abnormal morphology of bony orbit of skull, Orofacial ... ORPHA:141099
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Retinal detachment, Failure to thrive, Cataract, Optic nerve hypoplasia, H... OMIM:620157
Hydrolethalus
Anophthalmia, Micrognathia, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencepha... ORPHA:2189
Chromosome 2P16.1-P15 Deletion Syndrome
High, narrow palate, High palate, Micropenis, Short stature, Cryptorchidism, Joint contracture of... OMIM:612513
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Limb joint contracture, Ankle flexion contracture, Short neck, Cran... ORPHA:284417
Temple Syndrome
Relative macrocephaly, Small for gestational age, Decreased response to growth hormone stimulatio... ORPHA:254516
Galactosialidosis
Cherry red spot of the macula, Abnormality of the vertebral column, Abnormal vertebral morphology... ORPHA:351
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Micrognathia, Cleft palate, Arthrogryposis multiplex congenita, Microphthalmia, Age... OMIM:616570
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Large for gestational age, Microcornea, Microphthalmia, Median cleft palate ORPHA:2432
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Waardenburg Syndrome, Type 1
Mandibular prognathia, Smooth philtrum, Telecanthus, White eyelashes, White eyebrow, Spina bifida... OMIM:193500
Pontocerebellar Hypoplasia, Type 12
Death in infancy, Micrognathia, Lateral ventricle dilatation, Primary microcephaly, Joint contrac... OMIM:618266
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Abnormal eyelid morphology, Micrognathia, Ep... ORPHA:2556
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Cataract, Corneal opacity, Short neck, Open bit... ORPHA:61
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Short stature, Microcephaly, Thro... ORPHA:290
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Abnormal pupil morphology, Sco... ORPHA:101082
Mosaic Trisomy 1
Microretrognathia, Thoracic scoliosis, Camptodactyly of finger, Thick lower lip vermilion, Knee j... ORPHA:1692
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Retinal detachment, Occipital encephalocele, Lumbar hyperlordosis, Cata... ORPHA:370959
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Prader-Willi Syndrome Due To Translocation
External genital hypoplasia, Decreased response to growth hormone stimulation test, Anterior pitu... ORPHA:177907
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Aqueductal stenosis, Synophrys, ... OMIM:619512
Alagille Syndrome
Keratoconus, Corneal dystrophy, Micrognathia, Cryptorchidism, Abnormal pupil morphology, Delayed ... ORPHA:52
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Charge Syndrome
Bifid scrotum, Anophthalmia, Aqueductal stenosis, Hemivertebrae, Eyelid coloboma, Holoprosencepha... ORPHA:138
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypop... ORPHA:496790
2Q24 Microdeletion Syndrome
Cataract, Small for gestational age, Camptodactyly of finger, Short neck, Abnormality iris morpho... ORPHA:1617
Rere-Related Neurodevelopmental Syndrome
Epicanthus, Ventriculomegaly, Hypospadias, Peters anomaly, Postnatal growth retardation, Cryptorc... ORPHA:494344
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Alexander Disease
Death in infancy, Hydrocephalus, Progressive macrocephaly, Death in adolescence, Death in childho... OMIM:203450
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Kyphoscoliosis, Sparse eyebrow,... OMIM:620075
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Temple Syndrome
Relative macrocephaly, Small for gestational age, Short stature, Maturity-onset diabetes of the y... OMIM:616222
Gómez-López-Hernández Syndrome
Telecanthus, Corneal opacity, Short stature, Hydrocephalus, Thin vermilion border ORPHA:1532
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Thrombocytopenia OMIM:209970
Mosaic Trisomy 9
Hypoplasia of penis, Short neck, Asplenia, Micrognathia, Hemivertebrae, High palate, Abnormality ... ORPHA:99776
Cohen Syndrome
Abnormal eyelid morphology, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short p... ORPHA:193
Lig4 Syndrome
Hypoplasia of penis, Epicanthus, Telecanthus, Pancytopenia, Abnormality of chromosome stability, ... ORPHA:99812
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Cataract, Kyphosis, Joint hyperflexibility, Hypogonadism, Cubitus valg... ORPHA:1875
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28, Decreased serum insulin-like growth factor... ORPHA:85327
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Joint laxity, Epicanthus, Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Micrognathi... ORPHA:300570
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Jacobsen Syndrome
Short neck, Micrognathia, Flexion contracture, Microcornea, Clitoral hypoplasia, Eyelid coloboma,... OMIM:147791
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Congenital Hydrocephalus
Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Macrocephaly, Downslanted palpebr... ORPHA:2185
Combined Oxidative Phosphorylation Deficiency 54
Microretrognathia, Optic disc pallor, Epicanthus, Hypergonadotropic hypogonadism, Retrobulbar opt... OMIM:619737
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Death in infancy, Cataract, Cryptorchidism, Secondary microcephaly, Neonatal d... OMIM:613730
Developmental And Epileptic Encephalopathy 36
Microretrognathia, Microcephaly, Hydrocephalus, Flexion contracture, Optic atrophy, Scoliosis, Ma... OMIM:300884
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Wolf-Hirschhorn Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth... OMIM:194190
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membr... OMIM:257850
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Micrognathia, Kyphosis, F... OMIM:618291
Microphthalmia, Syndromic 5
Joint laxity, Ectopic posterior pituitary, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasi... OMIM:610125
Microphthalmia, Syndromic 2
Anophthalmia, Flexion contracture, Microcornea, Oligodontia, Fused teeth, Laterally curved eyebro... OMIM:300166
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Short stature, Patchy osteosclerosis, M... ORPHA:2323
Winchester Syndrome
Arthropathy, Corneal opacity, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, C... OMIM:277950
Distal Deletion 10Q
Micrognathia, High palate, Spina bifida occulta, Prominent metopic ridge, Lumbar hyperlordosis, S... ORPHA:96148
Poems Syndrome
Sclerosis of hand bone, Papilledema, Diabetes mellitus, Sclerosis of foot bone, Weight loss, Scle... ORPHA:2905
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation, Premature ovarian insufficiency OMIM:615889
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Microcephaly, Hydrocephalus, Macrocephaly, Abnormal vertebral morphology, Ventriculomegaly OMIM:618709
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Lateral Meningocele Syndrome
Dental crowding, Short neck, Micrognathia, High palate, Vertebral fusion, Short stature, Cryptorc... OMIM:130720
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Micrognathia, Orbital craniosynostosis, Hydrocephalus, Optic atrophy, Dandy-Walker malformation ORPHA:1538
Emanuel Syndrome
Congenital hip dislocation, Hooded eyelid, Multiple joint contractures, Dental crowding, Microgna... ORPHA:96170
Band Heterotopia
Hydrocephalus, Lateral ventricle dilatation, Macrocephaly, Agenesis of corpus callosum, Ventricul... OMIM:600348
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Sacral dimple, Sparse eyelashes, Large for gestational age, Bilateral cryptorchid... ORPHA:544488
Erythrokeratodermia Variabilis
Diabetes mellitus, Corneal opacity, Cataract, Short stature, Microcephaly, Weight loss, Abnormal ... ORPHA:317
Kniest Dysplasia
Arthropathy, Rhegmatogenous retinal detachment, Enlarged joints, Short neck, Delayed epiphyseal o... ORPHA:485
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey... OMIM:615873
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Thin upper lip vermilion, Upslanted palpebral fissure, Downturned corne... OMIM:613443
X-Linked Intellectual Disability, Wilson Type
Mandibular prognathia, Microcephaly, Hydrocele testis, Growth delay, Lateral ventricle dilatation... ORPHA:85290
2P15P16.1 Microdeletion Syndrome
High palate, Prominent metopic ridge, Facial palsy, Sparse eyebrow, Scoliosis, Narrow mouth, Retr... ORPHA:261349
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Ovarian fibroma, Cat... OMIM:109400
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Microcephaly, Cleft upper lip, ... OMIM:613885
Slc35A2-Cdg
Osteopenia, Failure to thrive in infancy, Short stature, Joint hypermobility, Microcephaly, Preco... ORPHA:356961
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Microcephaly, Partial agenesis of the corpus callosum, Flexion contrac... ORPHA:79243
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Congenital hip dislocation, Small for gestational age, Microcephaly, Mi... ORPHA:3078
Microphthalmia, Syndromic 13
Short stature, Kyphoscoliosis, Microcephaly, Widely-spaced incisors, Microcornea, Chorioretinal c... OMIM:300915
Pontocerebellar Hypoplasia, Type 13
Thin upper lip vermilion, Epicanthus, Macrodontia, Microcephaly, Lateral ventricle dilatation, Lo... OMIM:618606
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal d... OMIM:152950
Fumarase Deficiency
Relative macrocephaly, Decreased fumarate hydratase activity, Polycythemia, Microcephaly, Conjunc... OMIM:606812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Death in infancy, Cataract, Microcephaly, Spinal rigidity, Peters anomaly, Hydroce... OMIM:613150
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Oligozoospermia, Azoospermia, Infertility, Type II diabetes mellitus OMIM:615703
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Bilateral microphthalmos, Microcephaly ORPHA:77299
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Sifrim-Hitz-Weiss Syndrome
Epicanthus, Ventriculomegaly, Hypogonadotropic hypogonadism, Short stature, Wormian bones, Crypto... OMIM:617159
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum, Thrombocytopenia OMIM:166990
Cog5-Cdg
Short stature, Camptodactyly of finger, Short neck, Microcephaly, Cryptorchidism, Retrognathia, H... ORPHA:263487
Meckel Syndrome
Anophthalmia, Sclerocornea, Micrognathia, Asplenia, Microcornea, Dandy-Walker malformation, Acces... ORPHA:564
Weaver Syndrome
Dysharmonic bone age, Mandibular prognathia, Epicanthus, Accelerated skeletal maturation, Cryptor... OMIM:277590
Verheij Syndrome
Joint laxity, Vertebral fusion, Thin upper lip vermilion, Small for gestational age, Optic nerve ... OMIM:615583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Hydrocephalus, Death in childhood, Microphthalmia,... OMIM:613153
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Microcephaly, Chorioretinal atrophy, Optic atrophy, Osteoporosis, Weight loss, ... OMIM:619487
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Iris hypopigmentation, Corneal opacity, Short stature, Microcephaly, Cryptorchidism, Li... ORPHA:2719
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Retinal pigment epithelial mo... OMIM:619517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Microcephaly, Kyphosis, Achille... OMIM:606612
Den Hoed-De Boer-Voisin Syndrome
Smooth philtrum, Delayed eruption of teeth, Ventriculomegaly, Joint hypermobility, Microcephaly, ... OMIM:619229
Distal Deletion 6P
Smooth philtrum, Epicanthus, Posterior embryotoxon, Corneal opacity, Micrognathia, Abnormality of... ORPHA:96125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Micrognathia, Congenital contracture, Retinal dysplasia, Megalocornea, A... OMIM:236670
Craniosynostosis 6
Bicoronal synostosis, Delayed cranial suture closure, Craniosynostosis, Microcephaly, Lateral ven... OMIM:616602
Lowry-Maclean Syndrome
Osteopenia, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, High, narrow palat... ORPHA:2409
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Failure to thrive in infancy, Microcephaly, Thrombocytopenia... ORPHA:858
Spermatogenic Failure 81
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... OMIM:620277
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Chronic neutropenia, Hydrocephalus, Partial agenesis of the corpus callosum, An... OMIM:619302
Hec Syndrome
Communicating hydrocephalus, Abnormal retinal vascular morphology, Abnormal pupil morphology, Vag... ORPHA:2119
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Micrognathia, Deep philtrum, High palate, Medial flaring of the eyebr... OMIM:619833
Fanconi Anemia, Complementation Group C
Epicanthus, Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short statur... OMIM:227645
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Micrognathia, Cryptorchidism, Hydrocephalus, Unilambdoid synostosis... OMIM:618577
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Supernumerary nipple, Micrognathia, Postnatal growth retardation, Cry... OMIM:263750
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Small for gestational age, Short stature, Microcephaly, Cryptorchidism, Death in childhood, Later... OMIM:619847
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Bilateral cleft lip and palate, Cho... ORPHA:1473
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Corneal opacity, Abnormal form of the vertebral bodies, Reduced bone mineral densi... ORPHA:2370
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Optic nerve hypoplasia, Microcephaly OMIM:618890
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Abnormal cerebrospinal fluid morphology, Microcephaly, Wr... ORPHA:448237
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia, Microcephaly OMIM:616335
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, ... ORPHA:1104
Microphthalmia, Syndromic 8
Mandibular prognathia, Microcephaly, Cleft upper lip, Cryptorchidism, Orofacial cleft, Cleft pala... OMIM:601349
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Zellweger Syndrome
Death in infancy, Epicanthus, Posterior embryotoxon, Hypospadias, Abnormal chorioretinal morpholo... ORPHA:912
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hydrocephalus, Obesity, Hypogonadism, Retinal coloboma, Microphthalmia,... OMIM:601794
Ogden Syndrome
Congenital hip dislocation, Maternal diabetes, Abnormal eyelid morphology, Short neck, Micrognath... OMIM:300855
Masa Syndrome
Short stature, Microcephaly, Hyperlordosis, Kyphosis, Hydrocephalus, Macrocephaly, Agenesis of co... OMIM:303350
Mucolipidosis Type Iii
Craniofacial hyperostosis, Short stature, Corneal opacity, Hyperlordosis, Joint stiffness, Abnorm... ORPHA:577
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Micrognathia, Subretinal deposits, Early ossification of capital femoral... ORPHA:397715
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Delayed cranial suture closure, Craniosynostosis, Accelerated skeletal maturation, C... OMIM:175700
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Unilateral cryptorchidism, Optic nerve hypoplasia, Large for gestationa... ORPHA:137634
Pontocerebellar Hypoplasia, Type 1A
Microcephaly, Degeneration of anterior horn cells, Lateral ventricle dilatation, Congenital contr... OMIM:607596
Fanconi Anemia, Complementation Group D2
Reticulocytopenia, Neutropenia, Micropenis, Agenesis of corpus callosum, Short stature, Cryptorch... OMIM:227646
Norrie Disease
Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Uterine rupture, Aplasia/Hypopla... ORPHA:649
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Scoliosis ORPHA:306669
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Hypoglycemia, Supernumerary nipple, Submuco... ORPHA:457279
48,Xxyy Syndrome
Hypoplasia of penis, Abnormal dental enamel morphology, Open bite, Cryptorchidism, Obesity, Azoos... ORPHA:10
Holoprosencephaly 9
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:610829
Triploidy
Hypoplasia of penis, Cataract, Hypospadias, Short neck, Micrognathia, Cryptorchidism, Hydrocephal... ORPHA:3376
Marden-Walker Syndrome
Short neck, Micrognathia, High, narrow palate, Congenital contracture, High palate, Micropenis, A... OMIM:248700
Gabriele-De Vries Syndrome
Telecanthus, Malar flattening, Micrognathia, Sparse eyebrow, Cryptorchidism, Epiblepharon, Thick ... OMIM:617557
Alexander Disease
Osteopenia, Diabetes mellitus, Facial palsy, Short neck, Precocious puberty, Aqueductal stenosis,... ORPHA:58
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Lateral ventricle dilatatio... OMIM:256850
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
Duane Retraction Syndrome
Central heterochromia, Optic disc hypoplasia, Short neck, Micrognathia, Abnormal pupil morphology... ORPHA:233
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Cleft palate, Upslanted palpe... OMIM:615716
Fg Syndrome Type 1
Dental crowding, Micrognathia, Generalized joint laxity, Fused teeth, High palate, Long philtrum,... ORPHA:93932
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Retinal detachment, Joint laxity, Corneal opacity, Short stature, Isosexual precociou... ORPHA:2788
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Orofacial cleft, Developmental cat... ORPHA:324416
Immunodeficiency 54
Chromosome breakage, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:609981
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Anophthalmia, Hypospadias, Cataract, Sclerocornea, Rhizomelia, Precocious puberty, Mi... OMIM:615877
Trichothiodystrophy 5, Nonphotosensitive
Mandibular prognathia, Retinal dystrophy, Optic nerve hypoplasia, Short stature, Microcephaly, Sp... OMIM:300953
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Epicanthus, Retinal dystrophy, Highly arched eyebrow, Pigmentar... OMIM:608629
Xp22.3 Microdeletion Syndrome
Sacral dimple, Hypogonadotropic hypogonadism, Short stature, Decreased fertility, Secondary ameno... ORPHA:1643
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Micrognathia, Lens coloboma, Lateral ventricle dilatation, Joint contractu... OMIM:618914
Fanconi Anemia, Complementation Group F
Sacral dimple, Short stature, Decreased response to growth hormone stimulation test, Microcephaly... OMIM:603467
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:615938
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Telecanthus, Anophthalmia, Abnormal spaced incisors, Synophrys, Long eyelashes, Short philtrum, T... ORPHA:411986
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology, Orofacial cleft ORPHA:141091
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Death in infancy, Lateral ventricle dilatation, Microcephaly OMIM:617668
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Rhizomelia, Short neck, Micrognathia, Downturned corners of mouth, Platyspondyly, Short... ORPHA:93267
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Limitation of joint mobility, Macrocephaly ORPHA:99966
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Telecanthus, Short stature, Highly arched eyebrow, Short neck, Orofacia... OMIM:614583
Martsolf Syndrome 1
Enlarged sylvian cistern, Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, High palat... OMIM:212720
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Abnormally ossified vertebrae, Cataract, Micrognathia, Cryptorchidism, Hyd... ORPHA:3301
Megalencephaly, Autosomal Dominant
Hydrocephalus, Macrocephaly OMIM:155350
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Developmental cataract, Growth delay, Primary microcephaly, Decreased testi... OMIM:601815
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Joint contracture, Microp... OMIM:609029
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Bull's eye maculopathy, Decreased response to growth hor... OMIM:213980
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... ORPHA:91348
8Q21.11 Microdeletion Syndrome
Epicanthus, Hypoplasia of penis, Iris hypopigmentation, Corneal opacity, Sclerocornea, Short neck... ORPHA:284160
Trisomy 9P
Sacral dimple, Dental crowding, Short neck, Microcephaly, Kyphosis, Abnormal pupil morphology, No... ORPHA:236
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:615937
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Camptodactyly of ... ORPHA:1106
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Telecanthus, Rieger anomaly, Short stature, Abnormal auditory evoked potentials, Hypoplasia of th... OMIM:109120
Cornelia De Lange Syndrome 5
Short neck, Micrognathia, Synophrys, Downturned corners of mouth, High palate, Widely spaced teet... OMIM:300882
Congenital Amegakaryocytic Thrombocytopenia
Short stature, Abnormal hemoglobin, Short neck, Thrombocytopenia, Abnormal form of the vertebral ... ORPHA:3319
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Joint laxity, Thin upper lip vermilion, Epicanthus, Hypospadias, Optic nerve hypoplasia, Hyperopi... ORPHA:363686
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Death in infancy, Hypospadias, Corneal opacity, Cryptorchidism, Flexion contracture, Developmenta... OMIM:618815
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Short stature, Hydrocephalus, Obesity, Hypogonadism, ... ORPHA:141333
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Mild postnatal growth retardation, Accelerated skeletal maturation, Hypopl... OMIM:101800
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis ORPHA:1067
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Anophthalmia, Abnormal size of the palpebral fissures, Corneal dystrophy, ... ORPHA:1101
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Smooth philtrum, Thin upper lip vermilion, Sparse eyelashes, Hoode... OMIM:612863
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar hyperlordosis, Small for gestational age, Microcephaly, Bilateral cryptorchidism, Cryptorc... OMIM:617796
Pineocytoma
Hydrocephalus, Increased CSF protein concentration, Abnormal eyelid morphology ORPHA:251912
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Small scrotum, Short stature, Cryptorchidism, Flexion ... OMIM:615663
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... OMIM:609757
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Premature thelarche, Micrognathia, High palate, Mi... OMIM:147920
Noonan Syndrome 4
Epicanthus, Short stature, Large for gestational age, Sparse eyebrow, Cryptorchidism, Bilateral p... OMIM:610733
Fanconi Anemia, Complementation Group R
Microcephaly, Chromosomal breakage induced by crosslinking agents, Hydrocephalus, Agenesis of per... OMIM:617244
Intellectual Developmental Disorder, Autosomal Dominant 56
Thin upper lip vermilion, Upslanted palpebral fissure, Lateral ventricle dilatation, High palate,... OMIM:617854
Cerebrooculonasal Syndrome
Epicanthus, Hypoplasia of penis, Sparse eyelashes, Anophthalmia, Sparse eyebrow, Upslanted palpeb... ORPHA:66625
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Short stature, Spinal instability, Microcephaly OMIM:251250
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Small for gestational age, Cataract, Kyphoscoliosis, Microcephaly, Camptodactyly o... OMIM:610756
Gapo Syndrome
Mandibular prognathia, Dysmenorrhea, Micrognathia, Abnormal form of the vertebral bodies, Decreas... ORPHA:2067
Rabin-Pappas Syndrome
Mandibular prognathia, Retinal detachment, Cataract, Failure to thrive in infancy, Optic nerve hy... OMIM:620155
Smith-Kingsmore Syndrome
Smooth philtrum, Thin upper lip vermilion, Hypoglycemia, Rhizomelia, Large for gestational age, C... OMIM:616638
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Micrognathia, Increased bone mineral density, Short stature, Facial... OMIM:259720
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Epicanthus, Sacral dimple, Short stature, Craniosynostosis, Short neck, Micrognathia, Abnormal or... ORPHA:1516
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Short neck, High, narrow palate, Hydrocephalus, Ob... ORPHA:2183
Glutamine Deficiency, Congenital
Flexion contracture, Subependymal cysts, Lateral ventricle dilatation, Thin vermilion border, Neo... OMIM:610015
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Short stature, Abnormal dental morphology, Hyperlordosis, Short neck, Microcephaly, ... ORPHA:2522
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Vertebral fusion, S... OMIM:139210
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Microcephaly, Cryptorchidism, Orofacial cleft, Microphth... ORPHA:3434
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Epicanthus, Vaginal hernia, Short stature, Abnormal dent... ORPHA:2916
Tatton-Brown-Rahman Syndrome
Epicanthus, Ventriculomegaly, Exaggerated cupid's bow, Optic nerve hypoplasia, Sagittal craniosyn... OMIM:615879
Stromme Syndrome
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Micrognathia, Hyd... OMIM:243605
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Keratoconus Posticus Circumscriptus
Keratoconus, Limited elbow extension and supination, Short neck, Cleft upper lip, Cleft palate, G... OMIM:244600
Pelvis-Shoulder Dysplasia
Micrognathia, Prominent protruding coccyx, Abnormal form of the vertebral bodies, Microcornea, Ir... ORPHA:2839
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Prominence of the premaxilla, Block vert... ORPHA:50
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Elevated hem... OMIM:210900
Lig4 Syndrome
Epicanthus, Pancytopenia, Small for gestational age, Microcephaly, Cryptorchidism, Upslanted palp... OMIM:606593
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short ... OMIM:227650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Flexion contracture, Optic atrophy, Developmental cataract, Pigm... OMIM:613154
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Natal tooth, Cataract, Short stature, Bilateral cryptorchidism, Carious teeth, Devel... OMIM:616395
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Short stature, Kyphoscoliosis, Osteoporosis, Growth delay, Secondary microcephaly, ... OMIM:614727
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Short stature, Microcephaly, ... ORPHA:2510
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Joint laxity, Smooth philtrum, Epicanthus, Hydrocephalus, Progressive macrocephaly, Microphthalmi... OMIM:602501
Microcephaly-Micromelia Syndrome
Craniosynostosis, Short neck, Aqueductal stenosis, Microcephaly, Micrognathia, Humeroradial synos... OMIM:251230
X-Linked Intellectual Disability, Najm Type
Cataract, Optic nerve hypoplasia, Microcephaly, Micrognathia, Optic atrophy, Chorioretinal colobo... ORPHA:163937
Microphthalmia, Lenz Type
Delayed eruption of teeth, Cataract, Hypospadias, Short stature, Camptodactyly of finger, Microce... ORPHA:568
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Ventriculomegaly, Hypospadias, Cataract, Tented upper lip vermilion, Microcephaly, Ky... OMIM:616449
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Oculofaciocardiodental Syndrome
Microcornea, Oligodontia, Fused teeth, Iris coloboma, Highly arched eyebrow, Patent ductus arteri... ORPHA:2712
Trisomy 17P
Hypoplasia of penis, Short neck, Micrognathia, Flexion contracture, Orofacial cleft, High palate,... ORPHA:261290
Temtamy Syndrome
Dental crowding, Highly arched eyebrow, Lens luxation, Ectopia lentis, Micrognathia, Hip dislocat... OMIM:218340
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Epicanthus, Abnormal intervertebral disk morphology, Short stature, Carious teeth, Cryptorchidism... ORPHA:2701
Takenouchi-Kosaki Syndrome
Synophrys, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Hypospadias, Highly ... OMIM:616737
Fanconi Anemia, Complementation Group L
Chromosome breakage, Hypoplastic sacrum, Short neck, Micrognathia, Chromosomal breakage induced b... OMIM:614083
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Long philtrum, Lateral ventricle dilatation, Tented upper lip vermilion, Ptosis OMIM:619972
Otopalatodigital Syndrome Type 2
Micrognathia, Glossoptosis, Oligodontia, Abnormal vertebral segmentation and fusion, Anodontia, E... ORPHA:90652
Chromosome 1Q41-Q42 Deletion Syndrome
Tented upper lip vermilion, Deep philtrum, Vertebral segmentation defect, High palate, Holoprosen... OMIM:612530
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Severe short stature, Block vertebrae, Abnormal od... OMIM:277300
1Q21.1 Microdeletion Syndrome
Epicanthus, Cataract, Short stature, Microcephaly, Cryptorchidism, Hydrocephalus, Patent ductus a... ORPHA:250989
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dental crowding, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Obesity, Lateral... OMIM:617296
Pettigrew Syndrome
Mandibular prognathia, Ventriculomegaly, Microcephaly, Aqueductal stenosis, Hydrocephalus, Flexio... OMIM:304340
Acrofacial Dysostosis 1, Nager Type
Sparse lower eyelashes, Micrognathia, Aqueductal stenosis, Absent lower eyelashes, Abnormality of... OMIM:154400
Neurooculorenal Syndrome
Iris atrophy, Ectopic posterior pituitary, Highly arched eyebrow, Micrognathia, Aqueductal stenos... OMIM:620305
Sandestig-Stefanova Syndrome
Epicanthus, Laterally extended eyebrow, Small for gestational age, Prominent metopic ridge, Highl... OMIM:618804
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormality of the dentition, Abnormal eyelash morphology, Hydrocephalus, Gingivitis, Periodontitis ORPHA:1008
Lissencephaly 4
Short stature, Growth delay, Colpocephaly, Primary microcephaly, Agenesis of corpus callosum OMIM:614019
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Unilateral ptosis, Mandibular prognathia, Thoracic scoliosis, Short neck, Micrognathia, Generaliz... ORPHA:508498
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly ORPHA:300573
2Q31.1 Microdeletion Syndrome
Short neck, Micrognathia, Synophrys, Deep philtrum, Downturned corners of mouth, Vertebral segmen... ORPHA:251014
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Relative macrocephaly, Short stature, Microcephaly, Overweight, Cryptorchidism, Dilated third ven... ORPHA:500055
Abcd Syndrome
White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal auditory evoked potentials, Large... OMIM:600501
3C Syndrome
Hypoplasia of penis, Short neck, Micrognathia, High, narrow palate, Hemivertebrae, Orofacial clef... ORPHA:7
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... OMIM:265000
Khan-Khan-Katsanis Syndrome
Tented upper lip vermilion, Micrognathia, Neutropenia, Joint contracture, Short stature, Highly a... OMIM:618460
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Microceph... OMIM:600901
Myopathy, Tubular Aggregate, 1
Joint contracture, Abnormal pupil morphology, Flexion contracture OMIM:160565
Bilateral Generalized Polymicrogyria
Growth delay, Lateral ventricle dilatation, Short stature, Microcephaly ORPHA:208447
Mucolipidosis Iv
Corneal opacity, Microcephaly, Dysplastic corpus callosum, Optic atrophy, Opacification of the co... OMIM:252650
White-Sutton Syndrome
Mandibular prognathia, Short neck, Micrognathia, Hypoglycemic seizures, Downturned corners of mou... OMIM:616364
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Congenital hip dislocation, Corneal opacity, Cryptorchidism, Hydrocephalus, Oro... ORPHA:1647
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Knee flexion contracture, Microphallus, Agenesis of corpus callosum,... ORPHA:468631
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Microcephaly, Cubitus valgus, Micrognathia, Microdontia, Knee flexion contracture, Upsl... OMIM:619694
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Microcephaly, Cryptorchidism, Optic atrophy, Death in childhood, Intrauterine grow... OMIM:615597
Gm1 Gangliosidosis
Mandibular prognathia, Abnormal form of the vertebral bodies, Cherry red spot of the macula, Shor... ORPHA:354
Mucopolysaccharidosis, Type Vii
Short neck, Accelerated skeletal maturation, Flexion contracture, Widely spaced teeth, Anterior b... OMIM:253220
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Gombo Syndrome
Microphthalmia, Delayed puberty, Microcephaly OMIM:233270
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Short neck, Micrognathia, Micropenis, Agenesis of corpus callosum, Dandy-Walker ma... OMIM:257300
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:604213
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Short stature, Recurrent fractur... ORPHA:53
Mucous Membrane Pemphigoid
Corneal opacity, Gingivitis, Oral mucosal blisters ORPHA:46486
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Persistent open anterior fontanelle, Congenital hip dislocation, Cornea... ORPHA:357058
Knobloch Syndrome 1
Occipital encephalocele, Persistent pupillary membrane, Spina bifida occulta, Attenuation of reti... OMIM:267750
1Q44 Microdeletion Syndrome
Smooth philtrum, Epicanthus, Telecanthus, Optic disc hypoplasia, Short stature, Prominent metopic... ORPHA:238769
Shashi-Pena Syndrome
Thin upper lip vermilion, Epicanthus, Hypoglycemia, Highly arched eyebrow, Accelerated skeletal m... OMIM:617190
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... ORPHA:536471
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Short neck, Micrognathia, Flexion contracture, Knee flexion contractur... OMIM:300868
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea, Thyroid C cell hyperplasia, Delayed eruption of primary teeth, Lacrimal duct atresi... OMIM:300952
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Orbital cyst OMIM:251505
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Mirage Syndrome
Lymphopenia, Hypergonadotropic hypogonadism, Hypospadias, Hypoglycemia, Short stature, Cryptorchi... OMIM:617053
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Synophrys, High palate, Premature l... OMIM:102500
Forsythe-Wakeling Syndrome
Short stature, Microcephaly, Delayed skeletal maturation, Osteoporosis, Growth delay, Decreased b... OMIM:613606
3-Methylglutaconic Aciduria Type 4
Cataract, Hypoglycemia, Microcephaly, Failure to thrive, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med... ORPHA:313892
Larsen Syndrome
Cervical kyphosis, Knee dislocation, Shallow orbits, Spina bifida occulta, Hypoplastic cervical v... OMIM:150250
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Optic atrophy, Growth delay, Microphthalmia, Failure to thrive, Agenesis of corpus ... OMIM:274270
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Verteb... OMIM:178110
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Pathologic fracture, Lateral ventricle dilatation, Peripheral demyelination, Axonal loss OMIM:221770
Microphthalmia, Syndromic 9
Anophthalmia, Short stature, Severe short stature, Micrognathia, Cryptorchidism, Patent ductus ar... OMIM:601186
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Aqueductal stenosis, Abnormal form of the vertebral bodies, Radioulnar synosto... ORPHA:1788
Wt Limb-Blood Syndrome
Pancytopenia, Micrognathia, Cryptorchidism, Retrognathia, Radioulnar synostosis, Joint contractur... OMIM:194350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Retinal dystrophy, Facial palsy, Microcephaly, Hydrocephalus, Flexion contracture, Developmental ... OMIM:613155
Paganini-Miozzo Syndrome
Mandibular prognathia, Downturned corners of mouth, Lateral ventricle dilatation, Thin vermilion ... OMIM:301025
Harel-Yoon Syndrome
Mandibular prognathia, Peripheral axonal neuropathy, Corneal opacity, Micrognathia, Optic atrophy... OMIM:617183
Icf Syndrome
Communicating hydrocephalus, Epicanthus, Abnormality of chromosome stability, Short stature, Abno... ORPHA:2268
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Thin upper lip vermilion, Neonatal hypoglycemia, Thrombocytopenia, Late... ORPHA:572798
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Anisocoria, Male uret... OMIM:613406
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cockayne Syndrome B
Mandibular prognathia, Abnormal peripheral myelination, Ivory epiphyses of the phalanges of the h... OMIM:133540
Schimke Immunoosseous Dysplasia
Osteopenia, Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Thoracic kyphosis, ... OMIM:242900
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Radioulnar synostosis ORPHA:71289
Carpenter Syndrome 1
External genital hypoplasia, Short neck, Micrognathia, Hypoplasia of the maxilla, Microcornea, Hi... OMIM:201000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Cataract, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia OMIM:615181
Dubowitz Syndrome
Aplastic anemia, Micrognathia, Hypoplasia of the iris, High palate, Megalocornea, Iris coloboma, ... OMIM:223370
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Craniosynostosis, Micrognathia, Cryptorchidism, Hydrocephalus, Patent ductus arterio... ORPHA:171839
Fried Syndrome
Hydrocephalus, High palate, Abnormal optic nerve morphology, Short philtrum, Scoliosis ORPHA:85335
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Delayed eruption of... OMIM:113000
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal... OMIM:602535
Short Syndrome
Joint laxity, Delayed eruption of teeth, Telecanthus, Rieger anomaly, Small for gestational age, ... OMIM:269880
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Dental crowding, Short neck, High palate, Ocular anterior segment dys... OMIM:612582
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Cataract, Rhizomelia, Optic nerve hypoplasia, Microcephaly, Micrognathia, Disproporti... OMIM:222765
Dubowitz Syndrome
Abnormality of neutrophils, Micrognathia, High palate, Spina bifida occulta, Hypoparathyroidism, ... ORPHA:235
Kbg Syndrome
Tented upper lip vermilion, Short neck, Epispadias, Synophrys, Widely-spaced maxillary central in... OMIM:148050
Fraser Syndrome 1
Anophthalmia, Dental crowding, Malformed lacrimal duct, Micropenis, Cryptophthalmos, Encephalocel... OMIM:219000
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Conical tooth, Persistence of primary teeth, Optic atrophy, Dental malocclusion, Ectopi... OMIM:618727
Cardiofaciocutaneous Syndrome 4
Joint laxity, Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Optic nerve hypoplasia, ... OMIM:615280
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Alg13-Cdg
Long philtrum, Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Sialidosis Type 2
Short stature, Corneal opacity, Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis, Abnorm... ORPHA:87876
Multiple Sulfatase Deficiency
Smooth philtrum, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Short stature, M... ORPHA:585
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short neck, Micrognathia, Downturned corners of mouth, Thoracic kyphosis, High palate, Abnormal b... ORPHA:163649
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Decreased response to growth hormone stimu... OMIM:618223
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Short neck, Micrognathia, Partial agenesis of the corpus callosum, Delayed epiphyseal ossificatio... OMIM:210710
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Craniosynostosis, Microcephaly, Hydrocephalus, Frontal encephalocele, Opti... ORPHA:1528
Temtamy Syndrome
Telecanthus, Micrognathia, Thick lower lip vermilion, Joint hyperflexibility, Chorioretinal colob... ORPHA:1777
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Clitoral hy... OMIM:268310
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Short stature, Cryptorchidism, ... OMIM:249270
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation te... ORPHA:95613
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Retinal detachment, Ventriculomegaly, Cataract, Remnants of the hyaloid vascular s... OMIM:614643
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CSF lymphocytic ... OMIM:610333
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Abnormal pupi... ORPHA:261552
Trichothiodystrophy
Osteopenia, Joint dislocation, Multiple joint contractures, High, narrow palate, Partial agenesis... ORPHA:33364
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Hydrocephalus, Congenital stationary night blindne... ORPHA:8
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Optic disc pallor, Epicanthus, Smooth philtrum, Short stature, Optic ne... OMIM:300749
Bloom Syndrome
Micrognathia, Uveitis, Male infertility, Decreased proportion of CD4-positive T cells, Premature ... ORPHA:125
Edinburgh Malformation Syndrome
Accelerated skeletal maturation, Brushfield spots, Joint stiffness, Synophrys, Hydrocephalus, Mic... ORPHA:1895
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Short neck, Deep philtrum, High palate, Widely spaced teeth, Bifid uvula, Dandy-Walker malformati... OMIM:617506
Cartilage-Hair Hypoplasia
Short neck, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, Abnormal bone... ORPHA:175
Cousin Syndrome
Short neck, Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Microcornea, ... OMIM:260660
Peroxisome Biogenesis Disorder 2A (Zellweger)
Epicanthus, Cataract, Palpebral edema, Micrognathia, Brushfield spots, Cryptorchidism, Cubitus va... OMIM:214110
De Barsy Syndrome
Osteopenia, Congenital hip dislocation, Generalized joint laxity, High palate, Short stature, Cry... ORPHA:2962
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Chorioretinal coloboma,... OMIM:234100
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Thin upper lip vermilion, Ventriculomegaly, Everted upper lip vermilion, Optic nerve hypoplasia, ... OMIM:618381
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Generalized joi... ORPHA:93357
Vitamin K Antagonist Embryofetopathy
Cataract, Short neck, Hydrocephalus, Myelomeningocele, Punctate vertebral calcifications, Optic a... ORPHA:1914
Squalene Synthase Deficiency
Epicanthus, Hypospadias, Optic nerve hypoplasia, Failure to thrive in infancy, Micrognathia, Bila... OMIM:618156
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, M... ORPHA:363741
2,4-Dienoyl-Coa Reductase Deficiency
Death in infancy, Microcephaly, Hydrocephalus, Optic atrophy, Increased CSF lactate, Colpocephaly... OMIM:616034
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebr... ORPHA:79345
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Microretrognathia, Hydrocephalus, Patent ductus arteriosus, Chorioretin... OMIM:220220
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hyposegmentation of neutrophil nuc... ORPHA:250999
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Hydrocephalus, Corne... ORPHA:87
Spondylo-Ocular Syndrome
Retinal detachment, Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Abnormal interve... ORPHA:85194
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia, Micrognathia, Abnormal optic disc morphology, Micropenis, Bifid uvula, Hypogon... ORPHA:293967
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Pseudo-Torch Syndrome 2
Ventriculomegaly, Microcephaly, Patent ductus arteriosus, Lateral ventricle dilatation, Thrombocy... OMIM:617397
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis, Posterior fusion of lumbosacral vertebrae OMIM:192800
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Optic disc pallor, Cataract, Small for gestational age, Short stature, ... OMIM:619869
Focal Dermal Hypoplasia
Anophthalmia, Congenital hip dislocation, Clitoral hypoplasia, Oligodontia, Chorioretinal colobom... OMIM:305600
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Oculomaxillofacial Dysostosis
Median cleft lip, Corneal opacity, Short stature, Camptodactyly of finger, Abnormal eyelid morpho... ORPHA:1794
Diabetic Embryopathy
Microcephaly, Micrognathia, Cryptorchidism, Hydrocephalus, Abnormal sacrum morphology, Cleft pala... ORPHA:1926
Fryns Syndrome
Tented upper lip vermilion, Hypospadias, Corneal opacity, Aganglionic megacolon, Short neck, Micr... ORPHA:2059
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Short stature, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma ORPHA:281090
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abn... ORPHA:2470
Frontonasal Dysplasia 1
Epicanthus, Cataract, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, A... OMIM:136760
Stt3B-Cdg
Small scrotum, Microcephaly, Cryptorchidism, Optic atrophy, Intrauterine growth retardation, Micr... ORPHA:370924
Lead Poisoning
Delayed eruption of teeth, Decreased female libido, Small for gestational age, Abnormality of the... ORPHA:330015
Aicardi-Goutieres Syndrome 3
CSF lymphocytic pleiocytosis, Hepatosplenomegaly, Progressive microcephaly, Death in childhood, T... OMIM:610329
Chromosome 1P36 Deletion Syndrome, Distal
Synophrys, Orofacial cleft, High palate, Agenesis of corpus callosum, Bifid uvula, Abnormal exter... OMIM:607872
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Telecanthus, Small scrotum, Conical tooth, Abnormality of the dentition, Cryptorch... ORPHA:228390
Monosomy 9Q22.3
Large for gestational age, Short neck, Accelerated skeletal maturation, Orofacial cleft, Long phi... ORPHA:77301
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Cataract, Megaloblastic anemia, Optic atrophy, Growth de... OMIM:222300
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Joint laxity, Hyperextensibility of the finger joints, Abnormal lateral ventricle morphology, Thi... ORPHA:488635
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Osteopenia, Mandibular prognathia, Dental crowding, Knee dislocation, High palate, Joint laxity, ... OMIM:620083
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Transcobalamin Deficiency
Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Morquio Syndrome C
Platyspondyly, Severe short stature, Corneal opacity OMIM:252300
Kabuki Syndrome
Hypoplasia of penis, Hemivertebrae, Abnormal form of the vertebral bodies, Orofacial cleft, Micro... ORPHA:2322
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Pancytopenia, Increased bone mineral density, Osteomyeli... OMIM:259700
H Syndrome
Microcytic anemia, Corneal arcus, Micropenis, Short stature, Cleft upper lip, Delayed skeletal ma... ORPHA:168569
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Cryptorchidism, Bilateral ptosis, ... ORPHA:404440
Otodental Syndrome
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Abnormal dental pulp morp... ORPHA:2791
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Death in infancy, Thin upper lip vermilion, Highly arched eyebrow, Microgn... OMIM:619135
Schimke Immuno-Osseous Dysplasia
Short neck, Neutropenia, Microdontia, Lumbar hyperlordosis, Short stature, Abnormal primary molar... ORPHA:1830
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Diencephalic Syndrome
Cachexia, Hydrocephalus, Long penis, Optic atrophy, Everted lower lip vermilion, Decreased body w... ORPHA:1672
Chromosome 8Q21.11 Deletion Syndrome
Epicanthus, Cataract, Exaggerated cupid's bow, Sclerocornea, Short neck, Micrognathia, Cryptorchi... OMIM:614230
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Chorioretinal dysplasia, Abnormal eyelid morphology, Abnormal optic nerve morpholog... ORPHA:2526
Bartsocas-Papas Syndrome
Median cleft lip, Corneal opacity, Microcephaly, Micrognathia, Narrow mouth, Ankyloblepharon, Cle... ORPHA:1234
Edinburgh Malformation Syndrome
Death in infancy, Accelerated skeletal maturation, Hydrocephalus, U-Shaped upper lip vermilion, F... OMIM:129850
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Micrognathia, Macrocephaly OMIM:600721
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Microcephaly, Lateral vent... OMIM:619278
Woolly Hair Nevus
Precocious puberty, Widely-spaced incisors, Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Short stature, Opacificat... OMIM:270200
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Failure of eruption of ... ORPHA:2250
Charge Syndrome
Anophthalmia, External genital hypoplasia, Decreased response to growth hormone stimulation test,... OMIM:214800
Distal Triplication 15Q
Telecanthus, Abnormal external genitalia, Corneal dystrophy, Craniosynostosis, Large for gestatio... ORPHA:314588
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Micrognathia, High palate, Short ... OMIM:619148
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Cataract, Severe short stature, Camptodactyly of finger,... ORPHA:2635
Hurler Syndrome
Corneal opacity, Short stature, Short neck, Joint stiffness, Bilateral ptosis, Hydrocephalus, Hyp... OMIM:607014
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Epicanthus, Pancytopenia, Microcephaly, Thrombocytopenia, Hydrocephalus, Spleno... OMIM:614576
Kapur-Toriello Syndrome
Cataract, Camptodactyly of finger, Short neck, Cleft upper lip, Cryptorchidism, Patent ductus art... OMIM:244300
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Narrow mouth, Fl... OMIM:614833
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia, Abnormalit... OMIM:307500
Lathosterolosis
Hypoplasia of penis, Micrognathia, Microcornea, Downturned corners of mouth, High palate, Biparie... ORPHA:46059
Fanconi Anemia, Complementation Group P
Pancytopenia, Short stature, Microcephaly, Micrognathia, Cryptorchidism, Chromosomal breakage ind... OMIM:613951
Atelis Syndrome 1
Cataract, Carious teeth, Lumbar kyphosis, Anemia, Leukopenia, High palate, Long philtrum, Downsla... OMIM:620184
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Microcornea, Eyelid coloboma, Agenesis of corp... ORPHA:2308
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Mucopolysaccharidosis Type 1
Joint dislocation, Sinusitis, Corneal opacity, Short stature, Joint stiffness, Splenomegaly, Hydr... ORPHA:579
Lamb-Shaffer Syndrome
Epicanthus, Mild postnatal growth retardation, Microcephaly, Micrognathia, Optic atrophy, Decreas... ORPHA:530983
Fibular Hemimelia
Joint laxity, Anophthalmia, Decreased hip abduction, Spina bifida, Craniosynostosis, Joint stiffn... ORPHA:93323
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... OMIM:278760
Fryns Microphthalmia Syndrome
Anophthalmia, Bilateral cleft lip and palate, Neural tube defect, Abnormality of the vertebral co... OMIM:600776
Chromosome 19P13.13 Deletion Syndrome
Optic nerve hypoplasia, Microcephaly, Optic atrophy, Macrocephaly, Downslanted palpebral fissures... OMIM:613638
Dermoids Of Cornea
Corneal opacity OMIM:304730
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Micrognathia, Aqueductal stenosis, Splenomegaly, Upslanted palpebr... ORPHA:3035
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Cleft palate, Abnormality of the vertebral ... ORPHA:2345
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Death in infancy, Patent ductus arteriosus, Vertebral segmentati... OMIM:618845
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Agenesis of corpus callosum, Chronic neutropenia, Thrombocytopenia OMIM:619301
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Delayed vertebral ossification, Thoracic kyphoscoliosis, Small for gestational age, Ky... OMIM:613330
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology, Sparse lateral eyebrow ORPHA:170
Infantile Sialic Acid Storage Disease
Osteopenia, Epicanthus, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Gingival overgrowth,... OMIM:269920
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Micrognathia, High palate, Agenesis of corpus callosum, Deat... OMIM:614866
Maternal Uniparental Disomy Of Chromosome 6
Ventriculomegaly, Clitoral hypertrophy, Miscarriage, Cleft upper lip, Cleft palate, Hydrocele tes... ORPHA:96181
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of eyelid, Retinal dystrophy, Optic nerve hypoplasia, Microcephaly, Short stature, Cle... OMIM:619321
Central Precocious Puberty In Male
Abnormality of the testis size, Accelerated skeletal maturation, Pituitary microadenoma, Hydrocep... ORPHA:649929
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Sparse eyelashes, Microcephaly, Partial agenesis of the corpus callosum, Optic atroph... OMIM:234050
Glutaric Acidemia I
Hypoglycemia, Hydrocephalus, Lateral ventricle dilatation, Symmetrical progressive peripheral dem... OMIM:231670
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Short neck, Protruding tongue, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Retrognat... OMIM:612938
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Microcephaly, Hydrocephalus, Flexion contracture, Progressive m... OMIM:615249
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Eyelid... ORPHA:861
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Septo-optic dysplasia, Short stature, Optic nerve hypoplasia, Maternal diabe... ORPHA:3157
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Abnormal preputium morphology, Choroid plexus cyst, Glandular hypospadias, Lat... ORPHA:293725
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy, Primary amenorrhea OMIM:616947
Kleeblattschaedel
Craniosynostosis, Hydrocephalus, Elbow ankylosis, Recurrent corneal erosions OMIM:148800
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Retinal dysplasia, Primary mic... OMIM:615771
Deeah Syndrome
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... OMIM:619004
Sialidosis Type 1
Cataract, Corneal opacity, Short stature, Decreased nerve conduction velocity, Kyphosis, Splenome... ORPHA:812
Mowat-Wilson Syndrome
Bifid scrotum, Microcornea, Widely spaced teeth, Chorioretinal coloboma, Agenesis of corpus callo... OMIM:235730
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Hypoplasia of penis, Congenital hip dislocation, Short neck, Accelerated s... ORPHA:373
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Sclerocornea, Short neck, Micrognathia, Abnormal form of the vertebral bodie... ORPHA:818
Preeclampsia
Increased body mass index, Small for gestational age, Polycystic ovaries, Type I diabetes mellitu... ORPHA:275555
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Microretrognathia, Aganglionic megacolon, Optic nerve hypoplasia, Micro... ORPHA:171680
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Short neck, Cryptorchidism, Patent ductus arteriosus, Anemia, Camptodactyly, Ne... OMIM:608104
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Short stature, Sclerocornea, Ovotestis, Microcephaly, Hydrocephalus, Cleft... OMIM:309801
Wagro Syndrome
Mandibular prognathia, Cataract, Corneal opacity, Dental crowding, Micrognathia, Obesity, Aniridi... OMIM:612469
Solitary Median Maxillary Central Incisor
Anophthalmia, Short stature, Decreased response to growth hormone stimulation test, Microcephaly,... OMIM:147250
Osteopetrosis, Autosomal Recessive 7
Death in infancy, Splenomegaly, Hydrocephalus, Optic atrophy, Growth delay, Lateral ventricle dil... OMIM:612301
Neurooculocardiogenitourinary Syndrome
Epicanthus, Bilateral cryptorchidism, Patent ductus arteriosus, Downturned corners of mouth, Seco... OMIM:618652
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... OMIM:312150
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Sacral dimple, Short stature, Ankle clonus, Lateral ventricle dilatation, High palate, Scoliosis OMIM:619995
Joubert Syndrome 37
Prominent metopic ridge, Lumbar hyperlordosis, Short stature, Cryptorchidism, Obesity, High palat... OMIM:619185
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Hydrocephalus, Optic atrophy, Microcephaly OMIM:619470
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Failure to thrive, Short stature, Overweight, High, narrow palate, Hydrocephalus, Lateral ventric... OMIM:619575
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Flexion contr... ORPHA:261537
Chops Syndrome
Cataract, Short stature, Microcephaly, Cryptorchidism, Synophrys, Splenomegaly, Optic atrophy, Ob... OMIM:616368
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cervical platyspondyly, Macrodontia, Microcephaly, Downturned corners of mouth, Tooth agenesis, C... OMIM:618731
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Abnormality of the vertebral column, Stillbirth, Abnormal ver... OMIM:276950
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Failure to thrive, Retinopathy, Microcephaly ORPHA:26
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Short neck, Micrognathia, Hemivertebrae, Abnormal optic disc morphology, ... ORPHA:96121
Familial Congenital Mirror Movements
Fused cervical vertebrae, Agenesis of corpus callosum, Hypogonadotropic hypogonadism ORPHA:238722
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Adrenal hyperplasia, High, narrow palate, Flexion contracture, Abnormal ovari... ORPHA:95699
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate,... OMIM:619452
Lissencephaly 8
Occipital encephalocele, Cataract, Microcephaly, Optic atrophy, Microphthalmia, Ventriculomegaly OMIM:617255
5Q14.3 Microdeletion Syndrome
Thick eyebrow, Optic nerve hypoplasia, Upslanted palpebral fissure, Short philtrum, Open mouth, V... ORPHA:228384
Gm1-Gangliosidosis, Type Iii
Short stature, Kyphosis, Hypoplastic acetabulae, Platyspondyly, Scoliosis, Anterior beaking of lu... OMIM:230650
Sengers Syndrome
Osteopenia, Cataract, Premature ovarian insufficiency, Developmental cataract, Growth delay, Thro... OMIM:212350
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Flexion contracture of finger, Hypospadias, Small for gest... ORPHA:464311
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
22Q11.2 Deletion Syndrome
Abnormal eyelid morphology, Short neck, Micrognathia, Hypoplasia of the thymus, Abnormality of th... ORPHA:567
Unilateral Ocular Duplication
Encephalocele, Abnormal eyebrow morphology, Median cleft lip, Abnormal pupil morphology, Cleft pa... ORPHA:3374
Nabais Sa-De Vries Syndrome, Type 1
Epicanthus, Telecanthus, Sacral dimple, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys,... OMIM:618828
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Tented upper lip vermilion, Epicanthus, Ventriculomegaly, Corneal opacity,... ORPHA:488632
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Synophrys, Bone pain, Downturned co... ORPHA:955
Aymé-Gripp Syndrome
Oligodontia, Shallow orbits, Megalocornea, Prominent metopic ridge, Short stature, Cryptorchidism... ORPHA:1272
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:611808
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Severe short stature, Miscarriage, Short neck, Microcephaly, Cryptorchidism, Hydro... ORPHA:1865
Pallister-Hall-Like Syndrome
Occipital encephalocele, Death in infancy, Median cleft lip, Short stature, Microcephaly, Microgn... OMIM:241800
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Microcornea, High palate, Microd... OMIM:268400
Microphthalmia, Syndromic 6
Small scrotum, Female hypogonadism, Retinal dystrophy, Anophthalmia, Microcephaly, Sclerocornea, ... OMIM:607932
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Optic nerve hypoplasia, Corneal dystrophy, Microcephaly, Sparse eyebrow, Cryptorchid... ORPHA:495875
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Cataract, Genu recurvatum, Reduced bone mineral density, Abnorma... ORPHA:2611
Nanophthalmos 2
Microphthalmia OMIM:609549
Mosaic Trisomy 8
Corneal opacity, Short stature, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism... ORPHA:96061
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract... OMIM:259710
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, Short philtrum, Bifid uvul... ORPHA:500150
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Selective tooth agenesis, Microcytic... ORPHA:2959
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Decreased response to growth hormo... OMIM:616007
Warburg Micro Syndrome 2
Small scrotum, Cataract, Microcephaly, Postnatal growth retardation, Cryptorchidism, Flexion cont... OMIM:614225
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Bicoronal synostosis, Everted upper lip vermilion, Camptodactyly of finger, Highly arched eyebrow... OMIM:619951
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Short ... ORPHA:35173
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Cataract, Corneal opacity, Protruding tongue, Hydrocephalus, Optic atrop... ORPHA:93400
Amed Syndrome, Digenic
Acute myeloid leukemia, Telecanthus, Short stature, Microcephaly, Thrombocytopenia, Hypoplasia of... OMIM:619151
Chondrodysplasia Punctata 2, X-Linked Dominant
Ventriculomegaly, Cataract, Sparse eyelashes, Rhizomelia, Kyphoscoliosis, Short neck, Sparse eyeb... OMIM:302960
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Epicanthus, Short stature, Short neck, Cryptorchidism, Bilateral microphth... ORPHA:369891
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Camptodactyly of finger, Hydrocephalus, Flexion contracture, Optic atrophy, Retinal dys... ORPHA:272
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:250972
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Telecanthus, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Hydro... OMIM:601499
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Microcephaly, Splenomegaly, CSF pleocytosis, Increased CSF interferon alpha, In... OMIM:615010
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... ORPHA:210110
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Kyphoscoliosis, Macrocephaly OMIM:300886
Atelis Syndrome 2
Epicanthus, Sacral dimple, Remnants of the hyaloid vascular system, Microcephaly, Micrognathia, K... OMIM:620185
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Patchy osteoscle... OMIM:241410
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Synophrys, Oligodontia, Prominence of the zygomatic bone, Prominent m... ORPHA:364577
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Cryptorchidism, Hydrocephalus, Hypoplasia of the iris, Eyelid coloboma, Limbal derm... OMIM:613001
Genitourinary And/Or Brain Malformation Syndrome
Micrognathia, Holoprosencephaly, Micropenis, Agenesis of corpus callosum, Long philtrum, Clitoral... OMIM:618820
49,Xxxxy Syndrome
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Holoprosencephaly, Short s... ORPHA:96264
Branchiooculofacial Syndrome
Anophthalmia, Short neck, Micrognathia, Iris coloboma, Hypospadias, Facial palsy, Hyperlordosis, ... OMIM:113620
Multiple Benign Circumferential Skin Creases On Limbs
Epicanthus, Small scrotum, Hypospadias, Short stature, Microcephaly, Micrognathia, Cryptorchidism... ORPHA:2505
Alg8-Cdg
Cataract, Small for gestational age, Thrombocytopenia, Optic atrophy, Anemia, Macroglossia, Campt... ORPHA:79325
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, Iron deficiency anemia, High palate, Abnormal bone ossi... ORPHA:93315
Optic Atrophy 11
Short stature, Optic nerve hypoplasia, Microcephaly, Splenomegaly, Optic atrophy, Facial diplegia... OMIM:617302
Trisomy 18
Microcornea, Holoprosencephaly, Iris coloboma, Microretrognathia, Short stature, Spina bifida, Cr... ORPHA:3380
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Neurofibromatosis Type 1
Abnormal eyelid morphology, Pheochromocytoma, Chorioretinal coloboma, Heterochromia iridis, Spina... ORPHA:636
Arthrogryposis, Distal, Type 2A
Joint dislocation, Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, ... OMIM:193700
Gracile Bone Dysplasia
Death in infancy, Short stature, Asplenia, Hydrocephalus, Hypoplastic spleen, Decreased skull oss... OMIM:602361
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Smooth philtrum, Epicanthus, Highly arched eyebrow, Microcephaly, Supernumerary nipple, Cryptorch... OMIM:618653
Dworschak-Punetha Neurodevelopmental Syndrome
Peripheral axonal neuropathy, Optic disc hypoplasia, Microcephaly, Short neck, Dysplastic corpus ... OMIM:619955
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Septo-optic dysplasia, Ectopic posterior pituitary, Decreased response to growth horm... ORPHA:95494
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation, Macrocephaly OMIM:607091
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Cockayne Syndrome A
Mandibular prognathia, Abnormal peripheral myelination, Ivory epiphyses of the phalanges of the h... OMIM:216400
Stuve-Wiedemann Syndrome 2
Death in adolescence, Stillbirth, Scoliosis, Camptodactyly, Neonatal death, Intrauterine growth r... OMIM:619751
Cerebrooculofacioskeletal Syndrome 4
Micrognathia, Knee flexion contracture, Short philtrum, Death in childhood, Wrist flexion contrac... OMIM:610758
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Accelerated skeletal maturation, Precocious puberty, Long penis, Oligozoospermi... ORPHA:3000
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Ventriculomegaly, Cataract, Contracture of the proximal interphalangeal joint of the ... OMIM:612394
Monosomy 18Q
Mandibular prognathia, Bilateral cryptorchidism, Downturned corners of mouth, High palate, Bipari... ORPHA:1600
Braddock-Carey Syndrome 1
Telecanthus, Hyperlordosis, Microcephaly, Pierre-Robin sequence, Cleft palate, Growth delay, Agen... OMIM:619980
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Hurler Syndrome
Death in infancy, Corneal opacity, Short stature, Camptodactyly of finger, Short neck, Splenomega... ORPHA:93473
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, External genital hypoplasia, Short stature, Microcephaly, Cryptorchidi... ORPHA:1867
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Corneal opacity, Ankle swelling, Micrognathia, Wrist swelling, Hypoplasia of the maxi... OMIM:166300
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration, Abnormality of the dentition OMIM:251700
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation, Craniosynostosis, Microcephaly, Aqueductal stenosis, Agenesi... ORPHA:1496
Acro-Renal-Ocular Syndrome
Vertebral fusion, Epicanthus, Cataract, Optic disc hypoplasia, Aganglionic megacolon, Postnatal g... ORPHA:959
Mucopolysaccharidosis Type 4
Joint dislocation, Corneal opacity, Short stature, Abnormal dental enamel morphology, Hyperlordos... ORPHA:582
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Hydrocephalus, Cleft palate, Bicornuate uterus, Bifid uvula OMIM:258320
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Tented upper lip vermilion, Synophrys, Flexion contracture, Downturned corners of mouth, Short ph... ORPHA:487796
Incontinentia Pigmenti
Uveitis, Orofacial cleft, Spina bifida occulta, Abnormal dental morphology, Abnormal chorioretina... ORPHA:464
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Microcephaly, Abnormal eyelash morpho... ORPHA:2399
Cornelia De Lange Syndrome 1
Short neck, Micrognathia, High, narrow palate, Synophrys, Microcornea, Downturned corners of mout... OMIM:122470
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Micrognathia, High palate, Lumbar hyperlordosis, Hypospadias, Short stature, Cryptorchidism, Pate... OMIM:616975
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Mosaic Variegated Aneuploidy Syndrome
Epicanthus, Ventriculomegaly, Corneal opacity, Vaginal neoplasm, Cataract, Microcephaly, Short st... ORPHA:1052
Kapur-Toriello Syndrome
Hypoplasia of penis, Short neck, Dysplastic corpus callosum, Patent ductus arteriosus, Orofacial ... ORPHA:2328
Seckel Syndrome 1
Dental crowding, Selective tooth agenesis, Abnormally large globe, Micrognathia, High palate, Dis... OMIM:210600
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, Periodontitis, Intrauterine growth retarda... ORPHA:1775
Alg12-Cdg
Micrognathia, Abnormal peripheral nervous system morphology, Recurrent hypoglycemia, Short philtr... ORPHA:79324
Premature Aging Syndrome, Penttinen Type
Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxilla, Shallow orbits, Joint co... OMIM:601812
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Widely spaced teeth, Joint laxity, Hyperlordosis, Hypoplasia of the odonto... OMIM:253010
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Thrombocytopenia OMIM:189800
Desmosterolosis
Micrognathia, Agenesis of corpus callosum, Bifid uvula, Increased bone mineral density, Patent du... ORPHA:35107
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
8P11.2 Deletion Syndrome
Hypoplasia of penis, Micrognathia, Microcornea, High palate, Iris coloboma, Hemolytic anemia, Hyp... ORPHA:251066
Familial Dysautonomia
Orthostatic hypotension, Corneal opacity, Recurrent fractures, Abnormal pupil morphology, Corneal... ORPHA:1764
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Craniosynostosis, Frontal encephalocele, Microphthalmia, Agenesis of corp... OMIM:218670
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Cleft palate, ... ORPHA:90654
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Hypoplastic fron... ORPHA:90650
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Joint stiffness, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum ORPHA:2182
Pseudo-Torch Syndrome 1
Microretrognathia, Ventriculomegaly, Cataract, Microcephaly, Splenomegaly, Patent ductus arterios... OMIM:251290
Wilson Disease
Back pain, Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly, Bone pain, Increas... ORPHA:905
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short stature, Short neck, Micrognathia, Abnormality of the spleen, Hydr... ORPHA:1834
Hurler-Scheie Syndrome
Short stature, Corneal opacity, Splenomegaly, Limitation of joint mobility, Spinal canal stenosis... ORPHA:93476
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Shallow orbits, A... OMIM:101200
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Anophthalmia, Dental crowding, Orofacial cleft, Malformed lac... ORPHA:2052
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Short stature, Microcephaly, Narrow mouth, Growth delay, Downturned corners of mouth, Wide mouth,... OMIM:617333
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... OMIM:253290
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Ankyloblepharon, Sclerocornea OMIM:611038
Wolf-Hirschhorn Syndrome
Sclerocornea, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners of mouth, S... ORPHA:280
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thin upper lip vermilion, Short stature, Thoracolumbar scoliosis, Short neck, Microcephaly, Micro... OMIM:616549
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Abno... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Abno... ORPHA:352665
Cat-Eye Syndrome
Short stature, Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Iris colob... ORPHA:195
Genitopalatocardiac Syndrome
Hypospadias, Microcephaly, Micrognathia, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalu... ORPHA:2075
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Cryptorchidism, Bilateral ptosis, Facet... OMIM:618000
Congenital Fibrosis Of Extraocular Muscles
Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Levator palpebrae superioris atr... ORPHA:45358
Noonan Syndrome 12
Ventriculomegaly, Decreased response to growth hormone stimulation test, Spinal canal stenosis, L... OMIM:618624
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... ORPHA:54
Monosomy 18P
Epicanthus, Short stature, Kyphoscoliosis, Short neck, Microcephaly, Micrognathia, Carious teeth,... ORPHA:1598
Frontofacionasal Dysplasia
Encephalocele, Telecanthus, Cataract, Short stature, Blepharophimosis, Brushfield spots, Non-midl... ORPHA:1791
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity, Increased intervertebral space, Thoracic platyspondyly, Patent ductus arteriosus... OMIM:618961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus, Retinal dysplasia, Ventriculomegaly OMIM:614830
Vertebral Hypersegmentation And Orofacial Anomalies
Epicanthus, Supernumerary nipple, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip... OMIM:619122
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Short neck, Micrognathia, Synophrys, Microcornea, Microdontia, Hypospadias, Short ... OMIM:616734
Desmosterolosis
Relative macrocephaly, Epicanthus, Rhizomelia, Microcephaly, Micrognathia, Generalized osteoscler... OMIM:602398
Robinow Syndrome
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Hemivertebrae, Orofaci... ORPHA:97360
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin... OMIM:613702
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Epicanthus, Optic disc hypoplasia, Optic nerve hypoplasia, Short stature, Delayed sk... ORPHA:401777
Thanatophoric Dysplasia
Joint stiffness, Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis, Patent ductus art... ORPHA:2655
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:120433
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Hypospadias, Sparse eyelashes, Short stature, Microcephaly, Sparse eyeb... OMIM:618874
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Pancytopenia, Corneal opacity, Cachexia, Abnormality of the spleen, Hydrocephalus, T... ORPHA:2072
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Dental crowding, Highly arched eyebrow, Micrognathia, Cryptor... OMIM:619005
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Multiple joint contractures, Hypospadias, Small for gestational age, Anterior ... ORPHA:464306
Lissencephaly 5
Occipital encephalocele, Cataract, Hydrocephalus, Optic atrophy, Macrocephaly OMIM:615191
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Cryptorchidism, Delayed skeletal maturation, Patent ductus arteriosus, Growth delay... OMIM:614857
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Gingivitis, Conjunctivitis, Vaginitis, Polycythemia, Short statu... ORPHA:2968
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Flexion contracture, Optic atrophy, Increased laxity of ankles, Upper limb pain, S... ORPHA:99947
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Moebius Syndrome
Epicanthus, Hypogonadotropic hypogonadism, Short neck, Micrognathia, Abnormality of the dentition... OMIM:157900
Developmental And Epileptic Encephalopathy 1
Microcephaly, Growth delay, Microphthalmia, Micropenis, Ventriculomegaly OMIM:308350
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Macrocephaly OMIM:307000
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Short nec... OMIM:613686
Biemond Syndrome Ii
Hydrocephalus, Short stature, Iris coloboma OMIM:210350
Cockayne Syndrome
Congenital contracture, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Retin... ORPHA:191
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
48,Xxxy Syndrome
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Abnormal dental enamel mor... ORPHA:96263
Livedoid Vasculopathy
Pancytopenia, Diabetes mellitus, Enlargement of the ankles, Abnormality of the peripheral nervous... ORPHA:542643
Caudal Regression Syndrome
Maternal diabetes, Joint stiffness, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Orofacial c... ORPHA:3027
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Short stature, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Malar flatte... OMIM:218350
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Epicanthus, Ventriculomegaly, Abnormal dental enamel morphology, Supernumera... ORPHA:1812
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Short neck, Asplenia, Micrognathia, Ambiguo... OMIM:249000
3Mc Syndrome 3
Bifid scrotum, Sacral dimple, Corneal opacity, Short stature, Highly arched eyebrow, Cleft upper ... OMIM:248340
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Telecanthus, Corneal opacity, Short stature, Craniosynostosis, Micro... ORPHA:1064
Keppen-Lubinsky Syndrome
Tented upper lip vermilion, Abnormally large globe, Microcephaly, Micrognathia, Flexion contractu... OMIM:614098
Intellectual Developmental Disorder, Autosomal Recessive 68
Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Synophrys, Hydrocephalus, Nar... OMIM:618302
Acromelic Frontonasal Dysostosis
Encephalocele, U-Shaped upper lip vermilion, Telecanthus, Remnants of the hyaloid vascular system... OMIM:603671
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Synophr... ORPHA:3455
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Epicanthus, Telecanthus, Palpebral edema, Cataract, Short stature, Lower e... OMIM:181270
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Irregular menstruation, Obesity, Truncal obesi... OMIM:615986
Houge-Janssens Syndrome 1
Congenital hip dislocation, Hypoglycemia, Hydrocephalus, Scoliosis, Macrocephaly, Intrauterine gr... OMIM:616355
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Peters Plus Syndrome
Short neck, Micrognathia, Microcornea, Clitoral hypoplasia, Widely spaced teeth, Spina bifida occ... ORPHA:709
Galloway-Mowat Syndrome
Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger, Microcephaly, Aq... ORPHA:2065
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Small for gestational age, Hypoglycemia, Short stature, Precocious puberty... OMIM:262190
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Unilateral microphthalmos, Osteopetr... OMIM:615085
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Subaortic Stenosis-Short Stature Syndrome
Epicanthus, Short stature, Short neck, Micrognathia, Kyphosis, Obesity, Type II diabetes mellitus... ORPHA:3191
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Multiple Sulfatase Deficiency
Corneal opacity, Short stature, Splenomegaly, Hydrocephalus, Hypoplastic vertebral bodies, Retina... OMIM:272200
Crouzon Syndrome
Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephalus, Optic atrophy, Narrow palat... ORPHA:207
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Genital ulcers, Oral ulcer, Polyarticular arthritis, Lymphope... OMIM:616744
Griscelli Syndrome
Encephalocele, Abnormal eyebrow morphology, Short stature, Abnormality of neutrophils, Abnormal e... ORPHA:381
Tenorio Syndrome
Osteopenia, Joint laxity, Telecanthus, Ventriculomegaly, Hypoglycemia, Delayed cranial suture clo... OMIM:616260
Bartsocas-Papas Syndrome 2
Corneal opacity, Accessory oral frenulum, Micrognathia, Antecubital pterygium, Ankyloblepharon, B... OMIM:619339
Joubert Syndrome With Ocular Defect
Encephalocele, Retinal dystrophy, Aganglionic megacolon, Highly arched eyebrow, Hydrocephalus, Or... ORPHA:220493
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Hydrocephalus, Optic atrophy, Secondary microcephaly, Macrocephaly OMIM:618174
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Agenesis of corpus callo... OMIM:615219
Peroxisome Biogenesis Disorder 1A (Zellweger)
Micrognathia, High, narrow palate, Subependymal cysts, High palate, Death in childhood, Hypospadi... OMIM:214100
Prader-Willi Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... OMIM:176270
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Accelerated skeletal maturation, Vertebral segmentation defect, Agenesis o... OMIM:312870
Chromosome 17P13.1 Deletion Syndrome
Short neck, High, narrow palate, Synophrys, Knee flexion contracture, High palate, Short philtrum... OMIM:613776
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Mosaic Trisomy 20
Vertebral fusion, Micrognathia, Cryptorchidism, Kyphosis, Cleft lip, Spinal canal stenosis, Cleft... ORPHA:1724
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Epiphyseal stippling, Colpocephaly OMIM:614870
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Vertebral fusion, Cataract, Block vertebrae, Tarsal synostos... OMIM:272460
Incontinentia Pigmenti
Conical tooth, Hemivertebrae, Uveitis, Oligodontia, Hypoplasia of the fovea, Short stature, Leuko... OMIM:308300
Blepharophimosis, Ptosis, And Epicanthus Inversus
Ptosis, Telecanthus, Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, ... OMIM:110100
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Methemoglobinemia, Polycythemia, Microcephaly OMIM:250800
Mend Syndrome
Telecanthus, Sacral dimple, Cataract, Short stature, Abnormal auditory evoked potentials, Microgn... ORPHA:401973
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Death in infancy, Conical tooth, Anemia, Death i... OMIM:617475
Diaphanospondylodysostosis
Short neck, Myelomeningocele, Cleft palate, Absent or minimally ossified vertebral bodies, Abnorm... ORPHA:66637
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Genu varum, Death in infancy, Short stature, Spina bifida, Leukocytosis, Patent duc... OMIM:274000
Pseudotrisomy 13 Syndrome
Encephalocele, Microcephaly, Cleft upper lip, Cryptorchidism, Hydrocephalus, Hemivertebrae, Upsla... OMIM:264480
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Synophrys, Deep philtrum, Short philtrum, Joint contracture of the 5th finger, Joint laxity, Exag... OMIM:620098
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Flexion... ORPHA:666
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the uterus, Microphthalmia, Ag... OMIM:617914
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Iridodonesis, Epicanthus, Short stature, Microcephaly, Micrognathia, Kyphosis, Hypopl... ORPHA:2479
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Increased bone mineral density, Micrognathia, Cryptorchidism, Deep p... ORPHA:1237
X-Linked Parkinsonism-Spasticity Syndrome
Ankle clonus, Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Mevalonic Aciduria
Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Failure to thrive in infancy, Short s... OMIM:610377
Niemann-Pick Disease, Type B
Short stature, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Abnormal macular morpholog... OMIM:607616
Scheie Syndrome
Mandibular prognathia, Corneal opacity, Short neck, Genu valgum, Retinal degeneration, Spondyloli... OMIM:607016
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Corneal opacity, Camptodactyly of finger, Elbow dislocation, Limitation... ORPHA:2741
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Microcephaly, Short neck, Craniosynostosis, Deep philtrum, Abnormality of... ORPHA:251038
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short stature, Disproportionat... OMIM:271630
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Microcephaly, Postnatal growth retardation, Hydrocephalus, Osteo... ORPHA:2169
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Dysplastic corpus callosum, Genu valgum, Progressive microcephaly, ... ORPHA:488627
Myopathy, Centronuclear, X-Linked
Facial palsy, Cryptorchidism, Hydrocephalus, Flexion contracture, Dental malocclusion, High palat... OMIM:310400
Wildervanck Syndrome
Facial palsy, Short neck, Meningocele, Fused cervical vertebrae, Pseudopapilledema, Lens subluxation ORPHA:3456
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Impaired glucose tolerance, Short stature, Splenomegaly, Hydrocephalus, Obesity... OMIM:615630
Mend Syndrome
Microretrognathia, Smooth philtrum, Sacral dimple, Cataract, Short stature, Micrognathia, Cryptor... OMIM:300960
Peters-Plus Syndrome
Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, S... OMIM:261540
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Micrognathia, Short philtrum, Hypospadias, Short stature, Sparse eyebrow, Cryptorc... OMIM:613026
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Trident pelvis, Hypospadias, Short lingual frenulum, Flexion contracture, Lateral ventricle dilat... OMIM:619479
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Epicanthus, Cataract, Short stature, Short neck, Cleft lip, Deep philtrum, Cle... OMIM:618571
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Cleft palate, Hydrocele testis, Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocyt... OMIM:616738
Transaldolase Deficiency
Pancytopenia, Small for gestational age, Short neck, Thrombocytopenia, Synophrys, Splenomegaly, P... OMIM:606003
Mucopolysaccharidosis, Type Vi
Flexion contracture, Anterior wedging of L1, Avascular necrosis, Lumbar hyperlordosis, Short stat... OMIM:253200
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Absent external genitalia, Hemivertebrae, Aplasia ... OMIM:271520
Roberts-Sc Phocomelia Syndrome
Short neck, Micrognathia, Knee flexion contracture, Eyelid coloboma, High palate, Shallow orbits,... OMIM:268300
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Smooth philtrum, Corneal opacity, Micrognathia, Keratitis, Synophrys, Wide mouth, Oligodontia, Co... OMIM:602562
Von Hippel-Lindau Disease
Back pain, Papilledema, Retinal detachment, Hypertensive retinopathy, Neoplasm of the pancreas, P... ORPHA:892
Pelger-Huet Anomaly
Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hyposegmentation of neutrophi... OMIM:169400
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Cataract, Short stature, Bilateral cryptorchidism, Kyphosis, Synophrys, Hydrocep... ORPHA:3042
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Peripheral axonal neuropathy, Overweight, Obesity, Lateral ventricle dil... ORPHA:2822
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Keratitis, Hypoplasia of the m... OMIM:123500
Pontocerebellar Hypoplasia, Type 7
Epicanthus, Ventriculomegaly, Micrognathia, Cryptorchidism, Synophrys, Hydrocephalus, Optic atrop... OMIM:614969
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, External genital hypoplasia, Epispadias, High, narrow palate, Agenesis of ... ORPHA:2658
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Short stature, Highly arched eyebrow, Microcephaly, Long philtrum, Microphthal... OMIM:300887
Mucopolysaccharidosis-Plus Syndrome
Epicanthus, Telecanthus, Microcephaly, Short neck, Thrombocytopenia, Synophrys, Splenomegaly, Opt... OMIM:617303
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Osteopenia, Mandibular prognathia, Short neck, Widely spaced teeth, ... ORPHA:309282
Farber Disease
Abnormality of the knee, Corneal opacity, Short stature, Thrombocytopenia, Flexion contracture, O... ORPHA:333
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, U... OMIM:221900
Microphthalmia, Isolated 8
Retinal detachment, Entropion, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re... OMIM:615113
Xeroderma Pigmentosum, Complementation Group B
Cataract, Short stature, Microcephaly, Decreased nerve conduction velocity, Optic atrophy, Pigmen... OMIM:610651
Elsahy-Waters Syndrome
Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synoph... OMIM:211380
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Microretrognathia, Telecanthus, Accessory oral frenulum, Microcephaly, ... ORPHA:434179
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Severe short stature, Short neck, Hemivertebrae, Disproportionat... OMIM:122600
Krabbe Disease
Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, F... OMIM:245200
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Mandibular prognathia, Diabetes mellitus, Small for gestational age, Hypoplastic sacr... OMIM:614813
Cardiofaciocutaneous Syndrome
Short neck, High palate, Biparietal narrowing, Short stature, Abnormal eyelash morphology, Crypto... ORPHA:1340
Roberts Syndrome
Short neck, Micrognathia, Knee flexion contracture, High palate, Wrist flexion contracture, Synos... ORPHA:3103
Thanatophoric Dysplasia Type 2
Encephalocele, Short stature, Kyphosis, Hydrocephalus, Limitation of joint mobility, Patent ductu... ORPHA:93274
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Hydrocephalus, Joint laxity, Kyphoscoliosis OMIM:236660
D-Glyceric Aciduria
Hypoglycemia, Optic nerve hypoplasia, Microcephaly, Patent ductus arteriosus, Growth delay, Micro... OMIM:220120
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Relative macrocephaly, Increased bone mineral density, Cataract, Short stature, Micrognathia, Mac... OMIM:617306
Histiocytoid Cardiomyopathy
Hypoglycemia, Corneal opacity, Hydrocephalus, Optic atrophy, Cleft palate, Polycystic ovaries, Mi... ORPHA:137675
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Smooth philtrum, Short neck, Micrognathia, High, narrow palate, Synophrys, Hydrocephalus, Growth ... OMIM:620156
Braddock-Carey Syndrome 2
Microcephaly, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Retrognathia, Down... OMIM:619981
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Sagittal craniosynostosis, Dandy-Walker malformation OMIM:123155
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
Congenital Disorder Of Glycosylation, Type Iim
Mandibular prognathia, Epicanthus, Exaggerated cupid's bow, Microcephaly, Open mouth, Lateral ven... OMIM:300896
Hogue-Janssen Syndrome 2
Prominent metopic ridge, Tented upper lip vermilion, Joint hypermobility, Microcephaly, Hydroceph... OMIM:616362
Alexander Disease Type I
Cachexia, Hydrocephalus, Progressive macrocephaly, Abnormal thalamic MRI signal intensity, Scolio... ORPHA:363717
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Epicanthus, Ventriculomegaly, Sclerotic vertebral body, Tented upper lip vermilion, Kyphosis, Hyd... OMIM:618476
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Bone pain, Anemia, Thrombocytopenia, Ptosis OMIM:610539
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Abnormal dental enamel morphology, Hydrocephalus, Hemivertebrae, Obesity, ... ORPHA:2180
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Short stature, Microcephal... ORPHA:2714
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Microcephaly, Postnatal growth retardation, Cryptorchidism, Microdontia, Cleft pal... ORPHA:2728
Ohdo Syndrome, X-Linked
Small scrotum, Micrognathia, High palate, Widely spaced teeth, Microdontia, Micropenis, Decreased... OMIM:300895
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, High palate, Shallow orbits... OMIM:182212
Spondyloenchondrodysplasia
Delayed eruption of teeth, Abnormal lateral ventricle morphology, Pancytopenia, Autoimmune hemoly... ORPHA:1855
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Smooth philtrum, Severe B lymphocytopenia, Cataract, Delayed cranial suture clo... OMIM:620005
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephalus, Optic atrophy, Abnormal for... ORPHA:93262
Halperin-Birk Syndrome
Micrognathia, Flexion contracture, Optic atrophy, Hip dislocation, Developmental cataract, Colpoc... OMIM:618651
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Spina bifida occulta, Age... OMIM:218600
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral ptosis, Sacral dimple, Short stature, Microcephaly, Bilateral microphthalmos, Hemivert... OMIM:619318
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Proportionate short stature, Cryptorchidism, Deep philtrum, Trismus, Hyperexten... OMIM:227330
Fetal Alcohol Syndrome
Thin upper lip vermilion, Epicanthus, Telecanthus, Short stature, Microcephaly, Joint stiffness, ... ORPHA:1915
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Epicanthus, Cryptorchidism, High, narrow palate, Cleft palate, Scoliosi... OMIM:618494
Moebius Syndrome
Death in infancy, Epicanthus, Corneal opacity, Hypogonadotropic hypogonadism, Facial palsy, Micro... ORPHA:570
Frontorhiny
Encephalocele, Epicanthus, Lumbar hyperlordosis, Cataract, Camptodactyly of finger, Hypoplasia of... ORPHA:391474
3-Methylglutaconic Aciduria, Type Viib
Cataract, Rhizomelia, Neonatal hypoglycemia, Microcephaly, Micrognathia, Trismus, Flexion contrac... OMIM:616271
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Telecanthus, Optic nerve hypoplasia, Joint hypermobility, Cleft upper lip, High, narrow palate, B... OMIM:607597
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Prominent metopic ridge, Hypoglycemia, Large for gestational age, Accelera... ORPHA:116
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Decreased response to growth hormone stimulation test, Pineal cyst, Agenesis o... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Decreased response to growth hormone stimulation test, Pineal cyst, Agenesis o... ORPHA:363958
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Optic atrophy, Retinopath... ORPHA:447788
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Tented upper lip vermilion, Large for gestational age, ... OMIM:229850
Hartsfield Syndrome
Encephalocele, Telecanthus, Craniosynostosis, Non-midline cleft lip, Cleft palate, Lobar holopros... ORPHA:2117
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ventriculomegaly, Hypoglycemia, Optic atrophy, Long philtrum, Intrauterine growth retardation, Ro... OMIM:617710
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, CSF pleocytosis, Hepatosple... ORPHA:158057
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Short stature, Delayed cranial suture closure, Persistence of primary teeth, Postnat... ORPHA:93325
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Flexion contracture, Secondary microcephaly, Scoliosis ORPHA:2148
Mucopolysaccharidosis Type 3
Synophrys, Flexion contracture, Abnormal form of the vertebral bodies, Reduced bone mineral densi... ORPHA:581
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Dental crowding, Hyperautofluorescent macular lesion, Hi... OMIM:209900
Galloway-Mowat Syndrome 1
Epicanthus, Ventriculomegaly, Small for gestational age, Cataract, Short stature, Microcephaly, M... OMIM:251300
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Short neck, Micrognathia, Deep philtrum, Hig... OMIM:115150
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Brain abscess, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Hydrocephalus, D... OMIM:616482
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation, Cataract, Microcephaly ORPHA:291
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Severe short stature, Cachexia, Microcephaly, Optic atrophy, Def... OMIM:610965
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Developmental cataract, Gingival bleeding, Microphthal... ORPHA:335
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Wide cranial sutures, Short stature, Recurrent fractures, Postnata... OMIM:616294
Williams Syndrome
Osteopenia, Hypoplasia of penis, Micrognathia, Abnormal form of the vertebral bodies, Vertebral s... ORPHA:904
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Type II diabetes mellitus, S... ORPHA:1436
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent metopic ridge, Optic nerve hypoplasia, Upper eyelid entropion, Joint hypermobility, Hyd... ORPHA:457284
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Micrognathia, Hydrocephalus, Supernumerary ribs, Chorioretinal coloboma, Retrog... ORPHA:163961
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Micrognathia, Microcornea, High palate, Clitoral hypertrophy, Short s... OMIM:244450
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Retinal dystrophy, Pancreatic fibrosis, Hamartoma of tongue, Microglossia, Clef... OMIM:263520
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Menorrhagia, Anemia OMIM:616176
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Neu-Laxova Syndrome 1
Short neck, Micrognathia, Swollen lip, Neonatal death, Pterygium, Agenesis of corpus callosum, Da... OMIM:256520
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Short neck, Abnormally large globe, Accelerated skeletal maturation, Micrognathia, Mu... OMIM:245600
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Lacrimal duct stenosis, Optic nerve hypoplasia, Palpebral edema, Hyperlordosis, Derma... ORPHA:221139
Carpenter Syndrome
External genital hypoplasia, Kyphoscoliosis, Craniosynostosis, Abnormal reproductive system morph... ORPHA:65759
Opitz-Kaveggia Syndrome
Multiple joint contractures, Dental crowding, Short neck, Micrognathia, Partial agenesis of the c... OMIM:305450
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Bilateral cryptorchidism, Short neck, Hypoplasia of the maxilla, Flexi... OMIM:263650
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Ptosis, Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies,... ORPHA:2064
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Oral ulcer, Leukopenia, Neutropenia, Failure to thrive, T... OMIM:229050
Craniopharyngioma
Papilledema, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... ORPHA:54595
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia,... ORPHA:2298
Bornholm Eye Disease
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia OMIM:300843
Joubert Syndrome 14
Encephalocele, Epicanthus, Tented upper lip vermilion, Highly arched eyebrow, Morning glory anoma... OMIM:614424
Greig Cephalopolysyndactyly Syndrome
Telecanthus, Craniosynostosis, Accelerated skeletal maturation, Hydrocephalus, Macrocephaly, Agen... ORPHA:380
21Q22.11Q22.12 Microdeletion Syndrome
Smooth philtrum, Thin upper lip vermilion, Sacral dimple, Failure to thrive in infancy, Short sta... ORPHA:261323
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Short stature, Glucose intolerance, Fused cervical vertebrae, Scoliosis,... OMIM:309620
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta... OMIM:259600
Skin Creases, Congenital Symmetric Circumferential, 1
Epicanthus, Microcephaly, Short neck, Micrognathia, Cleft palate, Upslanted palpebral fissure, Mi... OMIM:156610
Yunis-Varon Syndrome
Sclerocornea, Micrognathia, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Sh... ORPHA:3472
Microphthalmia, Syndromic 1
Anophthalmia, Dental crowding, High, narrow palate, Orofacial cleft, Microcornea, High palate, Ch... OMIM:309800
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Reticulocytosis, Increased bone mineral density, Recurrent fractures, Facial p... OMIM:611490
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Severe short stature... OMIM:309900
Trichothiodystrophy 1, Photosensitive
Death in infancy, Cataract, Small for gestational age, Short stature, Microcephaly, Flexion contr... OMIM:601675
Peroxisome Biogenesis Disorder 12A (Zellweger)
Epicanthus, Prominence of the premaxilla, Short stature, Delayed closure of the anterior fontanel... OMIM:614886
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Retinal arteriolar tortuosity, Hydrocephalus, Polycoria, Retin... OMIM:175780
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Pancreatic And Cerebellar Agenesis
Death in infancy, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Microcephaly, Joint st... OMIM:609069
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Joubert Syndrome With Renal Defect
Encephalocele, Aganglionic megacolon, Highly arched eyebrow, Hydrocephalus, Orofacial cleft, Clef... ORPHA:220497
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Lobulated tongue, Unicoronal synostosis, Dandy-Walker malformation, Encephalocele, Microretrognat... OMIM:616300
Ritscher-Schinzel Syndrome 1
Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Hydrocephalus, ... OMIM:220210
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Epicanthus, Sacral dimple, Aganglionic megacolon, Micro... OMIM:613603
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Smooth philtrum, Epicanthus, Premature ovarian insufficiency, Hypospadias, Endometriosis, Abnorma... ORPHA:363444
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Short stature, Micrognathia, Hydrocephalus, Wide mouth, Platyspondy... ORPHA:163966
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Pituitary dwarfism, Hypogonadotropic hypogonadism, Optic nerve hypop... ORPHA:226307
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Retinal dystrophy, Short stature, Megaloblastic anemia, Optic atrophy, Thrombo... ORPHA:49827
Optic Pathway Glioma
Papilledema, Precocious puberty, Hydrocephalus, Neurofibroma, Optic atrophy, Growth delay ORPHA:2086
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Micrognathia, Hip dislocation, Cleft palate, Fused cervical ve... ORPHA:3320
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, High... OMIM:304100
Myotonic Dystrophy 2
Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Oligozoospermia, Hypog... OMIM:602668
Satoyoshi Syndrome
Abnormality of the knee, Short stature, Microcephaly, Hyperlordosis, Abnormal joint morphology, G... ORPHA:3130
Meningioma
Back pain, Papilledema, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the ... ORPHA:2495
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia, Narrow mouth, Microcephaly ORPHA:3469
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Rieger anomaly, Hypospadias, Decreased response to growth hormone stimu... OMIM:180500
Revesz Syndrome
Abnormality of chromosome stability, Aplastic anemia, Leukocoria, Exudative retinopathy, Bone mar... OMIM:268130
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Short stature, Microcephaly, Avascular necrosis of the capital fem... OMIM:613990
Neurofibromatosis, Type I
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Neurofibroma, Macrocephaly, Genu... OMIM:162200
Hurler-Scheie Syndrome
Short stature, Corneal opacity, Camptodactyly of finger, Joint stiffness, Micrognathia, Splenomeg... OMIM:607015
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Congenital hip dislocation, Malar flattening, Microcephaly, Hydrocephalus, Agenesis o... OMIM:612940
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
6P22 Microdeletion Syndrome
Epicanthus, Short neck, Patent ductus arteriosus, Hydrocephalus, Abnormal palate morphology ORPHA:251046
Seckel Syndrome 2
Small for gestational age, Hypospadias, Short stature, Microcephaly, Micrognathia, Growth delay, ... OMIM:606744
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Oral ulcer, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia OMIM:301080
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Short stature, Genu recurvatum, Interphalangeal joint contractur... OMIM:151200
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Epicanthus, Supernumerary nipple, Micrognathia, Cryptorchidism, Deep ph... OMIM:613884
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Uveitis, Conjunctivitis, Agenesis of corpus callosum, Abnormal verteb... ORPHA:2273
Donohue Syndrome
Precocious puberty, Postnatal growth retardation, Delayed skeletal maturation, Long penis, Hyperi... OMIM:246200
Charcot-Marie-Tooth Disease Type 4C
Neuropathic spinal arthropathy, Decreased motor nerve conduction velocity, Decreased number of pe... ORPHA:99949
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Flexion contracture, Leukopenia, Conjunctivitis, Thoracic kyphosis, Lumbar hyperlordo... ORPHA:505248
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Short stature, Congenital hip dislocation, Optic disc coloboma, ... OMIM:169550
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Monosomy 9P
Short neck, Micrognathia, Synophrys, High palate, Agenesis of corpus callosum, Hypospadias, Highl... ORPHA:261112
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Micrognathia, Patent ductus arteriosus, Leukocoria, Orofacial cleft, Reduced ... ORPHA:1556
Pituitary Stalk Interruption Syndrome
Death in infancy, Hypoplasia of penis, Septo-optic dysplasia, Hypoglycemia, Ectopic posterior pit... ORPHA:95496
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Small scrotum, Cataract, Micrognathia, Hydrocephalus, Upslanted palpebral fissu... OMIM:617822
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Short stature, Abnormality o... ORPHA:229717
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Short stature, Microcephaly, Hydrocephalus, Upslanted palpebral fissure... OMIM:300558
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Protruding tongue, Optic atrophy, Gingival overgrowth, Abnormal form o... ORPHA:93399
Axenfeld-Rieger Syndrome, Type 3
Patent ductus arteriosus, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the an... OMIM:602482
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Abnormality of the gingiva, Weight loss, Anemia, Thrombocytopenia ORPHA:517
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hyperextensibility of the finger joints, Thin upper lip vermilion, Hypospadia... ORPHA:163979
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Absent platelet dense granules, Metrorrhagia, Impaired ADP-induced plate... OMIM:614074
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
15Q Overgrowth Syndrome
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... ORPHA:314585
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Dental crowding, Micrognathia, Partial agenesis of the corpus callo... OMIM:270400
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short stature, Rhizomelia, Hydrocephalus, Platyspondyly, Macrocephaly, Microphthalmia, Decreased ... OMIM:300863
Gaucher Disease
Osteopenia, Joint dislocation, Osteoarthritis, Bone pain, Cherry red spot of the macula, Avascula... ORPHA:355
Thakker-Donnai Syndrome
Communicating hydrocephalus, Short neck, Hemivertebrae, Upslanted palpebral fissure, Downturned c... ORPHA:1780
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... OMIM:155100
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Microcephaly, Alobar holoprosenc... OMIM:301043
Atelosteogenesis, Type I
Encephalocele, Rhizomelia, Short neck, Thoracic platyspondyly, Cryptorchidism, Elbow dislocation,... OMIM:108720
Malaria
Anemia, Retinopathy, Thrombocytopenia ORPHA:673
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Ventriculomegaly, Optic nerve hypoplasia, Microcephaly, Dilated third v... OMIM:615574
Septooptic Dysplasia
Optic disc hypoplasia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response ... OMIM:182230
Frontonasal Dysplasia 2
Encephalocele, Telecanthus, Sparse eyelashes, Craniosynostosis, Microcephaly, Bilateral cryptorch... OMIM:613451
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Widely spaced teeth, Anterior beaking of lumbar vertebrae, Joi... OMIM:253000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Abnormally large globe, Kyphosis, Hydrocephalus, Knee flexion contracture, Ma... OMIM:603387
3Mc Syndrome
Bilateral cryptorchidism, Orofacial cleft, Downturned corners of mouth, Abnormal anterior chamber... ORPHA:293843
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Duane-Radial Ray Syndrome
Epicanthus, Cataract, Optic disc hypoplasia, Facial palsy, Aganglionic megacolon, Fused cervical ... OMIM:607323
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Cernunnos-Xlf Deficiency
Microcephaly, Thrombocytopenia, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Dyggve-Melchior-Clausen Disease
Severe short stature, Corneal opacity, Rhizomelia, Short neck, Microcephaly, Abnormality of the v... ORPHA:239
Marden-Walker Syndrome
Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Agenesis of corpus callosum, Bif... ORPHA:2461
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Decreased response to grow... ORPHA:811
Holoprosencephaly 7
Alobar holoprosencephaly, Synophrys, Partial agenesis of the corpus callosum, Holoprosencephaly, ... OMIM:610828
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Retinal dystrophy, Hydrocephalus, Optic disc col... OMIM:608091
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Sacral dimple, Micrognathia, High, n... ORPHA:435638
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Micropenis, Pancreatic hypoplasia, C... ORPHA:83617
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Fontaine Progeroid Syndrome
Mandibular prognathia, Small scrotum, Micrognathia, High, narrow palate, Synophrys, Oligodontia, ... OMIM:612289
Diamond-Blackfan Anemia
Pure red cell aplasia, Short neck, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Neut... ORPHA:124
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Craniosynostosis, Malar flattening, Cryptorchidism, Hydrocephalus, Optic atrophy, ... ORPHA:1555
Holoprosencephaly 14
Ventriculomegaly, Median cleft lip, Microcephaly, Aqueductal stenosis, Alobar holoprosencephaly, ... OMIM:619895
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, High palate, Exaggerated median... OMIM:608670
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Hooded eyelid, Anterio... OMIM:619841
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus, Limitation of joint mobility, Cleft palate, High palate, Trac... ORPHA:93259
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Short stature, Microcephaly, Overweight, Cervical C2/C3 vertebral fusio... ORPHA:370010
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Lens coloboma, Abnormality of the o... ORPHA:42775
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Corneal opacity, Genu recurvatum, Microcephaly, Everted lowe... ORPHA:578
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Retinal detachment, Cataract, Spinal rigidity, Hydrocephalus, Flexion contracture,... OMIM:253800
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia OMIM:124900
Lowe Oculocerebrorenal Syndrome
Wrist swelling, Short stature, Osteomalacia, Cryptorchidism, Corneal scarring, Scoliosis, Joint c... OMIM:309000
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Lathosterolosis
Bilobate gallbladder, Micrognathia, Ambiguous genitalia, male, High palate, Thick upper lip vermi... OMIM:607330
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Fetal Gaucher Disease
Death in infancy, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Sti... ORPHA:85212
Tetrasomy 9P
Joint dislocation, Dental crowding, Short neck, Micrognathia, Downturned corners of mouth, High p... ORPHA:3310
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Multiple joint dislocation, Microcornea, H... ORPHA:536467
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Natal tooth, Hypospadias, Craniosynostosis, Malar flattening, Hydrocephalus, Limit... OMIM:123790
Focal Dermal Hypoplasia
Corneal opacity, Camptodactyly of finger, Spina bifida, Ectopia lentis, Abnormal dental morpholog... ORPHA:2092
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Patent ductus arteriosus, Abnormal vagina morphology, Anemia ORPHA:2123
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Abnormal autonomic ... OMIM:598500
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Abnormality of chromosome stability, Short stature... ORPHA:647
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Diabetes mellitus, Hypogonadotropic hypogonadism, Joint stiffness, Splenomegaly, Ost... ORPHA:465508
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Hemivertebrae, Holopro... OMIM:146510
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Long p... OMIM:615145
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to... OMIM:615285
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Abnormality of dental color, Short stature, Corneal opacity, Kyphoscoliosis, Recurren... OMIM:163200
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Elbow dislocation, Abnormality of the spleen, Perineal fistula, Growth delay, Recto... ORPHA:2538
Erythrocytosis, Familial, 2
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin OMIM:263400
Joubert Syndrome With Oculorenal Defect
Encephalocele, Retinal dystrophy, Aganglionic megacolon, Highly arched eyebrow, Hydrocephalus, Bi... ORPHA:2318
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow pa... ORPHA:2462
Aicardi-Goutieres Syndrome 5
Arthropathy, Microcephaly, Flexion contracture, CSF lymphocytic pleiocytosis, Thrombocytopenia OMIM:612952
Hallermann-Streiff Syndrome
Micrognathia, High, narrow palate, Uveitis, Reduced bone mineral density, Glossoptosis, Sparse ey... ORPHA:2108
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon ORPHA:275543
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Micrognathia, High palate, Biparietal narrowing, Short philtrum, Camptodac... ORPHA:261337
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Medial flaring of the eyebrow, Smooth philtrum, Short stature, Postnatal growth retardation, Syno... OMIM:620113
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Microcytic anemia, Optic atrophy, Microphthalmia, Failure to thrive OMIM:612379
Wiedemann-Rautenstrauch Syndrome
Short neck, Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thy... OMIM:264090
Linear Nevus Sebaceus Syndrome
Telecanthus, Ventriculomegaly, Genu recurvatum, Growth delay, Vertebral segmentation defect, Aden... ORPHA:2612
Diabetes Mellitus, Permanent Neonatal, 2
Prominent metopic ridge, Bilateral ptosis, Flexion contracture, Downturned corners of mouth, Type... OMIM:618856
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Scoliosis OMIM:607155
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... ORPHA:740
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pri... OMIM:604367
Ataxia-Pancytopenia Syndrome
Pancytopenia, Decreased nerve conduction velocity, Acute myelomonocytic leukemia, Anemia, Ankle c... OMIM:159550
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Irregularity of vertebral bodies, Retinal degeneration, Papilledema,... ORPHA:580
Isolated Ectopia Lentis
Mandibular prognathia, Cataract, Joint stiffness, Ectopia lentis, Ectopia pupillae, Malar flattening ORPHA:1885
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Synophrys, Downturned corner... ORPHA:444077
Joubert Syndrome
Encephalocele, Aganglionic megacolon, Highly arched eyebrow, Hydrocephalus, Abnormal form of the ... ORPHA:475
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Microcephaly, Micrognathia, Hydrocephalus, Cleft palate, Joint contracture, Hydranencephaly, Intr... OMIM:225790
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Relative macrocephaly, Epicanthus, Short stature, Sagittal craniosynostosis, Micrognathia, Sparse... ORPHA:459061
Trichinellosis
Facial palsy, Abnormal cerebrospinal fluid morphology, Trismus, Retinal hemorrhage, Central retin... ORPHA:863
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Short stature, Microcephaly, Scoliosis, Failure to thrive, Thrombocytopenia OMIM:616577
Nance-Horan Syndrome
Mandibular prognathia, Retinal detachment, Cataract, Abnormality of the dentition, Supernumerary ... ORPHA:627
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Dental crowding, Spinal rigidity, Micrognathia, Bilateral pt... OMIM:620351
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Dyskeratosis Congenita, X-Linked
Leukopenia, Conjunctivitis, Premature loss of teeth, Pterygium, Hypospadias, Short stature, Crypt... OMIM:305000
Adams-Oliver Syndrome 4
Microphthalmia, Patent ductus arteriosus OMIM:615297
Curry-Jones Syndrome
Craniosynostosis, Optic disc coloboma, Microphthalmia, Agenesis of corpus callosum, Iris coloboma... ORPHA:1553
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Osteomyelitis, Short stature, Sinusitis, Thrombocytopenia,... ORPHA:47
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Developmental And Epileptic Encephalopathy 31B
Protruding tongue, Almond-shaped palpebral fissure, Optic atrophy, Gingival overgrowth, Colpoceph... OMIM:620352
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Cleft palate, Tooth agenesis, High palate, Microphthalmia ORPHA:1135
Adams-Oliver Syndrome
Encephalocele, Cataract, Hydrocephalus, Leukopenia, Microphthalmia, Failure to thrive, Thrombocyt... ORPHA:974
Peho Syndrome
Epicanthus, Palpebral edema, Microcephaly, Hydrocephalus, Flexion contracture, Optic atrophy, Lim... ORPHA:2836
Rhombencephalosynapsis
Microretrognathia, Septo-optic dysplasia, Aganglionic megacolon, Narrow mouth, Hydrocephalus, Abn... ORPHA:59315
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hydrocephalus, Hypoplasia of the iris, Anterior synechiae of... OMIM:614195
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Severe short stature, Short neck, Lens luxation, Ectopia lentis, Hydrocephalus, Li... OMIM:224400
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Limitation ... ORPHA:2547
Hermansky-Pudlak Syndrome 2
Smooth philtrum, Thin upper lip vermilion, Epicanthus, Absent platelet dense granules, Microcepha... OMIM:608233
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Menorrh... OMIM:231200
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract, Failure to thrive in infancy, Microcytic anemia OMIM:618805
Gaucher Disease, Perinatal Lethal
Ventriculomegaly, Everted upper lip vermilion, Microcephaly, Micrognathia, Thrombocytopenia, Sple... OMIM:608013
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Short stature, Microcephaly, Leukocoria, Cleft palate, M... OMIM:257910
Cystinosis
Short stature, Corneal opacity, Rickets, Delayed puberty, Type I diabetes mellitus, Failure to th... ORPHA:213
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Tr... OMIM:164210
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Telecanthus, Hydrocephalus, Macrocephaly ORPHA:83473
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Highly arched eyebrow, Splenomegaly, Hydrocephalus, Optic disc coloboma,... ORPHA:1454
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm, Opacification of the corneal stroma OMIM:308100
Renpenning Syndrome 1
Mandibular prognathia, Micrognathia, High palate, Short philtrum, Death in childhood, Hypospadias... OMIM:309500
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Momo Syndrome
Delayed eruption of teeth, Thick upper lip vermilion, Epicanthus, Short stature, Large for gestat... ORPHA:2563
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Short stature, Abnormality of neutrophils, Hydrocephalus, Ocular albinism, Reduced bone... ORPHA:2720
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteoscleros... OMIM:300373
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali... ORPHA:353277
Vici Syndrome
Micrognathia, Leukopenia, T lymphocytopenia, High palate, Neutropenia, Agenesis of corpus callosu... OMIM:242840
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Anemia, Arthritis, Coombs-positive h... OMIM:304790
Diamond-Blackfan Anemia 1
Short neck, Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Neutro... OMIM:105650
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Type II diabetes mellitus, Hyperglycemia, Retinal degeneration, Ptosis OMIM:520000
Pierson Syndrome
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... OMIM:609049
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Frontometaphyseal Dysplasia
Limited elbow movement, Micrognathia, Oligodontia, Spina bifida occulta, Wrist flexion contractur... ORPHA:1826
Oculodentodigital Dysplasia
Selective tooth agenesis, Uveitis, Microcornea, High palate, Joint contracture of the 5th finger,... OMIM:164200
Arachnoid Cyst
Back pain, Enlarged fossa interpeduncularis, Encephalocele, Mydriasis, Facial palsy, Hydrocephalu... ORPHA:2356
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Hypoplasia of the maxil... OMIM:167730
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia, Short neck, Micrognathia, Thin vermilion border, Long philtrum, ... ORPHA:1438
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Microcornea, Abnormal... ORPHA:2710
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone... ORPHA:848
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine grow... OMIM:613370
Phace Association
Optic nerve hypoplasia, Patent ductus arteriosus, Optic atrophy, Horner syndrome, Developmental c... OMIM:606519
Alpha-Mannosidosis, Adult Form
Osteopenia, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Macro... ORPHA:309288
Intellectual Developmental Disorder, Autosomal Dominant 65
Thick upper lip vermilion, Prominent metopic ridge, Tented upper lip vermilion, Micrognathia, Syn... OMIM:619320
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 ve... OMIM:214300
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... OMIM:269400
Immunodeficiency 46
Intermittent thrombocytopenia, Conjunctivitis, Neutropenia, Failure to thrive, Anemia OMIM:616740
Say-Barber-Miller Syndrome
Micrognathia, Patellar hypoplasia, Abnormal T cell morphology, Knee flexion contracture, Macular ... ORPHA:3132
Müllerian Aplasia And Hyperandrogenism
Short stature, Short neck, Synophrys, Obesity, Primary amenorrhea, Cleft palate, Hypoplasia of th... ORPHA:247768
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Tularemia
Brain abscess, Thrombocytopenia, Leukocytosis, Oral ulcer, Conjunctivitis, Conjunctival hyperemia... ORPHA:3392
Neuhauser Syndrome
Osteopenia, Iridodonesis, Epicanthus, Short stature, Genu recurvatum, Microcephaly, Micrognathia,... OMIM:249310
Whipple Disease
Cachexia, Splenomegaly, Insulin resistance, Hydrocephalus, Uveitis, Arthritis, Erectile dysfuncti... ORPHA:3452
Achondroplasia
Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Hydrocephalus, Disproportion... ORPHA:15
Degcags Syndrome
Osteopenia, Micrognathia, Synophrys, Leukopenia, Iron deficiency anemia, High palate, Agenesis of... OMIM:619488
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Osteopenia, Short stature, Recurrent fractures, Micrognathia, Hydroc... OMIM:112240
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Bone pain, Gingival overgrowth, Weigh... ORPHA:520
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Thrombocytopenia OMIM:613554
Miller Fisher Syndrome
Ptosis, Facial palsy, CSF pleocytosis, Anisocoria, Increased CSF protein concentration, Mydriasis ORPHA:98919
Mogs-Cdg
Absent brainstem auditory responses, Thoracic scoliosis, External genital hypoplasia, Thrombocyto... ORPHA:79330
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Abnormal nasolacrimal system morphology, Corneal opacity, Abnormal eye... ORPHA:2396
Fetal Akinesia Deformation Sequence 1
Elbow contracture, Short neck, Micrognathia, High, narrow palate, Congenital contracture, High pa... OMIM:208150
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Ventriculomegaly, Short stature, Microcephaly, Thrombocytopenia, B... ORPHA:3322
Recon Progeroid Syndrome
Joint laxity, Smooth philtrum, Prominence of the premaxilla, Short stature, Dental crowding, Micr... OMIM:620370
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... OMIM:604229
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Intermittent thrombocytopenia, Microcephaly, Perianal abscess, Cryptorchidism, Eryth... OMIM:612541
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, High, narrow palate, Abnormal pupil morphology, Os... ORPHA:286
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Intrauterine growth retardation ORPHA:295
Hypermanganesemia With Dystonia 1
Polycythemia OMIM:613280
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Juvenile cataract, Ge... ORPHA:221008
Keratoendotheliitis Fugax Hereditaria
Epiretinal membrane, Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma OMIM:148200
Craniolenticulosutural Dysplasia
Osteopenia, High palate, Bifid uvula, Long philtrum, Joint laxity, Short stature, Cryptorchidism,... OMIM:607812
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Cutis Laxa, Autosomal Dominant 3
Os odontoideum, Osteopenia, Joint laxity, Corneal opacity, Microcephaly, Postnatal growth retarda... OMIM:616603
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Smooth philtrum, Thin upper lip vermilion, Abnormally large globe, Short neck, Cryptorchidism, Sp... ORPHA:1655
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Bifid uvula, Iris coloboma, Short ... OMIM:620186
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Cryptophthalmos, Va... OMIM:248450
Nasu-Hakola Disease
Hydrocephalus, Limitation of joint mobility, Bone pain, Reduced bone mineral density, Acute leuke... ORPHA:2770
Trisomy 8P
Sacral dimple, Multiple joint contractures, Microcephaly, Short neck, Cryptorchidism, Hydrocephal... ORPHA:264450
Endocrine-Cerebroosteodysplasia
Thick upper lip vermilion, Natal tooth, Small scrotum, Hypospadias, Bilateral cleft lip, Median c... OMIM:612651
Essential Fructosuria
Abnormal erythrocyte enzyme level, Hyperglycemia ORPHA:2056
Pediatric-Onset Graves Disease
Craniosynostosis, Abnormal eyelid morphology, Microcephaly, Splenomegaly, Keratitis, Accelerated ... ORPHA:525731
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Optic atrophy, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia ORPHA:79312
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hyperextensibility of the finger joints, Craniosynostosis, Ectopia... OMIM:616914
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Atypical Werner Syndrome
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Hyp... ORPHA:79474
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Mycophenolate Mofetil Embryopathy
Micrognathia, Hydrocephalus, Orofacial cleft, Bifid thoracic vertebrae, Eyelid coloboma, Choriore... ORPHA:268249
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Epicanthus, Optic nerve hypoplasia, Narrow mouth, Optic atrophy, Macrog... ORPHA:357001
Mucolipidosis Ii Alpha/Beta
Osteopenia, Micrognathia, Death in childhood, Megalocornea, Progressive alveolar ridge hypertropy... OMIM:252500
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Micrognathia, Delayed epiphyseal ossi... OMIM:114290
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... ORPHA:209956
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Smooth philtrum, Telecanthus, Epicanthus, Ventriculomegaly, Decreased response to growth hormone ... OMIM:617260
Transaldolase Deficiency
Thrombocytopenia, Abnormality of the clitoris, Anemia, Hepatosplenomegaly ORPHA:101028
Weiss-Kruszka Syndrome
Epicanthus, Prominent metopic ridge, Exaggerated cupid's bow, Highly arched eyebrow, Broad philtr... OMIM:618619
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Epicanthus, Premature ovarian insufficiency, Autoimmune hemolytic an... OMIM:251260
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia, Intrauterine growt... OMIM:601410
Pfeiffer Syndrome Type 1
Aqueductal stenosis, High palate, Bicoronal synostosis ORPHA:93258
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia, Short stature, Ham... OMIM:311200
Mietens Syndrome
Cataract, Corneal opacity, Severe short stature, Sclerocornea, Microcephaly, Elbow dislocation, J... ORPHA:2557
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Deep philtrum, Ventriculomegaly ORPHA:289483
Short-Rib Thoracic Dysplasia 12
Natal tooth, Epicanthus, Median cleft lip, Median cleft lip and palate, Hamartoma of tongue, Shor... OMIM:269860
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Abnormal dense granules, Decreased nerve conduction ve... OMIM:214500
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema OMIM:314600
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Limitation of joint mobility, Cleft palate, High palate, Tracheomalacia ORPHA:93260
Immunodeficiency 10
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta OMIM:612783
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hepatosplenomegaly, H... ORPHA:85450
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, High palate, Fasting hypoglycem... ORPHA:769
Superficial Siderosis
Back pain, Enlarged sylvian cistern, Abnormal cerebrospinal fluid morphology, Abnormality of the ... ORPHA:247245
Myh9-Related Disease
Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Menorrhagia, Presen... ORPHA:182050
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Pearson Syndrome
Decreased response to growth hormone stimulation test, Neutropenia, Hypoparathyroidism, Reticuloc... ORPHA:699
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Thoracic scoliosis, Congenital hip dislocation, Short neck, Cleft ma... ORPHA:508488
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Hydrocephalus, High, narrow palate, Joint hyperflexibility, Shoulder dislocation, Scoli... ORPHA:2181
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Rothmund-Thomson Syndrome Type 2
Osteopenia, Joint dislocation, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Mi... ORPHA:221016
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia, ... OMIM:300200
Neuroocular Syndrome
Hyperextensibility of the finger joints, Genu recurvatum, Synophrys, Lens coloboma, Microcornea, ... OMIM:619539
Pseudoaminopterin Syndrome
Epicanthus, Short stature, Highly arched eyebrow, Limited elbow movement, Asplenia, Cryptorchidis... ORPHA:221120
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Aganglionic megacolon ORPHA:2151
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Joubert Syndrome 40
Almond-shaped palpebral fissure, Optic nerve hypoplasia OMIM:619582
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueductal stenosis, Asplenia... OMIM:306955
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Optic atrophy ORPHA:352682
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Frontometaphyseal Dysplasia 2
Hip contracture, Congenital hip dislocation, Elbow contracture, Cryptorchidism, Patent ductus art... OMIM:617137
Babesiosis
Hemolytic anemia, Splenomegaly, Limitation of joint mobility, Leukopenia, Thrombocytopenia ORPHA:108
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Smooth philtrum, Hypoglycemia, Macular coloboma, Microcephaly, Megaloblastic anemia, Thrombocytop... ORPHA:79282
Propionic Acidemia
Pancytopenia, Hypoglycemia, Short stature, Osteoporosis, Anemia, Neutropenia, Failure to thrive, ... OMIM:606054
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... ORPHA:3205
Nephronophthisis 11
Anemia, Growth delay, Anisocoria, Retinal degeneration OMIM:613550
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Retinal dystrophy, Hydrocephalus, Buphthalmos, Macrocephaly, Microphthalmia, Ventriculo... OMIM:616538
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Mydriasis, Facial palsy, CSF pleocytosis, Abnormal tha... ORPHA:79138
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Developmental And Epileptic Encephalopathy 49
Thick eyebrow, Ventriculomegaly, Tented upper lip vermilion, Microcephaly, Dysplastic corpus call... OMIM:617281
Gaucher Disease Type 1
Osteopenia, Pancytopenia, Increased bone mineral density, Hypersplenism, Kyphosis, Thrombocytopen... ORPHA:77259
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Mandibular prognathia, Neonatal hypoglycemia, Large for gestational ... ORPHA:457359
Mucopolysaccharidosis Type 2, Severe Form
Flexion contracture, Abnormal vertebral morphology, Papilledema, Short stature, Abnormal dental m... ORPHA:217085
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Micrognathia, Partial agenesis of the corpus callosum, Cleft palate, Short philtrum, Retinal neov... OMIM:619074
Xeroderma Pigmentosum
Conjunctival telangiectasia, Craniofacial hyperostosis, Entropion, Cataract, Short stature, Micro... ORPHA:910
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Growth delay, Anemia, Neutropenia, Thrombocytopenia ORPHA:289916
Bone Marrow Failure Syndrome 4
Short stature, Rhizomelia, Microcephaly, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombo... OMIM:618116
Digeorge Syndrome
Sclerocornea, Micrognathia, High, narrow palate, Parathyroid hypoplasia, Hypoplasia of the thymus... OMIM:188400
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Hydrocephalus, Splenomegaly, M... ORPHA:398124
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Short stature, Microcephaly, Optic atrophy, Anisocoria, Abnormal autonom... OMIM:231550
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning OMIM:618970
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Mandibular prognathia, Short stature, Optic nerve hypoplasia, Microcephaly, Short philtrum, Joint... OMIM:617864
Corneal Dystrophy, Reis-Bucklers Type
Palpebral edema, Corneal dystrophy, Corneal opacity, Corneal erosion, Opacification of the cornea... OMIM:608470
Muscle-Eye-Brain Disease
Cataract, Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly ORPHA:588
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short stature, Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Radioulnar syn... OMIM:171480
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Agen... OMIM:200990
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Short stature, Splenomegaly, Anemia, Failure to thrive, Reduced natural killer cell... OMIM:616050
Mucopolysaccharidosis Type 2, Attenuated Form
Flexion contracture, Abnormal vertebral morphology, Papilledema, Short stature, Abnormal dental m... ORPHA:217093
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Ventriculomegaly, Corneal opacity, Craniosynostosis, Oral mucosal blisters, Growth delay, Smooth ... ORPHA:79396
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Splenomegaly, Weig... ORPHA:507
Isolated Sedoheptulokinase Deficiency
Short stature, Flexion contracture, Hypochromic microcytic anemia, Macrocephaly, Anemia, Severe p... ORPHA:440713
Craniotubular Dysplasia, Ikegawa Type
Epicanthus, Short stature, Optic neuropathy, Increased intervertebral space, Phthisis bulbi, Opti... OMIM:619727
Moyamoya Disease 6 With Or Without Achalasia
Impotence, Thrombocytopenia OMIM:615750
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Iris atrophy, Short stature, Osteoporosis, Increased susceptibility to fractures, Ret... OMIM:259770
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Mandibular prognathia, Epicanthus, Short stature, Microcephaly, Micrognathia, Hydr... ORPHA:1908
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Flexion contracture, Microcornea, Lentiglobus, Retinal degener... ORPHA:90324
Mucolipidosis Iii Gamma
Short stature, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Genu valgum, Opacification o... OMIM:252605
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Tetrasomy 15Q26
Microretrognathia, Kyphoscoliosis, Hydrocephalus, Patent ductus arteriosus, High palate, Camptoda... OMIM:614846
Hydranencephaly
Stiff neck, Optic nerve hypoplasia, Postnatal growth retardation, Thalamic edema, Chorioretinal a... ORPHA:2177
Papillorenal Syndrome
Joint laxity, Retinal detachment, Cataract, Short stature, Morning glory anomaly, Lens luxation, ... OMIM:120330
Recessive X-Linked Ichthyosis
Cryptorchidism, Opacification of the corneal stroma ORPHA:461
Brittle Cornea Syndrome 1
Keratoconus, Joint laxity, Epicanthus, Congenital hip dislocation, Keratoglobus, Abnormal cornea ... OMIM:229200
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Smooth philtrum, Epicanthus, Telecanthus, Thin upper lip vermilion, Hydrocephalus, Op... OMIM:618590
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Paranasal sinus hypoplasia, Cryptorchidism,... OMIM:603457
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... OMIM:239300
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Back pain, High, narrow palate, Synophrys, Abnormal curvature of the vertebral col... OMIM:619475
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ... OMIM:133780
Bone Marrow Failure Syndrome 2
Microcephaly, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:615715
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Splenomegaly, Optic atrophy, Megalopapilla,... OMIM:615636
Raine Syndrome
Mandibular prognathia, Short neck, Micrognathia, High palate, Microdontia, Neonatal death, Death ... OMIM:259775
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Hydrocephalus, Chronic sinusitis, Polysplenia, Ro... ORPHA:244
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Thanatophoric Dysplasia, Type I
Short neck, Hydrocephalus, Platyspondyly, Disproportionate short-limb short stature, Macrocephaly... OMIM:187600
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Focal Facial Dermal Dysplasia Type Iv
Cleft upper lip, Microcephaly, Hydrocephalus, Cleft palate, Abnormal mast cell morphology ORPHA:398189
Combined Oxidative Phosphorylation Deficiency 14
Death in infancy, Ventriculomegaly, Microcephaly, Thrombocytopenia, Increased CSF lactate, Growth... OMIM:614946
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Optic atrophy, Wide mouth, Joint hyperflexibility, Macrocephaly, Failure to thrive... ORPHA:60040
Mowat-Wilson Syndrome
Bifid scrotum, Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Flexion contr... ORPHA:2152
Curry-Jones Syndrome
Bicoronal synostosis, Occipital meningocele, Wormian bones, Lip pit, Unicoronal synostosis, Lipom... OMIM:601707
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Thanatophoric Dysplasia Type 1
Joint stiffness, Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis, Patent ductus art... ORPHA:1860
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Chorioretinal coloboma OMIM:619111
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hydrocephalus, Secondary microcephaly ORPHA:397951
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Spontaneous hemolytic crises, Cataract, Short stature, Short neck, M... ORPHA:168577
Brucellosis
Liver abscess, Knee osteoarthritis, Leukopenia, Leukocytosis, Epididymitis, Anemia, Miscarriage, ... ORPHA:1304
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Microcephaly, Micr... ORPHA:2166
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Iris atrophy, Short stature, Long eyebrows, Cleft upper lip, Optic atrophy... OMIM:201180
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida, Macrocephaly ORPHA:1931
Tetrasomy 5P
Epicanthus, Short neck, Postnatal growth retardation, Micrognathia, Hydrocephalus, Upslanted palp... ORPHA:3309
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Chime Syndrome
Epicanthus, Corneal opacity, Abnormal dental morphology, Abnormality of the dentition, Supernumer... ORPHA:3474
Pallister-Hall Syndrome
Small scrotum, Large for gestational age, Gonadotropin deficiency, Panhypopituitarism, Hemiverteb... ORPHA:672
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Short stature, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Microcorn... ORPHA:1806
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Short neck, Micrognathia, Synophrys, Epicanthus inversus, Microdontia... OMIM:613458
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Ventriculomegaly, Short stature, Limb joint contracture, Microcephaly,... OMIM:301072
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Decreased nerve conduction velocity, Abnormal pupil morphology, Joint contracture of ... ORPHA:90658
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Bone pain, Osteoporosis, Osteolysis,... ORPHA:98850
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Broad skull, High palate, Shallow orbits, Lumbar hyperlordosis, Short ... OMIM:608328
Cole-Carpenter Syndrome
Communicating hydrocephalus, Delayed eruption of teeth, Short stature, Recurrent fractures, Abnor... ORPHA:2050
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Abnormal opti... ORPHA:3226
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmenta... OMIM:118100
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Dental crowding, Micrognathia, Insulin-resistant diabetes mellitus, Fle... OMIM:608612
Gomez-Lopez-Hernandez Syndrome
Short stature, Decreased response to growth hormone stimulation test, Craniosynostosis, Thin verm... OMIM:601853
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Flexion contracture, Bone pain, Conjunctivitis, Short stature, Epididymitis, P... OMIM:256040
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Epicanthus, Pancytopenia, Small for gestational age, Short stature, Meg... OMIM:277380
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Conical primary incisor, Blep... OMIM:602400
Coccidioidomycosis
Abnormal sperm morphology, Osteomyelitis, Abnormal retinal morphology, Abscess, Eosinophilia, Bro... ORPHA:228123
Combined Oxidative Phosphorylation Deficiency 55
Epicanthus, Ventriculomegaly, Short stature, Microcephaly, Bilateral ptosis, Thrombocytopenia, Hi... OMIM:619743
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Aicardi-Goutières Syndrome
Diabetes mellitus, Short stature, Multiple joint contractures, Microcephaly, Neonatal alloimmune ... ORPHA:51
De Sanctis-Cacchione Syndrome
Bilateral cryptorchidism, Defective DNA repair after ultraviolet radiation damage, Gonadal hypopl... OMIM:278800
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Joint laxity, Iris atrophy, Cataract, Malar flattening, Ectopia lentis, Cubitus valgus, Dental ma... OMIM:601552
Gaucher Disease, Type Iii
Pancytopenia, Short stature, Splenomegaly, Decreased body weight, Thrombocytopenia OMIM:231000
Felty Syndrome
Sinusitis, Splenomegaly, Abnormal joint morphology, Limitation of joint mobility, Osteolysis, Syn... ORPHA:47612
Galloway-Mowat Syndrome 3
Epicanthus, Short stature, Microcephaly, Micrognathia, Narrow mouth, Hip dislocation, High palate... OMIM:617729
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Immunodeficiency 91 And Hyperinflammation
Death in infancy, Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Death in child... OMIM:619644
Scheie Syndrome
Corneal opacity, Joint stiffness, Splenomegaly, Limitation of joint mobility, Wide mouth, Everted... ORPHA:93474
Meckel Syndrome, Type 4
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Bile duct pro... OMIM:611134
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia, Aplasia/Hypoplasia of the p... ORPHA:65288
Mucopolysaccharidosis Type 6
Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Splenomegaly, Kyphosis, Thick low... ORPHA:583
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Telecanthus, Camptodactyly of finger, Supernumerary nipple, Microcephaly, ... ORPHA:1236
Ablepharon Macrostomia Syndrome
Absent eyebrow, Hypoplasia of penis, Ablepharon, Corneal opacity, Camptodactyly of finger, Microd... ORPHA:920
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Joint stiffness, Splen... ORPHA:584
Achondroplasia
Death in infancy, Lumbar hyperlordosis, Rhizomelia, Limited hip extension, Hydrocephalus, General... OMIM:100800
Refsum Disease
Abnormality of retinal pigmentation, Cataract, Splenomegaly, Microphthalmia, Retinopathy, Ptosis ORPHA:773
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Thin upper lip vermilion, Hypospadias, Supernumerary nipple, Abnormality of canine, Sparse eyebro... ORPHA:477993
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Diamond-Blackfan Anemia 21
Unilateral ptosis, Short stature, Microcephaly, Micrognathia, Erythroid hypoplasia, Synophrys, Th... OMIM:620072
B4Galt1-Cdg
Thin upper lip vermilion, Small for gestational age, Splenomegaly, Hydrocephalus, Long philtrum, ... ORPHA:79332
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration, Abnormal eyelid morphology ORPHA:251915
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Recurrent sinusitis, Anemia OMIM:613101
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Papilledema, Increased bone mineral density, Severe short stature, Small for ... OMIM:127000
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Cog4-Cdg
Failure to thrive in infancy, Microcephaly, Hepatosplenomegaly, Growth delay, Thrombocytopenia ORPHA:263501
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Growth delay, Bone marrow hypocellularity, Testicular atrophy, Oral leukoplakia, Th... OMIM:613987
Cyclic Neutropenia
Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Perianal abscess, Bone pain, Or... ORPHA:2686
Muenke Syndrome
Tarsal synostosis, High, narrow palate, Hydrocephalus, Macrocephaly, Carpal synostosis, Malar fla... ORPHA:53271
Gorlin-Chaudhry-Moss Syndrome
Short stature, Sclerocornea, Abnormal eyelid morphology, Hypoplasia of the maxilla, Abnormality o... ORPHA:2095
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o... OMIM:313400
6Q Terminal Deletion Syndrome
Joint laxity, Prominent metopic ridge, Hypospadias, Highly arched eyebrow, Phimosis, Short neck, ... ORPHA:75857
Acalvaria
Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Chorioretinal coloboma, Limbal der... ORPHA:857
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Optic atrophy, Anemia, Leukopenia, Thrombocytopenia ORPHA:27
Fucosidosis
Corneal opacity, Abnormality of the dentition, Kyphosis, Anterior beaking of lumbar vertebrae, Fa... ORPHA:349
Facial Clefting, Oblique, 1
Microphthalmia, Cleft palate, Cleft upper lip OMIM:600251
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Neutrophilia, Failure to thrive in infancy, Abscess, Osteomyelitis, Splenomegaly, Ost... OMIM:612852
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Short neck, Micrognathia, High, narrow palate, High palate, Mal... OMIM:163950
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Short stature, Retinal telangiectasia, Postnatal growth retardation, Thrombocytopenia... OMIM:612199
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... ORPHA:2909
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... OMIM:182940
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide mouth, Hydrocephalus, Obesity OMIM:616521
Cardiospondylocarpofacial Syndrome
Joint laxity, Epicanthus, Telecanthus, Short stature, Tarsal synostosis, Delayed skeletal maturat... OMIM:157800
Mohr Syndrome
Telecanthus, Median cleft lip, Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia o... OMIM:252100
Stevenson-Carey Syndrome
Narrow mouth, Pierre-Robin sequence, Downturned corners of mouth, Scoliosis, Camptodactyly, Micro... OMIM:611961
Choreoacanthocytosis
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Temporomand... ORPHA:2388
Dk Phocomelia Syndrome
Encephalocele, Thrombocytopenia OMIM:223340
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Optic nerv... OMIM:615287
Porphyria, Congenital Erythropoietic
Osteopenia, Absent eyebrow, Hemolytic anemia, Erythrodontia, Short stature, Splenomegaly, Loss of... OMIM:263700
Ivic Syndrome
Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, P... OMIM:147750
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Short stature, Anterior pituitary hypoplasia, Aqueductal stenosis, Splenomegaly, Hydr... OMIM:619534
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Smooth philtrum, Megaloblastic anemia, Microcephaly, Hydrocephalus, Pigmentary retinopathy, Neutr... OMIM:277400
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Splenomegaly, Hypoplasia of the iris, Amelogenesis imperfecta, Thrombocytopenia... ORPHA:169090
Congenital Disorder Of Glycosylation, Type Iif
Microcephaly, Macrothrombocytopenia, Short philtrum, Neutropenia, Decreased platelet glycoprotein... OMIM:603585
Heart And Brain Malformation Syndrome
Prominent metopic ridge, Camptodactyly of finger, Microcephaly, High, narrow palate, Cleft lip, T... OMIM:616920
Osteopetrosis With Renal Tubular Acidosis
Micrognathia, Cranial nerve compression, Leukopenia, High palate, Prominence of the zygomatic bon... ORPHA:2785
Hydrolethalus Syndrome 2
Micrognathia, Hydrocephalus, Anencephaly, Cleft palate, Agenesis of corpus callosum, Ventriculome... OMIM:614120
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Secondary microcephaly, De... OMIM:613839
Immunodeficiency 32B
Neutrophilia, Sinusitis, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, ... OMIM:226990
Kaposiform Lymphangiomatosis
Abnormal thoracic spine morphology, Metrorrhagia, Pancreatic cysts, Thrombocytopenia, Abnormal sa... ORPHA:464329
Ciliary Dyskinesia, Primary, 1
Male infertility, Communicating hydrocephalus, Asplenia, Absent outer dynein arms, Absent frontal... OMIM:244400
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Sparse eyelashes, Microcephaly, Carious teeth, Osteoporosis, Nasol... OMIM:224230
Spastic Paraplegia 54, Autosomal Recessive
High palate, Telecanthus, Short stature, Optic nerve hypoplasia OMIM:615033
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Abnormality of th... ORPHA:906
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Rodrigues Blindness
Short stature, Sclerocornea, Microcornea, Microphthalmia, Tooth malposition OMIM:268320
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Kindler Epidermolysis Bullosa
Corneal opacity, Camptodactyly of finger, Abnormal dental enamel morphology, Phimosis, Premature ... ORPHA:2908
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Thin upper lip vermilion, Optic nerve hypoplasia, Micrognathia, Postnatal growth retardation, Nar... OMIM:620029
Rapidly Involuting Congenital Hemangioma
Avascular necrosis, Thrombocytopenia ORPHA:141184
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum, Scoliosis OMIM:617542
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Short neck, Micrognathia, Patellar hypoplasia, Knee flexion contracture, Clitoral ... OMIM:609945
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Cataract, Short stature, Thrombocytopenia, Reticulocytopenia, Gingival... ORPHA:508542
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Polycythemia, Microcephaly ORPHA:309854
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Short stature, Microcephaly, Abnormality of the dentition, Osteopo... OMIM:613989
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Amelocerebrohypohidrotic Syndrome
Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Hydrocephalus, Yel... ORPHA:1946
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia, Patent ductus arteriosus, Increased size of the... OMIM:300048
Lymphedema-Distichiasis Syndrome
Ptosis, Micrognathia, Cleft upper lip, Kyphosis, Patent ductus arteriosus, Cleft palate, Corneal ... OMIM:153400
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... ORPHA:824
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Small for gestational age, Ovoid verte... OMIM:260400
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Secondary microcephaly, Microcephaly OMIM:615599
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of the fundus, Throm... OMIM:614171
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Corneal opacity, Microcephaly, Decreased CSF albumin... OMIM:615273
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Decreased nerve cond... ORPHA:101085
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate, Hyperglycemia, Hypopituit... ORPHA:90065
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity, Short stature ORPHA:329249
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short stature, Microcephaly, Epiblepharon, Lateral ventricle dilatation, Thick eyebrow OMIM:618367
Thrombocytopenia, Paris-Trousseau Type
Micrognathia, Thrombocytopenia, Ptosis OMIM:188025
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Retinal atrophy, Cataract, Microcephaly, Micrognathia, Hydrocephalus, Optic atr... OMIM:253280
Congenital Enterovirus Infection
Ventriculomegaly, Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, CSF lymphocytic... ORPHA:292
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia ORPHA:3327
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Failure to thrive, Decreased proportion of memory B c... OMIM:618048
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... ORPHA:35858
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Xanthelasma, Corneal arcus, Sto... OMIM:210250
Ivic Syndrome
Severe short stature, Joint stiffness, Leukocytosis, Radioulnar synostosis, Rectovaginal fistula,... ORPHA:2307
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Monosomy 13Q14
Epicanthus, Cataract, Short stature, Microcephaly, Short neck, Micrognathia, Intrauterine growth ... ORPHA:1587
17Q12 Microduplication Syndrome
Microphthalmia, Synophrys, Abnormal vertebral morphology, Cleft palate ORPHA:261272
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Epicanthus, Absent nipple, Congenital hip dislocation, Hydrocephalus, Patent ductus arteriosus, H... OMIM:104350
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Short neck, Micrognathia, Synophrys, Widely spaced teeth, High palate, Mic... OMIM:612474
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Microcephaly, Submucous cleft hard palate, Retrognathia, Fused cervical vertebrae,... OMIM:619227
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Anisocoria, Downturned corners of mouth, Short philtrum, Ptosis OMIM:615510
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Hypospadias, Short statu... OMIM:304120
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Flexion contracture, Humeroradial synostosis, Hypoplastic labia majora, Lambdoidal... OMIM:207410
Frontofacionasal Dysplasia
Telecanthus, Cataract, Malar flattening, Cleft upper lip, Ankyloblepharon, Orofacial cleft, Micro... OMIM:229400
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Type II diabetes mellitus, Motor axonal neuropathy, Mydriasis ORPHA:247815
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vert... ORPHA:3109
Craniosynostosis 4
Ectopic posterior pituitary, Optic nerve hypoplasia, Sagittal craniosynostosis, Pansynostosis, La... OMIM:600775
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microcephaly, Micrognathia, Ocular albinism, Upslanted palpebral fissure, Blepharophimosis, Micro... ORPHA:1352
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Glucose ... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Glucose ... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Glucose ... ORPHA:99226
Turner Syndrome
Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Glucose ... ORPHA:881
Gaucher Disease, Type I
Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Bone pain, Anemia, Pathologic fractur... OMIM:230800
Nance-Horan Syndrome
Diastema, Developmental cataract, Microcornea, Posterior Y-sutural cataract, Mulberry molar, Supe... OMIM:302350
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... OMIM:617443
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Epicanthus, Micrognathia, Hydrocephalus, Choroid plexus cyst, Vertebral... OMIM:617866
Coffin-Siris Syndrome 12
Micrognathia, Synophrys, High palate, Joint laxity, Hypospadias, Short stature, Highly arched eye... OMIM:619325
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity, Short stature, Madelung deformity, Mesomelic short stature, Microdontia, Intraut... ORPHA:1765
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Small for gestational age, Microcephaly, Micrognathia, Arthrogryposis multiplex... OMIM:208085
Rhabdoid Tumor
Thrombocytopenia, Anemia, Weight loss ORPHA:69077
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Micrognathia, Hy... OMIM:273395
Stevens-Johnson Syndrome
Dyspareunia, Entropion, Abnormality of neutrophils, Thrombocytopenia, Corneal erosion, Weight los... ORPHA:36426
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Carney Complex
Increased body weight, Leydig cell neoplasia, Abnormal sperm motility, Ovarian serous cystadenoma... ORPHA:1359
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Microcephaly OMIM:619725
Prolidase Deficiency
Micrognathia, Splenomegaly, Anemia, High palate, Failure to thrive, Thrombocytopenia, Ptosis OMIM:170100
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te... OMIM:248370
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Oculotrichoanal Syndrome
Anophthalmia, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia, Cryptophthalmos ORPHA:2717
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Cleft upper lip, Cleft palate, Microphthalmia, Agenesis of corpus callosum OMIM:614402
Multisystemic Smooth Muscle Dysfunction Syndrome
Patent ductus arteriosus, Cryptorchidism, Retinal infarction, Mydriasis OMIM:613834
Czeizel-Losonci Syndrome
Thoracolumbar scoliosis, Spina bifida, Micrognathia, Hydrocephalus, Myelomeningocele, Upslanted p... ORPHA:2437
Retinoblastoma
Hypopyon, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocor... ORPHA:790
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Neoplasm of the o... ORPHA:543
Ophthalmoplegia, Familial Static
Anisocoria, Ptosis OMIM:165000
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Holocarboxylase Synthetase Deficiency
Growth delay, Weight loss, Thrombocytopenia, Keratoconjunctivitis ORPHA:79242
Stuve-Wiedemann Syndrome 1
Enlarged joints, Short neck, Micrognathia, Knee flexion contracture, Smooth tongue, Death in infa... OMIM:601559
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Short stature, Hyperopic astigmatism, Craniosynostosis, Irregular carpal b... OMIM:252600
Aase-Smith Syndrome I
Death in infancy, Hydrocephalus, Flexion contracture, Cleft palate, Open mouth, Dandy-Walker malf... OMIM:147800
Aicardi-Goutieres Syndrome 1
Short stature, Microcephaly, Splenomegaly, Chronic CSF lymphocytosis, Increased CSF interferon al... OMIM:225750
Shigellosis
Failure to thrive in infancy, Abscess, Hypoglycemia, Leukocytosis, Uveitis, Arthritis, Conjunctiv... ORPHA:810
Camurati-Engelmann Disease
Delayed eruption of teeth, Facial palsy, Cachexia, Hyperlordosis, Carious teeth, Kyphosis, Spleno... ORPHA:1328
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia, Intrauterine growth retardation OMIM:615665
Toxic Epidermal Necrolysis
Entropion, Thrombocytopenia, Corneal erosion, Weight loss, Conjunctivitis, Neutropenia, Abnormal ... ORPHA:537
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251000
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Short neck, Micrognathia, Decreased calvarial ossific... OMIM:619879
Intestinal Botulism
Death in infancy, Mydriasis, Ptosis ORPHA:178481
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Decreased corneal thic... OMIM:614170
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Small for gestational age, Refractory sideroblastic anemia, P... OMIM:557000
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Epicanthus, Supernumerary nipple, Short neck, Patent ductus art... OMIM:600268
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Peters anomaly, Microphthalmia, Downslanted palpebral fissures, ... OMIM:614526
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... OMIM:308240
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Pfeiffer Syndrome
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Hydrocephalus, Humeroradial sy... OMIM:101600
Rift Valley Fever
Back pain, Miscarriage, Retinitis, Thrombocytopenia, CSF pleocytosis, Retinal hemorrhage, Uveitis... ORPHA:319251
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Diabetes mellitus, Thrombocytopenia, Leukopenia, Failure to thrive, Anemia OMIM:613845
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Diaphragmatic Hernia 4, With Cardiovascular Defects
Optic nerve hypoplasia, Micrognathia, Cryptorchidism, Coronal cleft vertebrae, Macrocephaly, Down... OMIM:620025
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, Growth delay, B lymphocytopenia, Agranulocytosis, Bone... OMIM:301078
Riddle Syndrome
Conjunctival telangiectasia, Short stature, Microcephaly, Weight loss, Arthritis, Chromosomal bre... ORPHA:420741
Sea-Blue Histiocytosis
Splenomegaly, Blepharitis, Sea-blue histiocytosis, Retinopathy, Thrombocytopenia ORPHA:158029
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in childhood, Neonatal death, Absent eyebrow, Death in infancy, Hypospadias, Short stature,... OMIM:308205
Myoclonic-Astatic Epilepsy
Thin upper lip vermilion, Microcephaly, Thick lower lip vermilion, Wide mouth, Long philtrum, Mic... ORPHA:1942
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Highly arched eyebrow, Microcephaly, Thrombocytopenia, Scoliosis, Primary microcephaly, Retrognat... ORPHA:457351
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Lcat Deficiency
Hemolytic anemia, Corneal opacity ORPHA:650
Isotretinoin-Like Syndrome
Microcephaly, Postnatal growth retardation, Micrognathia, Hydrocephalus, Patent ductus arteriosus... ORPHA:2306
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Pancytopenia, Decreased nerve... ORPHA:167
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:613011
Holoprosencephaly 2
Median cleft lip and palate, Remnants of the hyaloid vascular system, Aplasia of the premaxilla, ... OMIM:157170
Knobloch Syndrome
Retinal detachment, Epicanthus, Occipital encephalocele, Cataract, Ectopia lentis, Hydrocephalus,... ORPHA:1571
Primrose Syndrome
Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Flexion contracture, Knee flexion... OMIM:259050
Tangier Disease
Peripheral axonal neuropathy, Cicatricial ectropion, Splenomegaly, Facial diplegia, Opacification... OMIM:205400
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Craniosynostosis OMIM:612247
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... OMIM:613673
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Hydrocephalus, Pituitar... ORPHA:91350
Shwachman-Diamond Syndrome 2
Normocytic anemia, Death in infancy, Short stature, Microcephaly, Hyperechogenic pancreas, Death ... OMIM:617941
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Laurin-Sandrow Syndrome
Tarsal synostosis, Cryptorchidism, Hydrocephalus, Limitation of joint mobility, Downturned corner... ORPHA:2378
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Short stature, Thick l... ORPHA:324
Arnold-Chiari Malformation Type I
Stiff neck, Myelopathy, Cranial nerve compression, Abnormality of the twelfth cranial nerve, Abno... ORPHA:268882
Steinfeld Syndrome
Absent gallbladder, Bifid uvula, Abnormality of the vertebral column, Retinal coloboma, Holoprose... OMIM:184705
Al-Gazali Syndrome
Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ... OMIM:609465
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal... ORPHA:232
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Hypospadias, Hydrocephalus, Non-midline cleft lip, Anencephaly... ORPHA:1335
Hydrolethalus Syndrome 1
Accessory spleen, Median cleft lip, Hypospadias, Bifid uterus, Micrognathia, Anencephaly, Cleft p... OMIM:236680
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Recurrent aphthous... OMIM:150550
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Optic atrophy, Abnormal cerebrospinal fluid morphology, Cataract ORPHA:314404
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Small scrotum, Congenital hip dislocation, Enlarged l... OMIM:606170
Lacrimoauriculodentodigital Syndrome
Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Bifid uvula, Incr... ORPHA:2363
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hydrocephalus, Abnormal hemoglobin, Anemia ORPHA:163596
Snakebite Envenomation
Hypopituitarism, Gingival bleeding, Thrombocytopenia ORPHA:449285
Teebi-Shaltout Syndrome
Telecanthus, Short stature, Highly arched eyebrow, Microcephaly, High, narrow palate, Narrow mout... OMIM:272950
Necrotizing Enterocolitis
Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia... ORPHA:391673
Isovaleric Acidemia
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Bone pain, Retinal hemorrh... ORPHA:86839
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Epicanthus, Cataract, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Hypoplasia of th... ORPHA:306542
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Mandibular prognathia, Epicanthus, Small scrotum, Telecanthus, Optic nerve hypoplas... OMIM:620330
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Splenomegaly, CSF pleocytosis, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocyt... OMIM:603553
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Sinusitis, Splenomegaly, Flexion contracture, Anemia, Arthritis, Conjunctiviti... OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, CSF pleocytosis, Anemia, Leukopenia, Hemophagocytosis, Failure to thrive, Increased... OMIM:267700
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Carious teeth, Osteoporosis, Hepatic necrosis, Anemia, Leukopenia, Increased mea... OMIM:127550
Limb Body Wall Complex
Encephalocele, Corneal opacity, Spina bifida, Cleft lip, Hydrocephalus, Myelomeningocele, Anencep... ORPHA:2369
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Sclerocornea, Micrognathia,... OMIM:216340
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Abnormality of the dentition, Deep anterior chamber, Microspheropha... OMIM:251750
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Micrognathia, High palate, Abnormal dental pulp morphology, Subcutaneous neurofibroma,... ORPHA:363700
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Joint laxity, Mandibular prognathia, Large for gestational age, Spar... OMIM:617011
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Platyspondyly, Opacification of the corneal stroma, Macrocephaly OMIM:601356
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Short stature, Small for gestational age, Abnormal T cell morphology, Opacification of the cornea... OMIM:215250
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Dural Sinus Malformation
Papilledema, Myelopathy, Hydrocephalus, Macrocephaly, Chemosis ORPHA:97339
Cryptococcosis
Lymphoid leukemia, Osteomyelitis, Abnormal retinal morphology, Hydrocephalus, Vitritis, Osteolysi... ORPHA:1546
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma, Cleft palate, Microphthalmia OMIM:613456
Cholesteryl Ester Storage Disease
Death in infancy, Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosp... OMIM:278000
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Hyperglycemia, Axonal degeneration, Degen... OMIM:604484
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Avian Influenza
Miscarriage, Leukopenia, Conjunctivitis, Lymphopenia, Thrombocytopenia ORPHA:454836
Alström Syndrome
Thoracic scoliosis, Abnormality of dental color, Decreased response to growth hormone stimulation... ORPHA:64
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Prim... ORPHA:2975
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Microcephaly, Splenomegaly, Hepatocellular necrosis, Growth delay, Failure to thriv... OMIM:251880
Iatrogenic Botulism
Orthostatic hypotension, Mydriasis, Ptosis ORPHA:254509
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Cleft palate, Bile duct proliferation, Microphthalmia, D... OMIM:603194
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, High palate, Bone marrow hypocellularity, Neutropenia, Failure... OMIM:614520
Cat Eye Syndrome
Epicanthus, Short stature, Micrognathia, Patent ductus arteriosus, Cleft palate, Chorioretinal co... OMIM:115470
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Loss of... ORPHA:79277
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Joint hemorrhage, Menorrhagia, Thrombocytopenia OMIM:277480
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Hip dislocation, Optic nerve hypoplasia ORPHA:572013
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, ... OMIM:606176
Van Den Ende-Gupta Syndrome
Abnormal eyebrow morphology, Sacral dimple, Dental crowding, Sclerocornea, Craniosynostosis, Micr... OMIM:600920
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... ORPHA:100026
Pyruvate Carboxylase Deficiency
Hypoglycemia, Increased CSF alanine concentration, Increased CSF citrulline concentration, Increa... ORPHA:3008
Toxin-Mediated Infectious Botulism
Mydriasis, Ptosis ORPHA:230800
Primary Sjögren Syndrome
Normocytic anemia, Lymphopenia, Parotitis, Abnormality of the peripheral nervous system, Polyarti... ORPHA:289390
Melanosis, Neurocutaneous
Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia, Arthritis OMIM:152700
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Hereditary Acrokeratotic Poikiloderma
Short stature, Camptodactyly of finger, Premature loss of primary teeth, Abnormal preputium morph... ORPHA:2907
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Microcephaly, Thrombocytop... ORPHA:79124
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Osteopenia, Hyperparathyroidism, Wide cranial sutures, Recurrent fra... OMIM:618188
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Hydrocephalus, Abnormality of the vertebral column, Neonatal death, Abnormal verte... OMIM:314390
Plasminogen Deficiency, Type I
Hydrocephalus, Gingival overgrowth, Gingivitis, Conjunctivitis, Periodontitis, Macrocephaly, Dand... OMIM:217090
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Overlap Myositis
Subluxation of the small joints of the hand, Diabetes mellitus, Limb pain, Leukopenia, Arthritis,... ORPHA:206572
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Anterior open-bite malocclusion, Abnormal autonomic nervous system physiology, Thro... ORPHA:83601
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Small for gestational age, Normochromic anemia, Cholelithiasis, Thrombocytopenia, In... OMIM:618775
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... OMIM:193235
Fish-Eye Disease
Splenomegaly, Corneal opacity ORPHA:79292
Semilobar Holoprosencephaly
Median cleft lip, Short stature, Decreased response to growth hormone stimulation test, Microceph... ORPHA:220386
Alobar Holoprosencephaly
Median cleft lip, Short stature, Decreased response to growth hormone stimulation test, Microceph... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Median cleft lip, Short stature, Decreased response to growth hormone stimulation test, Microceph... ORPHA:93926
Lobar Holoprosencephaly
Median cleft lip, Short stature, Decreased response to growth hormone stimulation test, Microceph... ORPHA:93924
Marburg Hemorrhagic Fever
Back pain, Reticulocytosis, Lymphopenia, Hypoglycemia, Orchitis, Neutrophilia in presence of infe... ORPHA:99826
Quebec Platelet Disorder
Joint hemorrhage, Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Natal tooth, Septate vagina, Short neck, Micrognathia, Hamartoma of tongue, C... OMIM:617925
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Joint dislocation, Progressive macrocephaly, Retinal hemorrhage, Inc... ORPHA:25
Tufted Angioma
Anemia, Hemangioma of the lip, Thrombocytopenia ORPHA:1063
Oeis Complex
Absence of the sacrum, Congenital hip dislocation, Bifid uterus, Epispadias, Cryptorchidism, Ambi... OMIM:258040
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Sarcoidosis
Hemolytic anemia, Cataract, Parotitis, Eosinophilia, Abnormal cerebrospinal fluid morphology, Fac... ORPHA:797
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis, Ptosis ORPHA:178478
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Wound Botulism
Mydriasis, Ptosis ORPHA:178475
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinusitis, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertili... ORPHA:786
Tick-Borne Encephalitis
Back pain, Stiff neck, Facial palsy, CSF pleocytosis, Leukocytosis, Leukopenia, Limb pain, Abnorm... ORPHA:297
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in infancy, Hypoglycemia, Thrombocytopenia, Death in childhood OMIM:611126
Costello Syndrome
Hyperextensibility of the finger joints, Epicanthus, Hypoglycemia, Short stature, Limited elbow m... OMIM:218040
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Osteomalacia, Joint hypermobility, Decreased nerve conducti... OMIM:277900
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Ophthalmomandibulomelic Dysplasia
Elbow dislocation, Temporomandibular joint ankylosis, Opacification of the corneal stroma, Decrea... OMIM:164900
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Neonatal Marfan Syndrome
Iridodonesis, Small for gestational age, Ectopia lentis, Micrognathia, High, narrow palate, Flexi... ORPHA:284979
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Brain abscess, Lip telangiectasia, Tongue telangiectasia, Choriocapi... OMIM:600376
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Death in infancy, Developmental cataract OMIM:600559
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, CSF pleocytosis, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia ORPHA:540
Olmsted Syndrome 1
Flexion contracture, Corneal opacity, Opacification of the corneal stroma OMIM:614594
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Weight loss ORPHA:90060
Catastrophic Antiphospholipid Syndrome
Miscarriage, Retinal arterial occlusion, Arthritis, Coombs-positive hemolytic anemia, Microangiop... ORPHA:464343
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia, Cataract ORPHA:454831
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Splenomegaly, Oral ulcer, Gingivitis, Ankle clonus, Neutropenia, Stomatitis, Fa... OMIM:308230
Pediatric Systemic Lupus Erythematosus
Oral ulcer, Leukopenia, Arthritis, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Foodborne Botulism
Mydriasis, Ptosis ORPHA:228371
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... ORPHA:314478
Tangier Disease
Peripheral axonal neuropathy, Corneal opacity, Hepatosplenomegaly, Anemia, Facial diplegia, Throm... ORPHA:31150
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Inhalational Botulism
Mydriasis, Ptosis ORPHA:254504
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hypocellularit... ORPHA:88
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Accessory oral frenulum, Short neck, Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palat... OMIM:616546
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus callosum OMIM:207950
Autosomal Dominant Cutis Laxa
Osteopenia, Joint laxity, Corneal opacity, Genu recurvatum, Microcephaly, Postnatal growth retard... ORPHA:90348
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Retinoblastoma
Vitritis, Leukocoria, Cleft palate, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, L... OMIM:180200
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Recurrent fractures, Craniosynostosis, Premature loss of primary teeth... ORPHA:667
Facial Spasm
Anisocoria OMIM:134300
Alternating Hemiplegia Of Childhood
Exaggerated cupid's bow, Downturned corners of mouth, Abnormal autonomic nervous system physiolog... ORPHA:2131
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Normocytic anemia, Abnormal retinal vascular morphology, Avascular necr... ORPHA:247691
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Nephronophthisis 18
Hydrocephalus, Retinitis OMIM:615862
Hemangioblastoma
Retinal capillary hemangioma, Hydrocephalus ORPHA:252054
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellit... OMIM:618858
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Osteootohepatoenteric Syndrome
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Hydrocephalus, Reduced ... OMIM:619377
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth, Corneal dystrophy, Opa... OMIM:180900
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Short stature, Retinal pigment... OMIM:219800
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Median cleft lip, Microcephaly, Orofacial cleft, Vertebral segmentation defec... ORPHA:3186
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Juvenile rheumatoid arthritis, Abnormal natu... ORPHA:158061
Dextrocardia
Congenital hip dislocation, Abnormal reproductive system morphology, Abnormality of the spleen, H... ORPHA:1666
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Failure to thrive, Glossitis, Thromb... ORPHA:90045
Isolated Permanent Neonatal Diabetes Mellitus
Prominent metopic ridge, Peripheral axonal neuropathy, Neonatal insulin-dependent diabetes mellit... ORPHA:99885
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Micrognathia, Hydrocephalus, Stillbirth, Cryptophthalmos OMIM:617667
Beta-Ketothiolase Deficiency
Hypoglycemia, Leukocytosis, Weight loss, Thrombocytosis, Hyperglycemia ORPHA:134
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, Ulnar deviation of the wrist, Hydrocephalus, Patent ductus arterio... OMIM:618162
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Deafness, X-Linked 7
Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis OMIM:301018
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr... OMIM:616084
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Short philtrum, Hypoplastic spleen, Thrombo... OMIM:185070
Atopic Keratoconjunctivitis
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... ORPHA:163934
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Failure to thrive... OMIM:251110
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Microcephaly, Hydrocephalus, Optic atrophy, Failure to thrive, Ventriculomegaly ORPHA:395
Autoimmune Lymphoproliferative Syndrome
Uveitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative... ORPHA:3261
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Brain abscess, Miscarriage, Lip telangiectasia, Tongue telangiectasi... OMIM:187300
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Delayed skel... ORPHA:391487
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Hydrocephalus, Renal tubular epithelial necrosis, Agenesis of corpus callosu... ORPHA:228308
Hepatoportal Sclerosis
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:64743
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Failure to thrive, Thrombocytopenia ORPHA:99901
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Moderate postnatal growth retardation, Glycosuria, H... ORPHA:69076
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Dengue Fever
Leukopenia, Gingival bleeding, Thrombocytopenia ORPHA:99828
Good Syndrome
Abnormal leukocyte morphology, Diabetes mellitus, Sinusitis, Anemia, Thrombocytopenia, Ptosis ORPHA:169105
Serotonin Syndrome
Abnormality of the autonomic nervous system, Mydriasis ORPHA:43116
Immune Thrombocytopenia
Gingival bleeding, Thrombocytopenia ORPHA:3002
Tyrosinemia Type 2
Malar flattening, Corneal opacity, Microcephaly ORPHA:28378
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Choroidal neovascularization, Posterior uveitis, Papilledema, Anterior chamber... ORPHA:91500
Hardikar Syndrome
Lacrimal duct stenosis, Thoracolumbar scoliosis, Short stature, Cleft soft palate, Hypersplenism,... OMIM:301068
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Microcephaly, Epispadias, Cryptorchidism, Cystocele, P... ORPHA:322
Liver Disease, Severe Congenital
Macrocephaly at birth, Joint laxity, Epicanthus, Hypospadias, Micrognathia, Biliary hyperplasia, ... OMIM:619991
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Weight loss, Abnorm... ORPHA:79078
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Conjunctival ... ORPHA:447
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Failure to thrive, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomeg... OMIM:618278
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Failure to thrive... OMIM:251100
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Immunodeficiency 22
Abscess, Thrombocytopenia, Retinal vasculitis, Decreased proportion of CD4-positive helper T cell... OMIM:615758
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Aplastic anemia, Hip dislocati... OMIM:605432
Botulism
Mydriasis ORPHA:1267
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Bile duct proliferation, Mic... OMIM:611561
Lhermitte-Duclos Disease
Macroglossia, Macrocephaly, Hydrocephalus, Ovarian neoplasm ORPHA:65285
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Papilledema, Hydrocephalus OMIM:260500
Dend Syndrome
Prominent metopic ridge, Elevated hemoglobin A1c, Bilateral ptosis, Downturned corners of mouth, ... ORPHA:79134
Gaucher Disease, Type Iiic
Splenomegaly, Hydrocephalus, Pancytopenia, Opacification of the corneal stroma OMIM:231005
Abetalipoproteinemia
Osteopenia, Abnormality of retinal pigmentation, Failure to thrive, Reticulocytosis, Kyphoscolios... ORPHA:14
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Cachexia, Microcephaly, Hydrocephalus, Optic atrophy, Retinopathy ORPHA:220295
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, Abnormal fallopian tub... ORPHA:722
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hypoglycemia, Growth delay, Hyperglycemia, Failure to thrive, Ptosis OMIM:615453
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Sepsis In Premature Infants
Small for gestational age, Thrombocytopenia, Leukocytosis, Splenomegaly, Neutropenia, Decreased b... ORPHA:90051
Ovarian Fibroma
Gonadal calcification, Odontogenic keratocysts of the jaw, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Treacher Collins Syndrome 1
Sparse lower eyelashes, Lacrimal duct stenosis, Cleft soft palate, Micrognathia, Cryptorchidism, ... OMIM:154500
Galactosialidosis
Conjunctival telangiectasia, Severe short stature, Hepatosplenomegaly, Opacification of the corne... OMIM:256540
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the upper limbs, Retinal hemorrhage, Osteolysis, O... ORPHA:464321
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Agenesis of corpus callosum, Renal tubular epithelial necrosis, Hypoketotic hypogl... ORPHA:157
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Osteomyelitis, Neuropathic arthropathy, Kerat... OMIM:256800
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Hypochromic microcytic anemia, Growth delay, Osteopetrosis, ... ORPHA:3240
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Meckel Syndrome, Type 6
Abnormal internal genitalia, Occipital encephalocele, Absent gallbladder, Cleft upper lip, Hydroc... OMIM:612284
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Parotitis, Stiff neck, Orchitis, Splenomegaly, Leukocytosis, Epididym... ORPHA:99827
Fraser Syndrome 2
Short neck, Hypoplasia of the thymus, Narrow mouth, Ambiguous genitalia, Microphthalmia, Cryptoph... OMIM:617666
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Anemia ORPHA:231111
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Leprechaunism
Enlarged ovaries, Overgrowth of external genitalia, Microcephaly, Postnatal growth retardation, L... ORPHA:508
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, High palate, Increased CSF lactate OMIM:619053
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Corneal erosion, Developmental cataract, Anterior lenticonus, Lenticonus, Thr... OMIM:301050
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Micrognathia, Thrombocytopenia, Splenomegaly, Supernumerary tooth, Osteoporosi... OMIM:619525
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Small for gestational age, Mild postnatal growth retardation, ... OMIM:224120
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Immunodeficiency 40
Growth delay, T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Cleft palate, Bile duct proliferation, Dandy-Walker malfo... OMIM:607361
Scorpion Envenomation
Hyperglycemia, Priapism, Mydriasis, Glycosuria ORPHA:466677
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Hydrocephalus, Short stature, Abnormal salivary gland morp... ORPHA:31
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Increased bone mineral density, Leukopenia, Bone marrow hypocellularity, Throm... OMIM:231095
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Small for gestational age, Hypospadias, Highly arched eyebrow, Microcephaly, Hy... OMIM:220111
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Hyperlordosis, Hydrocephalus, Absent vertebra, Myelomeni... ORPHA:63259
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Bacterial Toxic-Shock Syndrome
Osteomyelitis, Sinusitis, Abscess, Increased circulating myelocyte count, Arthritis, Septic arthr... ORPHA:36234
Holoprosencephaly 1
Hypoglycemia, Short stature, Alobar holoprosencephaly, Microcephaly, Microphthalmia, Micropenis, ... OMIM:236100
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Bifid uterus, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia,... ORPHA:2736
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... ORPHA:98957
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, CSF pleocytosis, Abnormal T cell subset distribution, Anemia, Hemopha... ORPHA:158048
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Pseudo-Torch Syndrome 3
Death in infancy, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Lysinuric Protein Intolerance
Short stature, Recurrent fractures, Thrombocytopenia, Splenomegaly, Delayed skeletal maturation, ... OMIM:222700
Gaucher Disease, Type Ii
Death in infancy, Splenomegaly, Trismus, Anemia, Failure to thrive, Thrombocytopenia OMIM:230900
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Death in infancy, Joint hypermobility, Splenomegaly, Leukope... OMIM:300972
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes OMIM:610582
Mucoepithelial Dysplasia, Hereditary
Cataract, Eosinophilia, Erythematous oral mucosa, Keratoconjunctivitis, Furrowed tongue, Opacific... OMIM:158310
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Hypospadias, Kyphoscoliosis, Hyperl... ORPHA:573278
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cataract, Hypoglycemia, Rod-cone dystrophy, Recurrent hypoglycemia, Neonatal death, Hyperglycemia... OMIM:124000
Fanconi-Bickel Syndrome
Osteopenia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Growth delay, Fasting hypogly... ORPHA:2088
Basal Cell Nevus Syndrome 2
Hydrocephalus, Neurofibroma, Macrocephaly OMIM:620343
Medulloblastoma
Back pain, Hydrocephalus, Progressive macrocephaly, Delayed cranial suture closure, Abnormal cran... ORPHA:616
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovari... OMIM:151660
Weill-Marchesani Syndrome 4
Iridodonesis, Short stature, Ectopia lentis, Joint stiffness, Shallow anterior chamber, Posterior... OMIM:613195
Lujo Hemorrhagic Fever
Stiff neck, Leukocytosis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319213
Adams-Oliver Syndrome 1
Encephalocele, Supernumerary nipple, Microcephaly, Cleft upper lip, Cleft palate, Microphthalmia,... OMIM:100300
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Ankle swelling, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... ORPHA:3260
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia OMIM:246400
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Epicanthus, Patent ductus arteriosus ORPHA:2184
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Microcephaly, Thrombocytopenia, Splenomegaly, Weight loss, Arthri... OMIM:615846
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Bifid uterus, Micro... OMIM:107480
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Familial Thoracic Aortic Aneurysm And Aortic Dissection
High, narrow palate, Patent ductus arteriosus, Abnormality iris morphology, Scoliosis, Retrognathia ORPHA:91387
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Short stature, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive ORPHA:2089
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Ganglioneuroma, Short stature, Decreased response to growth hormone stimulation test, Accelerated... ORPHA:293987
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis, Increased body weight, Abdominal obesity, Macronodular adrenal hyperplasia, Hypergl... OMIM:615954
Multiple System Atrophy 1, Susceptibility To
Iris atrophy, Orthostatic hypotension, Impotence, Abnormal autonomic nervous system physiology, P... OMIM:146500
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Collagenoma, Familial Cutaneous
Iris atrophy, Primary testicular failure OMIM:115250
Gaucher Disease Type 3
Pancytopenia, Increased bone mineral density, Splenomegaly, Delayed skeletal maturation, Bone pai... ORPHA:77261
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Hellp Syndrome
Back pain, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body ... ORPHA:244242
Q Fever
Osteomyelitis, Splenomegaly, Hepatosplenomegaly, Anemia, Weight loss, Granuloma, Thrombocytopenia ORPHA:781
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Lymphangioleiomyomatosis
Retinal hamartoma, Hydrocephalus, Abnormal morphology of female internal genitalia, Optic atrophy ORPHA:538
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Arachnoiditis
Hydrocephalus ORPHA:137817
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Cataract, Adrenal hyperplasia, Opacification of the corneal stroma ORPHA:3453
Thoracoabdominal Syndrome
Hypospadias, Cleft upper lip, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Cleft palate OMIM:313850
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hydrocephalus, Cataract, Neonatal hypoglycemia OMIM:261740
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Vexas Syndrome
Arthritis, Macrocytic anemia, Thrombocytopenia OMIM:301054
Loeys-Dietz Syndrome 1
Joint laxity, Craniosynostosis, Micrognathia, Hydrocephalus, Patent ductus arteriosus, Cleft pala... OMIM:609192
Caroli Syndrome
Liver abscess, Hypersplenism, Conjunctival icterus, Leukocytosis, Leukopenia, Abnormal ductus cho... ORPHA:480520
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... ORPHA:288
Lysinuric Protein Intolerance
Osteopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia, Delayed skel... ORPHA:470
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
Kikuchi-Fujimoto Disease
Palpebral edema, Thrombocytopenia, Splenomegaly, Oral ulcer, Weight loss, Enlargement of parotid ... ORPHA:50918
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Sacral Defect With Anterior Meningocele
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Hydrocephalus, Myelomeningocele, Meni... OMIM:600145
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Splenomegaly, Conjunctival icterus, Increased mean corpuscular hemoglobin concen... OMIM:194380
Isolated Posterior Meningocele
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Inc... ORPHA:268810
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Short stature ORPHA:1861
Thrombocytopenia 6
Osteoporosis, Thrombocytopenia OMIM:616937
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Cleft palate, Micrognathia OMIM:243440
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Cocaine Intoxication
Mydriasis ORPHA:90068
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Choroidal neovascularization, Failure to thrive in infancy, Osteomalacia... ORPHA:51608
Systemic Lupus Erythematosus
Hemolytic anemia, Oral ulcer, Cheilitis, Abnormal pigmentation of the oral mucosa, Leukopenia, Ar... ORPHA:536
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Fanconi-Bickel Syndrome
Osteomalacia, Postnatal growth retardation, Rickets, Fasting hypoglycemia, Glycosuria, Postprandi... OMIM:227810
Loeys-Dietz Syndrome 2
Joint laxity, Protrusio acetabuli, Craniosynostosis, Micrognathia, Hydrocephalus, Patent ductus a... OMIM:610168
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Abnormal autonomic nervous system physiology, Thrombocytopenia ORPHA:94093
Plague
Chapped lip, Splenomegaly, Abnormality of the elbow, Arthritis, Conjunctival hyperemia, Glossitis... ORPHA:707
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Anemia, Weight loss ORPHA:160
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Mydriasis OMIM:619351
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Failure to thrive, Blepharitis, Thrombocytopenia OMIM:617718
Hemorrhagic Fever-Renal Syndrome
Back pain, Leukocytosis, Anemia, Decreased body weight, Thrombocytopenia ORPHA:340
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Septic arthritis, Thrombocytopenia ORPHA:544482
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Annular pancreas, Intrauterine growth retardation, Hypergl... OMIM:615710
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia, Cryptophthalmos, Ankyloblepharon OMIM:123570
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:90038
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Blue Rubber Bleb Nevus
Iron deficiency anemia, Pathologic fracture, Thrombocytopenia OMIM:112200
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Short stature, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Delayed skel... ORPHA:77293
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Diabetes mellitus, Microcephaly, Patent ductus arteriosus, Cervical ribs, Gly... OMIM:600001
Leptospirosis
Papilledema, Retinal hemorrhage, Uveitis, Chorioretinitis, Optic neuritis, Macular cotton wool sp... ORPHA:509
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Cole Disease
Hyperglycemia OMIM:615522
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Retinal hamartoma, Pancreatic endocrine tumor, Pituitary adenoma, P... ORPHA:805
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Gingival overgrow... OMIM:221800
Ciliary Dyskinesia, Primary, 43
Chronic sinusitis, Noncommunicating hydrocephalus OMIM:618699
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Apolipoprotein A-I Deficiency
Xanthelasma, Opacification of the corneal stroma ORPHA:425
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Thrombocytopenia OMIM:254900
Autosomal Recessive Polycystic Kidney Disease
Micrognathia, Hypersplenism, Splenomegaly, Biliary hyperplasia, Pancreatic cysts, Hepatosplenomeg... ORPHA:731
Acute Liver Failure
Hypoglycemia, Hepatic necrosis, Hepatocellular necrosis, Hepatic periportal necrosis, Thrombocyto... ORPHA:90062
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Thrombocytopenia 1
Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm... OMIM:313900
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hyperglycemia OMIM:615812
Isolated Arrhinia
Microphthalmia, Eyelid coloboma, Hypoplasia of the nasal bone ORPHA:1134
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Yellow Fever
Low back pain, Neutrophilia, Pancreatic hyperplasia, Leukocytosis, Thrombocytopenia ORPHA:99829
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Obesity, Abnormality of peripheral nerve conduction, Weight loss ORPHA:79102
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia, Opacification of t... 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

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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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