Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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

View all 204 images

View all 9 images

View all 7 images

View all 6 images

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Microphthalmia, Syndromic 3
Postnatal growth retardation, Cryptorchidism, Anophthalmia, Agenesis of corpus callosum, Anterior... OMIM:206900
Martsolf Syndrome 2
Cataract, Lateral ventricle dilatation, Camptodactyly of finger, Decreased body weight, Hypogonad... OMIM:619420
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Cach Syndrome
Cataract, Optic atrophy, Growth delay, Lateral ventricle dilatation, Gonadal dysgenesis, Hepatosp... ORPHA:135
48,Xxyy Syndrome
Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchidism, Radioulna... ORPHA:10
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Microcornea, Optic atrophy, Failure to thrive, External genital hypopla... OMIM:600118
Microphthalmia/Coloboma 12
Ventriculomegaly, Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasi... OMIM:120200
14Q22Q23 Microdeletion Syndrome
Small scrotum, Ventriculomegaly, Downturned corners of mouth, Delayed skeletal maturation, Downsl... ORPHA:264200
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Ventriculomegaly, Hypoglycemia, Malar prominence, Intrauterine growth reta... ORPHA:48431
Congenital Disorder Of Glycosylation, Type Iig
Shallow acetabular fossae, Giant platelets, Lateral ventricle dilatation, Postnatal growth retard... OMIM:611209
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Retrognathia, Hypogonadism, Narrow mouth, Upslanted palpebral fissure, Mic... ORPHA:2528
Cofs Syndrome
Cataract, Optic atrophy, Camptodactyly of finger, Hypogonadism, Joint stiffness, Micrognathia, In... ORPHA:1466
Walker-Warburg Syndrome
Cryptorchidism, Anophthalmia, Agenesis of corpus callosum, Retinal detachment, Chorioretinal dysp... ORPHA:899
Pierpont Syndrome
Microcornea, Ventriculomegaly, Widely spaced teeth, Telecanthus, Microphthalmia, Malar flattening... ORPHA:487825
Trisomy 13
Cryptorchidism, Anophthalmia, Displacement of the urethral meatus, Abnormal retinal vascular morp... ORPHA:3378
Bilateral Striopallidodentate Calcinosis
Ventriculomegaly, Intrauterine growth retardation, Microcephaly, Thrombocytopenia, Corneal opacity ORPHA:1980
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Fanconi Anemia, Complementation Group S
Chromosome breakage, Dental malocclusion, Failure to thrive, Thick upper lip vermilion, Macrodont... OMIM:617883
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Hypospadias, Growth delay, Cryptorchidism, Anophthalmia, Agenesis ... ORPHA:77298
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Ventriculomegaly, Delayed skeletal maturation,... ORPHA:99330
Intellectual Developmental Disorder, Autosomal Dominant 48
Highly arched eyebrow, Lateral ventricle dilatation, Dilated fourth ventricle, Intrauterine growt... OMIM:617751
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Carious teeth, Micrognathia, Cryptorchidism, Death in childhood, A... OMIM:214150
Pierpont Syndrome
Abnormal peripheral nervous system morphology, Unilateral narrow palpebral fissure, Cryptorchidis... OMIM:602342
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Optic atrophy, Intrauterine growth retardation, Micrognathia, Retinopathy,... OMIM:616171
Cockayne Syndrome Type 2
Male hypogonadism, Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of th... ORPHA:90322
Adams-Oliver Syndrome 2
Optic atrophy, Lateral ventricle dilatation, Micrognathia, Microphthalmia, Microcephaly, Hydrocep... OMIM:614219
N Syndrome
Abnormality of chromosome stability, Hypospadias, Cryptorchidism OMIM:310465
Fanconi Anemia, Complementation Group O
Chromosome breakage, External genital hypoplasia, Cryptorchidism, Neonatal death OMIM:613390
Cockayne Syndrome Type 1
Postnatal growth retardation, Cryptorchidism, Anophthalmia, Delayed eruption of primary teeth, An... ORPHA:90321
Bresek Syndrome
Growth delay, Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, Neonata... ORPHA:85284
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Agenesis of corpus callosum, Hypospadias, Downslanted palpebral fissures, Butterf... OMIM:301056
Bone Marrow Failure Syndrome 3
Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Cryptorchidism, Oral ul... OMIM:617052
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Ventriculomegaly, Abnormality of chromosome stability, Aplastic an... OMIM:300514
Proteus-Like Syndrome
Genu recurvatum, Cataract, Mandibular prognathia, Thymus hyperplasia, Abnormality of the parathyr... ORPHA:2969
Kbg Syndrome
Long philtrum, Delayed skeletal maturation, Persistent open anterior fontanelle, Macrodontia, Tel... ORPHA:2332
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Eyelid coloboma, Cryptorchidism, Agenesis of corpus callosum, Orbital... OMIM:164180
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Cry... ORPHA:534
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Upslanted pa... OMIM:609637
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation, Oligodontia, Thin upper lip vermilion, Long palpebral fissure, Shor... OMIM:618330
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Lateral ventricle dilatation, Downslanted palpebral fissures, Bicoro... OMIM:618736
Holoprosencephaly
Chorioretinal coloboma, Abnormality of the spleen, Cryptorchidism, Anophthalmia, Encephalocele, E... ORPHA:2162
Alg2-Cdg
Cataract, Lateral ventricle dilatation, Downslanted palpebral fissures, Microcephaly, Epicanthus,... ORPHA:79326
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Micrognathia, Cryptorchidism, Epicanthus, Weight loss, Microphth... ORPHA:84
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Optic nerve hypoplasia, Decreased response to growth hormone stimula... OMIM:609053
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Postnatal growth retardation, Cryptorchidism, Agenesis of corpus callosum... OMIM:243310
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Upslanted palpebral fissure, Hypoplasia of the fovea, Microcephaly, Epicanthus, Pt... OMIM:620086
Ring Chromosome 21 Syndrome
Thoracic hemivertebrae, Azoospermia, Microcephaly, Amenorrhea, Fused thoracic vertebrae, Short st... ORPHA:1445
Short Syndrome
Insulin resistance, Abnormality of the dentition, Severe short stature, Abnormal mandible morphol... ORPHA:3163
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Male urethral meatus stenosis, Agenesis of... ORPHA:464738
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Obesity, Cubitus valgus, Short neck, Hydrocephalus, Short statu... ORPHA:2183
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Lateral ventricle dilatation, Long philtrum, Downslanted palpebral fissures, Retinal pi... OMIM:614105
Aarskog-Scott Syndrome
Megalocornea, Cryptorchidism, Epicanthus, Short neck, Everted lower lip vermilion, Hypoplasia of ... ORPHA:915
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
8P11.2 Deletion Syndrome
Micrognathia, Cryptorchidism, Epicanthus, Spherocytosis, Blepharophimosis, High palate, Iris colo... ORPHA:251066
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Cryptorchidism, Anophthalmia, Neonatal death, Microphthalmia, Bicornu... OMIM:615524
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Microphthalmia, Microcephaly, Anemia, Neutropenia, Thrombocy... OMIM:614082
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Chorioretinal coloboma, Anophthalmia, Orofacial cleft, Microphthalmia, ... OMIM:611638
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit OMIM:616428
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Maternal Uniparental Disomy Of Chromosome X
Camptodactyly of finger, Azoospermia, Agenesis of corpus callosum, Microcephaly, Short neck, Ambi... ORPHA:261519
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
1Q21.1 Microduplication Syndrome
Cataract, Arthrogryposis multiplex congenita, Failure to thrive, Cryptorchidism, Hydrocephalus, M... ORPHA:250994
Down Syndrome
Keratoconus, Atlantoaxial dislocation, Narrow mouth, Protruding tongue, Open mouth, Acute megakar... ORPHA:870
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Cryptorchidism, Anophthalmia, Agenesis of corpus c... ORPHA:139471
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Ventriculomegaly, Increased mean corpuscular volume, Long philtrum, Microg... ORPHA:261250
Aicardi Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Postnatal growth retardation, Prominence o... OMIM:304050
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
3Q29 Microdeletion Syndrome
Cataract, Abnormality of the dentition, Dental crowding, Failure to thrive, Downslanted palpebral... ORPHA:65286
Koolen-De Vries Syndrome
Cryptorchidism, Epicanthus, Everted lower lip vermilion, Blepharophimosis, Hypospadias, Hip dislo... ORPHA:96169
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Optic disc hypoplasia, Downslanted palpebral fiss... ORPHA:420179
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
49,Xxxxy Syndrome
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... ORPHA:96264
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Cerebrooculonasal Syndrome
Postnatal growth retardation, Anophthalmia, Encephalocele, Sparse eyelashes, Epicanthus, High pal... OMIM:605627
Koolen-De Vries Syndrome
Open mouth, Cryptorchidism, Epicanthus, Everted lower lip vermilion, Blepharophimosis, High palat... OMIM:610443
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Azoospermia, Obesity, Type II diabetes mellitus, Oligozoospermia, Infertility OMIM:615703
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Wide mouth, Lateral ventricle dilatation, Bilateral cryptorchidism OMIM:300982
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Lateral ventricle dilatation, Failure to thrive in infancy, Intrauteri... ORPHA:284417
Proboscis Lateralis
Chorioretinal coloboma, Unilateral narrow palpebral fissure, Anophthalmia, Abnormal nasolacrimal ... ORPHA:141099
Galactosialidosis
Abnormal vertebral morphology, Cherry red spot of the macula, Abnormality of the vertebral column... ORPHA:351
Cerebrooculofacioskeletal Syndrome 3
Ventriculomegaly, Intrauterine growth retardation, Micrognathia, Agenesis of corpus callosum, Mic... OMIM:616570
Intellectual Developmental Disorder, Autosomal Dominant 70
Cataract, Hypoplasia of the maxilla, Short palpebral fissure, Highly arched eyebrow, Retrognathia... OMIM:620157
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Large for gestational age, Median cleft palate, Corneal opacity, Microphthalmia ORPHA:2432
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Micrognathia, Death in infancy, Primary microcephaly, Joint contrac... OMIM:618266
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Hypopigmentation of the fundus, Myelomeningocele, Telecanthus, Thick eye... OMIM:193500
Microphthalmia With Limb Anomalies
Postnatal growth retardation, Anophthalmia, Blepharophimosis, Microphthalmia, High palate, Hip di... OMIM:206920
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation, Increased CSF lactate, Decreased nerve conduction velocity, Intraut... ORPHA:565624
Prader-Willi Syndrome Due To Translocation
Carious teeth, Lateral ventricle dilatation, Micrognathia, Short neck, Everted lower lip vermilio... ORPHA:177907
Charcot-Marie-Tooth Disease Type 1B
Increased CSF protein concentration, Peripheral dysmyelination, Decreased nerve conduction veloci... ORPHA:101082
Chromosome 2P16.1-P15 Deletion Syndrome
Joint contracture of the hand, Postnatal growth retardation, Cryptorchidism, Epicanthus, Everted ... OMIM:612513
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Gómez-López-Hernández Syndrome
Telecanthus, Hydrocephalus, Corneal opacity, Thin vermilion border, Short stature ORPHA:1532
Congenital Rubella Syndrome
Cataract, Type I diabetes mellitus, Intrauterine growth retardation, Microphthalmia, Aplasia/Hypo... ORPHA:290
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Ventriculomegaly, Decreased thalamic volume, Abnormality iris morphology, Optic atrophy... ORPHA:370959
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Folate-dependent fragile site at Xq28 OMIM:300624
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Microcephaly, Male hypogonadism, Azoospermia OMIM:241000
Mosaic Trisomy 1
Short upper lip, Microretrognathia, Lateral ventricle dilatation, Thick lower lip vermilion, Camp... ORPHA:1692
Bainbridge-Ropers Syndrome
Lateral ventricle dilatation, Supernumerary nipple, Micrognathia, Cryptorchidism, Epicanthus, Eve... OMIM:615485
Alpha-Mannosidosis
Synostosis of joints, Cataract, Craniofacial hyperostosis, Dental malocclusion, Delayed skeletal ... ORPHA:61
Trisomy 1Q
Small scrotum, Ventriculomegaly, Microretrognathia, Camptodactyly of finger, Downslanted palpebra... ORPHA:261344
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Failure to thrive, Camptodactyly of finger, Downslanted pa... ORPHA:1617
48,Xxxy Syndrome
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... ORPHA:96263
Vacterl With Hydrocephalus
Microcornea, Absence of the sacrum, Retrognathia, Abnormal form of the vertebral bodies, Abnormal... ORPHA:3412
Ataxia-Telangiectasia
Abnormality of chromosome stability, Failure to thrive, Lymphopenia, Type II diabetes mellitus, P... ORPHA:100
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Ventriculomegaly, Extra-axial cerebrospinal fluid accumulation, Kypho... OMIM:618291
Alexander Disease
Increased CSF protein concentration, Death in childhood, Death in infancy, Progressive macrocepha... OMIM:203450
48,Xyyy Syndrome
Male hypogonadism, Long philtrum, Thick lower lip vermilion, Dislocated radial head, Azoospermia,... ORPHA:99329
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse eyebrow, Lateral ventricle dilatation, Long philtrum, Thick lower lip vermilion, Downslant... OMIM:620075
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Abnormal thalamus morphology, Downslanted palpebral fissures, Conge... ORPHA:300570
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Lateral ventricle dilatation, Cryptorchidism OMIM:616816
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Microphthalmia With Linear Skin Defects Syndrome
Clitoral hypertrophy, Micrognathia, Anophthalmia, Agenesis of corpus callosum, Abnormal nasolacri... ORPHA:2556
Combined Oxidative Phosphorylation Deficiency 54
Microretrognathia, Secondary microcephaly, Hyperglycemia, Obesity, Intrauterine growth retardatio... OMIM:619737
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Dilated third ventricle, Lateral ventricle dilatation, Long philtrum, Tent... OMIM:619244
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Thrombocytopenia OMIM:209970
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Lateral ventricle dilatation OMIM:615889
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Congenital Hydrocephalus
Optic atrophy, Ventriculomegaly, Downslanted palpebral fissures, Macular hypoplasia, Colpocephaly... ORPHA:2185
Oculodentodigital Dysplasia, Autosomal Recessive
Micrognathia, Narrow mouth, Sparse eyelashes, Epicanthus, Microphthalmia, Cataract, Microcornea, ... OMIM:257850
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Microretrognathia, Microcephaly, Hydrocephalus, Macrocephaly, Flexion contracture,... OMIM:300884
Gorlin Syndrome
Abnormal vertebral morphology, Cataract, Mandibular prognathia, Carious teeth, Vertebral wedging,... ORPHA:377
Noonan Syndrome 14
High, narrow palate, Sparse eyebrow, Lateral ventricle dilatation, Long philtrum, Downslanted pal... OMIM:619745
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Sclerosis of hand bone, Hypogonadism... ORPHA:2905
Winchester Syndrome
Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Arthropathy, Corneal o... OMIM:277950
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism, Decreased body weight, Ret... OMIM:620371
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology, Ventriculomegaly, Microcephaly, Hydrocephalus, Macrocephaly OMIM:618709
Kniest Dysplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Abnormal joint morphology, S... ORPHA:485
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Distal Deletion 10Q
Lateral ventricle dilatation, Postnatal growth retardation, Micrognathia, Epicanthus, High palate... ORPHA:96148
Warburg Micro Syndrome 3
Small scrotum, Secondary microcephaly, Postnatal growth retardation, Micrognathia, Blepharophimos... OMIM:614222
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus, Macro... OMIM:600348
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Orbital craniosynostosis, Micrognathia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Micrognathia, Narrow mouth, Cryptorchidism, Agenesis of corpus callosum, Epicanthus, Aqueductal s... OMIM:619512
Emanuel Syndrome
Tooth malposition, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, High palate, Patent... ORPHA:96170
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Fumarase Deficiency
Optic atrophy, Ventriculomegaly, Conjunctival icterus, Polycythemia, Mitochondrial swelling, Fail... OMIM:606812
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Micrognathia, Cryptorchidism, Su... ORPHA:2189
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Basal Cell Nevus Syndrome 1
Cataract, Mandibular prognathia, Vertebral wedging, Cleft upper lip, Microphthalmia, Ovarian carc... OMIM:109400
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Micropenis, Histiocytosis, Delayed skeletal maturation, De... ORPHA:168569
Slc35A2-Cdg
Precocious puberty, Osteopenia, Lateral ventricle dilatation, Camptodactyly of finger, Failure to... ORPHA:356961
Charge Syndrome
Chorioretinal coloboma, Postnatal growth retardation, Narrow mouth, Cryptorchidism, Anophthalmia,... ORPHA:138
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Lateral ventricle dilatation, Downturned corners of mouth, Dilated fourth ventr... OMIM:613443
Ring Chromosome Y Syndrome
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... ORPHA:261529
Alagille Syndrome
Keratoconus, Abnormal form of the vertebral bodies, Delayed skeletal maturation, Downslanted palp... ORPHA:52
Mosaic Trisomy 9
Limitation of joint mobility, Elbow dislocation, Micrognathia, Cryptorchidism, Short neck, Microp... ORPHA:99776
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Failure to thrive, Thick upper lip vermilion, Macrodontia, Long eye... OMIM:618606
Temple Syndrome
Precocious puberty, Bifid uvula, Recurrent hypoglycemia, Decreased response to growth hormone sti... ORPHA:254516
Meckel Syndrome, Type 8
Occipital encephalocele, Cleft upper lip, Anophthalmia, Encephalocele, Microcephaly, Short neck, ... OMIM:613885
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Increased CSF lactate, Abnormal CSF pyruvate fami... ORPHA:79243
Microphthalmia, Syndromic 2
Cryptorchidism, Laterally curved eyebrow, Contracture of the proximal interphalangeal joint of th... OMIM:300166
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Optic atrophy, Contractures of the large joints, Lateral ventricle di... ORPHA:3078
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Kyphoscoliosis, Microcephaly, Ptosis, Microphthalmia, Short ... OMIM:300915
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Multiple non-erupting ... OMIM:620277
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Ventriculomegaly, Optic atrophy, Peters anomaly, Chorioretinal coloboma, Postnatal g... ORPHA:494344
Cohen Syndrome
Micrognathia, Open mouth, Cryptorchidism, Genu valgum, Neutropenia, Microphthalmia, Iris coloboma... ORPHA:193
2P15P16.1 Microdeletion Syndrome
Supernumerary nipple, Narrow mouth, Epicanthus, Everted lower lip vermilion, Blepharophimosis, Pa... ORPHA:261349
Den Hoed-De Boer-Voisin Syndrome
Carious teeth, Lateral ventricle dilatation, Secondary microcephaly, Decreased body weight, Yello... OMIM:619229
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Long philtrum, Thick lower lip vermilio... OMIM:152950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Macroglossia, Ventriculomegaly, Peters anomaly, Congenital contracture, Cleft upper lip... OMIM:613150
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Lateral ventricle dilatation, Bilateral microphthalmos ORPHA:77299
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic atrophy, Micrognathia, Cryptorchidism, Upslanted palpebral fissure, Peripheral ax... ORPHA:496790
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Retrognathia, Long philtrum, Decreased response to growth hormone stimulation test, Dec... ORPHA:280679
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Radioulnar synostosi... OMIM:194190
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Lumbar hypolordos... OMIM:271530
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Growth delay, Pancytopenia, Micrognathia, Le... ORPHA:99812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Ventriculomegaly, Elbow contracture, Microcephaly, Hyperlordosis, Vertebral fusion, Achilles tend... OMIM:606612
Lateral Meningocele Syndrome
Micrognathia, Cryptorchidism, Short neck, High palate, Patent ductus arteriosus, Downslanted palp... OMIM:130720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Ventriculomegaly, Death in childhood, Agenesis of corpus callosum, Retinal detachment, ... OMIM:613153
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Retinal pigment epithelial mottling, Tented upper lip vermilion, De... OMIM:619517
Verheij Syndrome
Small for gestational age, Growth delay, Retrognathia, Long philtrum, Intrauterine growth retarda... OMIM:615583
Distal Deletion 6P
Abnormality of the dentition, Ventriculomegaly, Downturned corners of mouth, Hypoplasia of the ir... ORPHA:96125
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Thrombocytopenia, Agenesis of corpus callosum OMIM:166990
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Temple Syndrome
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Relative macrocephaly, Dec... OMIM:616222
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Short palpebral fissure, Ventriculomegaly, Astigmatism, Cryptorchidism, Upslanted pa... OMIM:617159
Aicardi-Goutieres Syndrome 9
Optic atrophy, Lateral ventricle dilatation, Failure to thrive, Hepatosplenomegaly, Intrauterine ... OMIM:619487
Jacobsen Syndrome
Chorioretinal coloboma, Micrognathia, Cryptorchidism, Epicanthus, Short neck, Microphthalmia, Hol... OMIM:147791
Helsmoortel-Van Der Aa Syndrome
Carious teeth, Lateral ventricle dilatation, Ankyloglossia, Genu valgum, Cryptorchidism, Epicanth... OMIM:615873
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Optic atrophy, Chorioretinal coloboma, Bilateral cleft palate, Posterior embryotoxon, P... ORPHA:1473
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Lateral ventricle dilatation, Optic nerve hypoplasia OMIM:618890
Craniosynostosis 6
Lateral ventricle dilatation, Right unilambdoid synostosis, Delayed cranial suture closure, Bicor... OMIM:616602
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Micrognathia, Retinal detachment, High palate, Cataract, Long eyelashes, Colpocephaly, Optic atro... OMIM:619833
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Congenital Toxoplasmosis
Ventriculomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Abnormality of r... ORPHA:858
Anophthalmia Plus Syndrome
Eyelid coloboma, Anophthalmia, Vertebral segmentation defect, Bilateral cleft palate, Blepharophi... ORPHA:1104
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Intrauterine growth retardation, Narrow mouth, Reduced bon... ORPHA:2370
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Chorioretinal dysplasia, Microphthalmia OMIM:616335
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Agenesis of corpus callosum, Hydrocephalus, Thrombocytopenia, Anemia, Partial a... OMIM:619302
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Anterior wedging of T12, Deficient excision of UV-induced pyrimidine... OMIM:227645
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sparse eyebrow, Dilated third ventricle, Retrognathia, Lateral ventricle dilatation, Bilateral cr... ORPHA:544488
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation, Supernumerary nip... ORPHA:397715
Zika Virus Disease
Ankle swelling, Wrist swelling, Optic disc hypoplasia, Retinal pigment epithelial mottling, Intra... ORPHA:448237
Immunodeficiency 54
Adrenocorticotropic hormone excess, Chromosome breakage, Adrenal insufficiency OMIM:609981
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Lateral ventricle dilatation, Long philtrum, Supernumerary nipple, Do... ORPHA:457279
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Hyperlordosis, Hydrocephalus, Macroc... OMIM:303350
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Joint stiffness, Hyperlordosis,... ORPHA:577
Hemiparkinsonism-Hemiatrophy Syndrome
Scoliosis, Lateral ventricle dilatation ORPHA:306669
Sanjad-Sakati Syndrome
Abnormality of the dentition, Patchy osteosclerosis, Ventriculomegaly, Long philtrum, Delayed ske... ORPHA:2323
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Ventriculomegaly, Secondary microcephaly, Cryptorchidism, Death in infancy, Neonatal de... OMIM:613730
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Retinal coloboma, Hypogonadism, Obesity, Cryptorchidism, Hydrocephalus, Rod-cone dystro... OMIM:601794
Norrie Disease
Uterine rupture, Cryptorchidism, Abnormal vitreous humor morphology, Cachexia, Abnormal retinal v... ORPHA:649
Fanconi Anemia, Complementation Group D2
Pancytopenia, Cryptorchidism, Agenesis of corpus callosum, Blepharophimosis, Neutropenia, Microph... OMIM:227646
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Cryptorchidism, Anophthalmia, Bilateral c... OMIM:610829
Alexander Disease
Precocious puberty, Osteopenia, Failure to thrive, Agenesis of corpus callosum, Short neck, Ptosi... ORPHA:58
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Retinal dystrophy, Cryptorchidism, Anophthalm... OMIM:610125
Xp22.3 Microdeletion Syndrome
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia affect... ORPHA:1643
Weaver Syndrome
Joint contracture of the hand, Scoliosis, Kyphosis, Retrognathia, Lateral ventricle dilatation, L... OMIM:277590
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation, Tented upper lip vermilion, Upslanted palpebral fissure, Thin upper... OMIM:615716
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Retrognathia, Micrognathia, Joint contracture of the 5th finger, Jo... OMIM:618914
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Osteopenia, Microphthalmia, Increased susceptibility to fractures, J... ORPHA:2788
Joubert Syndrome 3
Highly arched eyebrow, Pigmentary retinopathy, Enlarged fossa interpeduncularis, Lateral ventricl... OMIM:608629
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Erythrokeratodermia Variabilis
Cataract, Microcephaly, Weight loss, Corneal opacity, Abnormal testis morphology, Short stature, ... ORPHA:317
Meckel Syndrome
Micrognathia, Cryptorchidism, Anophthalmia, Encephalocele, Male pseudohermaphroditism, Microphtha... ORPHA:564
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Cataract, Microcornea, Rhizomelia, Long philtrum, Ectopia pupillae, Cryptopht... OMIM:615877
Deleted in azoospermia
Azoospermia OMIM:400003
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus, Macrocephaly OMIM:615938
Ogden Syndrome
Palpebral thickening, Everted upper lip vermilion, Delayed cranial suture closure, Thick upper li... OMIM:300855
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Cataract, Rhizomelia, Downturned corners of mouth, Micrognathia, Agenesis of corpu... ORPHA:93267
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Ventriculomegaly, Retrognathia, Long philtrum, Secondary microcephaly, Tel... OMIM:614583
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Macrocephaly at birth, Orofacial cleft, Hydrocephalus,... ORPHA:324416
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Long eyelashes, Telecanthus, Thick eyebrow, Anophthalmia, Everted lower lip vermilion, Abnormal s... ORPHA:411986
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Supernumerary nipple, Postnatal growth retardation, Micrognathia, Epicanthus, Short neck, Beaking... OMIM:213980
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Osteopenia, Delayed skeletal maturation, Decreased response to gro... ORPHA:91348
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hydrocephalus, Microphthal... ORPHA:141333
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Postnatal growth retardation, Azoosperm... OMIM:210900
Megalencephaly, Autosomal Dominant
Hydrocephalus, Macrocephaly OMIM:155350
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Microcephaly, Lateral ventricle dilatation, Death in infancy OMIM:617668
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Trisomy 9P
Dental crowding, Downturned corners of mouth, Kyphosis, Downslanted palpebral fissures, Impacted ... ORPHA:236
Polyrrhinia
Abnormal third ventricle morphology, Orofacial cleft, Lateral ventricle dilatation ORPHA:141091
Martsolf Syndrome 1
Tooth malposition, Micrognathia, Cryptorchidism, Epicanthus, Microphthalmia, Finger joint hypermo... OMIM:212720
Pontocerebellar Hypoplasia, Type 1A
Microcephaly, Congenital contracture, Lateral ventricle dilatation, Degeneration of anterior horn... OMIM:607596
Atypical Teratoid Rhabdoid Tumor
Limitation of joint mobility, Hydrocephalus, Macrocephaly ORPHA:99966
Gapo Syndrome
Keratoconus, Micrognathia, Dysmenorrhea, Decreased skull ossification, Sparse eyelashes, Everted ... ORPHA:2067
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Macrocephaly OMIM:615937
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hypospadias, Intrauterine growth retardation, Micrognathia, Wide mouth, Astigmatism, Upslanted pa... ORPHA:363686
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Megalocornea, Micrognathia, Cryptorchidism, Agenesis of corpus callosum,... OMIM:236670
X-Linked Intellectual Disability, Wilson Type
Mandibular prognathia, Growth delay, Lateral ventricle dilatation, Microcephaly, Thick vermilion ... ORPHA:85290
Cog5-Cdg
Joint contracture of the hand, Lateral ventricle dilatation, Retrognathia, Camptodactyly of finge... ORPHA:263487
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Agenesis of corpus callosum, Hydrocephalus, Thrombocytopenia, Chronic neutropenia OMIM:619301
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Abnormally prominent line of Schwalbe, Ventriculomegaly, Abnormality o... OMIM:109120
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Growth delay, Agenesis of permanent teeth, Microcephaly, Chromosomal... OMIM:617244
Pineocytoma
Increased CSF protein concentration, Abnormal eyelid morphology, Hydrocephalus ORPHA:251912
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Short palpebral fissure, Lateral ventricle dilatation, Long philtrum, Hooded... OMIM:612863
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Rhizomelia, Abnormality of macular pigmentation, Dental malocclusion, Optic disc c... OMIM:608940
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormone challenge,... OMIM:101800
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Abnormal hemoglobin, Decreased skull ossification, Short n... ORPHA:3319
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Limitation of joint mobility, Growth delay, Ocular albinism, Ect... ORPHA:2719
Lowry-Maclean Syndrome
Megalocornea, Micrognathia, Delayed eruption of primary teeth, Hypospadias, High, narrow palate, ... ORPHA:2409
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Vertebral segmentation defect, Short neck, Short s... ORPHA:2578
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Hypogonadism, Abnormality of the ovary, Decreased testicular size, Joint hypermobility,... ORPHA:1875
Microcephaly With Cervical Spine Fusion Anomalies
Short stature, Microcephaly, Vertebral fusion, Spinal instability OMIM:251250
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Azoospermia, Decreased motor nerve conduction velocity, Hy... OMIM:613724
Cornelia De Lange Syndrome 5
Postnatal growth retardation, Micrognathia, Cryptorchidism, Short neck, High palate, Downturned c... OMIM:300882
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Long philtrum, Secondary microcephaly, Open mouth, Upslanted palpeb... OMIM:617854
Cerebrooculonasal Syndrome
Hypoplasia of penis, Sparse eyebrow, Long philtrum, Widely spaced teeth, Upslanted palpebral fiss... ORPHA:66625
Duane Retraction Syndrome
Chorioretinal coloboma, Micrognathia, Short neck, Everted lower lip vermilion, Blepharophimosis, ... ORPHA:233
Glutamine Deficiency, Congenital
Lateral ventricle dilatation, Neonatal death, Camptodactyly, Thin vermilion border, Decreased CSF... OMIM:610015
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Camptodactyly of finger, Intrauterine growth retardation, Micrognathia, ... OMIM:610756
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplastic female external genitalia, Ventriculomegaly, Long philtrum, Long eyelashes, Micrognat... OMIM:618577
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Downslanted palpebral fissures, Micrognathia, Open mouth, Epicanthus, Abnormal oral cavity morpho... ORPHA:1516
Rabin-Pappas Syndrome
Cataract, Short palpebral fissure, Highly arched eyebrow, Retrognathia, Tracheomalacia, Downslant... OMIM:620155
Tatton-Brown-Rahman Syndrome
Ventriculomegaly, Horizontal eyebrow, Everted upper lip vermilion, Talipes valgus, Thick eyebrow,... OMIM:615879
Keratoconus Posticus Circumscriptus
Keratoconus, Cleft upper lip, Limited elbow extension and supination, Short neck, Central posteri... OMIM:244600
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatosplenomegaly, Micrognathia, Pancytopenia, Optic disc pallor, ... OMIM:259720
47,Xyy Syndrome
Varicocele, Azoospermia, Malar flattening, Cryptorchidism, Congenital stationary night blindness,... ORPHA:8
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormal dental morphology, Malar prominence, Micrognathia, Mic... ORPHA:2522
Normosmic Congenital Hypogonadotropic Hypogonadism
Non-obstructive azoospermia, Cryptorchidism, Increased female libido, Primary amenorrhea, Female ... ORPHA:432
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Conical tooth, Supernumerary vertebrae, Cleft upper lip, Supernumerar... OMIM:263750
Bloom Syndrome
Micrognathia, Abscess, Sparse eyelashes, Abnormal proportion of CD8-positive T cells, Acute myelo... ORPHA:125
Aicardi Syndrome
Precocious puberty, Optic atrophy, Block vertebrae, Ventriculomegaly, Sparse lateral eyebrow, Cle... ORPHA:50
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Elbow dislocation, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Macr... ORPHA:2916
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Cryptorchidism, Death in childhood, Microcephaly, Primary microceph... OMIM:619847
Greig Cephalopolysyndactyly Syndrome
Keratoconus, Joint contracture of the hand, Ventriculomegaly, Delayed cranial suture closure, Dow... OMIM:175700
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Elevated circulating luteinizing hormone level, Retrognathia, Long philtrum, Decreased ... OMIM:300845
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Ankyloblepharon, Anophthalmia, Microphthalmia ORPHA:85275
Hemochromatosis, Type 2A
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Arthritis, Infertility OMIM:602390
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Secondary microcephaly, Malar flattening, Joint hypermobility, Kyphoscoliosis,... OMIM:614727
Pelvis-Shoulder Dysplasia
Micrognathia, Thick anterior alveolar ridges, Dislocated radial head, Iris coloboma, Microcornea,... ORPHA:2839
Temtamy Syndrome
Highly arched eyebrow, Ventriculomegaly, Ectopia lentis, Dental crowding, Long philtrum, Downslan... OMIM:218340
X-Linked Intellectual Disability, Najm Type
Cataract, Optic atrophy, Failure to thrive, Long philtrum, Chorioretinal coloboma, Micrognathia, ... ORPHA:163937
Microcephaly-Micromelia Syndrome
Short palpebral fissure, Intrauterine growth retardation, Micrognathia, Narrow mouth, Humeroradia... OMIM:251230
Stromme Syndrome
Accessory spleen, Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Micrognathi... OMIM:243605
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Downslanted palpebral fissures, Joint hypermobility, Progressive macrocephaly, ... OMIM:602501
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Hec Syndrome
Abnormal pupil morphology, Abnormal retinal vascular morphology, Vaginal hydrocele, Developmental... ORPHA:2119
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Microphthalmia, Cryptorc... OMIM:227650
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Dental crowding, Lateral ventricle dilatation, Partial agenesis of the c... OMIM:617296
Trisomy 17P
Micrognathia, Narrow mouth, Short neck, High palate, Patent ductus arteriosus, Cataract, Downslan... ORPHA:261290
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Clitoral hypertrophy, Ventriculomegaly, Retrognathia, Downslanted palpebra... OMIM:616449
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Radioulnar synostosis, Retinal detachment, Microphthalmia, Iris c... ORPHA:2712
Fg Syndrome Type 1
Slender build, Micrognathia, Open mouth, Cryptorchidism, Progressive flexion contractures, High p... ORPHA:93932
Zellweger Syndrome
Cataract, Clitoral hypertrophy, Optic atrophy, Failure to thrive, Micrognathia, Epiphyseal stippl... ORPHA:912
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Chromosome breakage, Hypoplastic sacrum, Intrauterine growth retarda... OMIM:614083
Triploidy
Cataract, Hypospadias, Intrauterine growth retardation, Micrognathia, Narrow mouth, Wide mouth, C... ORPHA:3376
Kabuki Syndrome 1
Abnormal vertebral morphology, Anoperineal fistula, Lateral ventricle dilatation, Postnatal growt... OMIM:147920
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Failure to thrive, Microphallus, Decreased response to growth hormon... OMIM:603467
Emanuel Syndrome
Micrognathia, Cryptorchidism, Delayed eruption of primary teeth, High palate, Patent ductus arter... OMIM:609029
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Ptosis, Tented upper lip vermilion, Lateral ventricle dilatation, Long philtrum OMIM:619972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Ventriculomegaly, Dilated third ventricle, Posterior synechiae of the anterior cha... OMIM:613154
Marden-Walker Syndrome
Joint contracture of the hand, Postnatal growth retardation, Micrognathia, Narrow mouth, Cryptorc... OMIM:248700
Sandestig-Stefanova Syndrome
Highly arched eyebrow, Ventriculomegaly, Retrognathia, Sparse medial eyebrow, Intrauterine growth... OMIM:618804
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Micrognathia, Narrow mouth, Enc... ORPHA:90652
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Ve... OMIM:277300
Knobloch Syndrome 1
Occipital encephalocele, Epicanthus, Retinal detachment, Optic disc pallor, Patent ductus arterio... OMIM:267750
Pettigrew Syndrome
Optic atrophy, Ventriculomegaly, Wide mouth, Microcephaly, Hydrocephalus, Calvarial osteosclerosi... OMIM:304340
Acrofacial Dysostosis 1, Nager Type
Velopharyngeal insufficiency, Micrognathia, Radioulnar synostosis, Aqueductal stenosis, Hip dislo... OMIM:154400
Gabriele-De Vries Syndrome
Abnormality of the dentition, Sparse eyebrow, Lateral ventricle dilatation, Thick lower lip vermi... OMIM:617557
Microphthalmia, Syndromic 8
Microcornea, Mandibular prognathia, Short palpebral fissure, Cleft upper lip, Cryptorchidism, Mic... OMIM:601349
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Osteopenia, Scoliosis, Optic nerve hypoplasia, Failure to thrive, Disproportionate shor... OMIM:222765
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly, Primary microcephaly, Short stature, Growth delay OMIM:614019
Myhre Syndrome
Limitation of joint mobility, Enlarged vertebral pedicles, Narrow mouth, Cryptorchidism, Short ne... OMIM:139210
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic hemivertebrae, Micrognathia, Agenesis of corpus callosum, Abnormal optic disc morphology... ORPHA:508498
Lig4 Syndrome
Failure to thrive, Pancytopenia, Type II diabetes mellitus, Astigmatism, Chronic sinusitis, Crypt... OMIM:606593
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Long philtrum, Thick lower lip vermilion, Downslanted palpebral fissures, Large for gestational a... ORPHA:137634
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Abcd Syndrome
Abnormal auditory evoked potentials, Polycythemia, Hypopigmentation of the fundus, Large for gest... OMIM:600501
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormality of the dentition, Periodontitis, Hydrocephalus, Gingivitis, Abnormal eyelash morphology ORPHA:1008
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Polymicrogyria Due To Tubb2B Mutation
Microcephaly, Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism ORPHA:908
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Dysplastic corpus callosum, Microcephaly, Corneal opacity, O... OMIM:252650
Myopathy, Tubular Aggregate, 1
Flexion contracture, Abnormal pupil morphology, Joint contracture OMIM:160565
Bilateral Generalized Polymicrogyria
Short stature, Microcephaly, Growth delay, Lateral ventricle dilatation ORPHA:208447
Shashi-Pena Syndrome
Highly arched eyebrow, Ventriculomegaly, Kyphosis, Retrognathia, Hypoglycemia, Long eyelashes, In... OMIM:617190
Khan-Khan-Katsanis Syndrome
Lymphopenia, Micrognathia, Epiblepharon, Neutropenia, Peters anomaly, Patent ductus arteriosus af... OMIM:618460
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Sparse lateral eyebrow, Widely spaced teeth, Micrognathia, Astigmatism, Knee flexion co... OMIM:619694
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal growth retardation, G... OMIM:253220
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Synostosis of carpal bones, Elbow dislocation... ORPHA:1106
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Failure to thrive, Hypogonadism, Cryptorchidism, Micro... ORPHA:500055
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
3C Syndrome
Chorioretinal coloboma, Postnatal growth retardation, Micrognathia, Short neck, Hypospadias, Iris... ORPHA:7
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Hypoplasia of the maxilla, Abnormal optic nerve morphology, Long philtrum, M... ORPHA:1101
Gombo Syndrome
Microcephaly, Delayed puberty, Microphthalmia OMIM:233270
Fryns Microphthalmia Syndrome
Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Unicornuate uterus, Ne... OMIM:600776
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Widely spaced primary teeth, Decreased testicular size, Panhypopituitarism, Wide ... OMIM:300953
Icf Syndrome
Abnormality of chromosome stability, Lymphopenia, Micrognathia, Communicating hydrocephalus, Prot... ORPHA:2268
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Microphthalmia, Cryptorc... OMIM:600901
White-Sutton Syndrome
Hypoplastic cervical vertebrae, Micrognathia, Short neck, Rod-cone dystrophy, High palate, Iris c... OMIM:616364
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:604213
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Dental crowding, Exaggerated median tongue furrow, Hyperplasia of the maxilla, Lum... ORPHA:313892
Gm1 Gangliosidosis
Cherry red spot of the macula, Hepatosplenomegaly, Narrow mouth, Abnormal scrotum morphology, Wei... ORPHA:354
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microcephaly, Hydrocephalus, Developmental cataract, Microphthalmia, Macroglossia, Flexion contra... OMIM:613155
1Q44 Microdeletion Syndrome
Ventriculomegaly, Growth delay, Optic disc hypoplasia, Telecanthus, Micrognathia, Upslanted palpe... ORPHA:238769
Mucous Membrane Pemphigoid
Gingivitis, Oral mucosal blisters, Corneal opacity ORPHA:46486
Chromosome 6Pter-P24 Deletion Syndrome
Narrow mouth, Axenfeld anomaly, Agenesis of corpus callosum, Epicanthus, Posterior embryotoxon, S... OMIM:612582
Microphthalmia/Coloboma 4
Microphthalmia, Microcornea, Orbital cyst OMIM:251505
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Megalocornea, Subluxation of the small joints of the hand, Microgn... ORPHA:536471
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Lateral ventricle dilatation, Failure to thrive, Lacrimal duct atresi... OMIM:300952
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Abnormality of the dentition, Downturned corners of mouth, Campt... ORPHA:284160
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Secondary microcephaly, Lymphopenia, Pancytopenia, Micrognathia, Open mouth, Epicanthus, High pal... OMIM:620654
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Albers-Schönberg Osteopetrosis
Abnormality of the dentition, Optic atrophy, Carious teeth, Mandibular osteomyelitis, Joint dislo... ORPHA:53
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Failure to thrive, Hypoglycemia, Downslanted palpebral fissures, Dea... OMIM:620609
Neurocardiofaciodigital Syndrome
Cataract, Sparse eyebrow, Small for gestational age, Lateral ventricle dilatation, Retrognathia, ... OMIM:619869
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lateral ventricle dilatation, Secondary microcephaly, Micrognathia, Narrow mouth, Hip contracture... OMIM:300868
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Small for gestational age, Horizontal eyebrow, Failure to thrive, Diastema, Dec... OMIM:609757
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Short neck, Tarsal synostosis, Popliteal pterygium, Cervical ... OMIM:178110
Paganini-Miozzo Syndrome
Lateral ventricle dilatation, Downturned corners of mouth, Downslanted palpebral fissures, Malar ... OMIM:301025
Intellectual Developmental Disorder, Autosomal Dominant 52
Downturned corners of mouth, Bilateral cryptorchidism, Lumbar hyperlordosis, Open mouth, Astigmat... OMIM:617796
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Pathologic fracture, Peripheral demyelination, Lateral ventricle dilatation, Axonal loss OMIM:221770
Takenouchi-Kosaki Syndrome
Cryptorchidism, Hypospadias, Patent ductus arteriosus, Sparse eyebrow, Downturned corners of mout... OMIM:616737
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Optic atrophy, Micrognathia, Narrow mouth, Cryptorchidism, Agenesis of cor... ORPHA:3301
Forsythe-Wakeling Syndrome
Delayed skeletal maturation, Decreased body weight, Microcephaly, Thrombocytopenia, Short stature... OMIM:613606
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Abnormal form of the vertebral bodies, Abnormality of the uterus, Intrauterine... ORPHA:1788
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Giant Axonal Neuropathy 1, Autosomal Recessive
Sensory axonal neuropathy, Lateral ventricle dilatation, Motor axonal neuropathy, Decreased numbe... OMIM:256850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Retinal detachment, Hydrocephalus, Microphthalmia, Optic nerve hypoplasia OMIM:615181
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Fried Syndrome
Abnormal optic nerve morphology, Hydrocephalus, High palate, Short philtrum, Scoliosis ORPHA:85335
Cartilage-Hair Hypoplasia
Epicanthus, Short neck, Neutropenia, Abnormal bone ossification, Sparse eyebrow, Abnormality of c... ORPHA:175
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Thoracic hemivertebrae, Micrognathia, Cryptorchidism, Epicanthus,... OMIM:268310
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Agenesis of corpus callosum, Microcephaly, Microphthalmia, Grow... OMIM:274270
Multiple Sulfatase Deficiency
Cataract, Optic atrophy, Joint stiffness, Thick eyebrow, Splenomegaly, Abnormality of peripheral ... ORPHA:585
Harel-Yoon Syndrome
Optic atrophy, Mandibular prognathia, Micrognathia, Upslanted palpebral fissure, Peripheral axona... OMIM:617183
Noonan Syndrome 4
Sparse eyebrow, Dental malocclusion, Delayed skeletal maturation, Downslanted palpebral fissures,... OMIM:610733
Mirage Syndrome
Hypospadias, Microphallus, Hypoglycemia, Lymphopenia, Leukopenia, Decreased testicular size, Intr... OMIM:617053
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Amegakaryocytic thrombocytopenia ORPHA:71289
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Genu valgum, Astigmatism, Patellar subluxation, Hydrocephalus, Macrocephaly, Mandi... OMIM:248000
Wars2-Related Combined Oxidative Phosphorylation Defect
Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle, Intrauterine growth ret... ORPHA:572798
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Hemochromatosis, Type 1
Azoospermia, Glucose intolerance, Splenomegaly, Arthropathy, Hypogonadotropic hypogonadism, Ameno... OMIM:235200
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Failure to thrive, Hypoglycemia, Microcephaly, Thrombocytopenia ORPHA:67048
Smith-Kingsmore Syndrome