Gene Summary

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

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.

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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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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
Cach Syndrome
T2 hypointense thalamus, Arthrogryposis multiplex congenita, Progressive macrocephaly, Growth del... ORPHA:135
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Osteoporosis, Camptodactyly of finger, Abnormality of peripheral nerve conduction, Kyp... ORPHA:48431
Cofs Syndrome
Camptodactyly of finger, Abnormality of retinal pigmentation, Arthrogryposis multiplex congenita,... ORPHA:1466
Warburg Micro Syndrome 1
Cryptorchidism, Joint hypermobility, Thin vermilion border, Narrow mouth, Micrognathia, Osteoporo... OMIM:600118
Gorlin Syndrome
Scoliosis, Cryptorchidism, Carious teeth, Mandibular prognathia, Iris coloboma, Epicanthus, Hemiv... ORPHA:377
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, Upslanted palpebral fissure, High palate, Epicanthus, Growth delay, Cataract, Micro... ORPHA:2528
48,Xxyy Syndrome
Scoliosis, Cryptorchidism, Carious teeth, Open bite, Abnormal dental enamel morphology, Elbow dis... ORPHA:10
Walker-Warburg Syndrome
Cryptorchidism, Chorioretinal dysplasia, Iris coloboma, Corneal opacity, Anophthalmia, Hydrocepha... ORPHA:899
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Ventriculomegaly, Growth delay, ... OMIM:120200
14Q22Q23 Microdeletion Syndrome
Cryptorchidism, Agenesis of corpus callosum, Downturned corners of mouth, Ventriculomegaly, Scrot... ORPHA:264200
Pierpont Syndrome
Scoliosis, Cryptorchidism, Thin vermilion border, Joint laxity, Widely spaced teeth, Ventriculome... ORPHA:487825
Bilateral Striopallidodentate Calcinosis
Ventriculomegaly, Corneal opacity, Thrombocytopenia, Cerebral calcification, Intrauterine growth ... ORPHA:1980
Fanconi Anemia, Complementation Group S
Narrow palate, Ovarian neoplasm, Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Long ... OMIM:617883
49,Xyyyy Syndrome
Scoliosis, Large carpal bones, Developmental cataract, Male hypogonadism, Azoospermia, Radioulnar... ORPHA:99330
Cockayne Syndrome Type 2
Scoliosis, Cryptorchidism, Developmental cataract, Male hypogonadism, Enamel hypoplasia, Delayed ... ORPHA:90322
Trisomy 13
Scoliosis, Cryptorchidism, Iris coloboma, Patent ductus arteriosus, Anophthalmia, High, narrow pa... ORPHA:3378
Bresek Syndrome
Scoliosis, Cryptorchidism, Growth delay, Iris coloboma, Aganglionic megacolon, Hemivertebrae, Neo... ORPHA:85284
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Joint laxity, Type II lissencephaly, Congenital fibrosis of extraocular muscles, Postnatal growth... ORPHA:300570
Cockayne Syndrome Type 1
Scoliosis, Cryptorchidism, Enamel hypoplasia, Male hypogonadism, Mandibular prognathia, Postnatal... ORPHA:90321
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Delayed closure of the anterior fontanelle, Agenesis of corpus callosum, Lambdoidal cr... OMIM:618736
Pierpont Syndrome
Scoliosis, Cryptorchidism, Thin vermilion border, Unilateral narrow palpebral fissure, Narrow pal... OMIM:602342
Combined Oxidative Phosphorylation Defect Type 39
Scoliosis, Cryptorchidism, Congenital foot contractures, Neonatal hypoglycemia, Corpus callosum a... ORPHA:565624
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Sparse eyebrow, Mandibular prognathia, Downslanted palpebral fissures, Dilated third v... ORPHA:464738
Kbg Syndrome
Scoliosis, Cryptorchidism, Oligodontia, Long philtrum, Widely-spaced maxillary central incisors, ... ORPHA:2332
8P11.2 Deletion Syndrome
Cryptorchidism, Iris coloboma, Patent ductus arteriosus, High palate, Supernumerary ribs, Microgn... ORPHA:251066
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Abnormal vertebral morphology, Hydrocephalus, Holoprosencephaly, Growth delay, Ir... ORPHA:77298
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Abnormal vertebral morphology, Hypergonadotropic hypogonadis... OMIM:300514
Ring Chromosome 21 Syndrome
Scoliosis, Infertility, Azoospermia, Amenorrhea, Holoprosencephaly, Fused thoracic vertebrae, Tho... ORPHA:1445
Aicardi Syndrome
Scoliosis, Prominence of the premaxilla, Postnatal growth retardation, Hemivertebrae, Dilated thi... OMIM:304050
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Craniosynostosis, Arthrogryposis multiplex congenita, Corneal opacity, Small for ... OMIM:301056
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Micrognathia, Cerebral atrophy, Cataract, Microcornea, Microphthalmia, Short sta... OMIM:616171
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Growth delay, Neutropenia, Thrombocytopenia, Microphthalmia,... OMIM:614082
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Cryptorchidism, Hypothalamic hamartoma, Hypoplasia of the corpus callosum, ... OMIM:206900
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Fanconi Anemia
Scoliosis, Cryptorchidism, Patent ductus arteriosus, Weight loss, Bicornuate uterus, Leukopenia, ... ORPHA:84
Holoprosencephaly
Scoliosis, Cryptorchidism, Spinal dysraphism, Iris coloboma, Failure to thrive in infancy, Solita... ORPHA:2162
49,Xxxxy Syndrome
Scoliosis, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Open bite, Elbow dis... ORPHA:96264
Malan Overgrowth Syndrome
Scoliosis, Accelerated skeletal maturation, Narrow mouth, Optic disc hypoplasia, Hypoplasia of th... ORPHA:420179
Mental Retardation, Autosomal Dominant 48
Highly arched eyebrow, Open mouth, Hypoplasia of the corpus callosum, Dilated fourth ventricle, P... OMIM:617751
Proteus-Like Syndrome
Open bite, Macrocephaly, Communicating hydrocephalus, Heterochromia iridis, Hydrocephalus, Downsl... ORPHA:2969
Oculocerebrocutaneous Syndrome
Cryptorchidism, Congenital hip dislocation, Hypoplasia of the corpus callosum, Orbital cyst, Clef... OMIM:164180
Baraitser-Winter Syndrome 1
Cryptorchidism, Iris coloboma, Patent ductus arteriosus, Postnatal growth retardation, Oral cleft... OMIM:243310
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Agenesis of corpus callosum, Absent septum p... OMIM:609053
Chromosome 2P16.1-P15 Deletion Syndrome
Cryptorchidism, Camptodactyly, Cortical dysplasia, Downslanted palpebral fissures, High palate, D... OMIM:612513
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Joint hyperflexibility, Posterior embryoto... ORPHA:3163
Maternal Uniparental Disomy Of Chromosome X
Scoliosis, Ambiguous genitalia, Cubitus valgus, Camptodactyly of finger, Azoospermia, Thin vermil... ORPHA:261519
16Q24.3 Microdeletion Syndrome
Scoliosis, Cryptorchidism, Highly arched eyebrow, Long philtrum, Biparietal narrowing, Hypoplasia... ORPHA:261250
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Cryptorchidism, Open bite, Carious teeth, Narrow palate, Chorioretinal dysplasia, Join... ORPHA:534
Mosaic Trisomy 1
Camptodactyly of finger, Penile hypospadias, Agenesis of corpus callosum, Thick lower lip vermili... ORPHA:1692
Warburg Micro Syndrome 3
Narrow palate, Downturned corners of mouth, Scrotal hypoplasia, Postnatal growth retardation, Cer... OMIM:614222
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Micrognathia, Hypoplasia of the corpus callosum, Cerebral white matter hypoplas... ORPHA:284417
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Microcephaly, Male hypogonadism, Azoospermia OMIM:241000
Aarskog-Scott Syndrome
Cryptorchidism, Oral cleft, Megalocornea, Downslanted palpebral fissures, Short neck, Hypoplasia ... ORPHA:915
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism, Delayed sk... OMIM:229070
Slc35A2-Cdg
Scoliosis, Joint hypermobility, Craniosynostosis, Hip subluxation, Cerebral white matter atrophy,... ORPHA:356961
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Long philtrum, Thin vermilion border, Arthrogryposis multiplex congenita, Blepharop... OMIM:214150
3Q29 Microdeletion Syndrome
Short philtrum, Dental crowding, Joint hyperflexibility, High palate, Everted lower lip vermilion... ORPHA:65286
Koolen-De Vries Syndrome
Scoliosis, Cryptorchidism, Abnormal dental enamel morphology, Narrow palate, High, narrow palate,... ORPHA:96169
Congenital Hydrocephalus
Hydrocephalus, Downslanted palpebral fissures, Ventriculomegaly, Iris coloboma, Macular hypoplasi... ORPHA:2185
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, Patent duct... ORPHA:290
Hydrocephalus-Obesity-Hypogonadism Syndrome
Cubitus valgus, Azoospermia, Hypergonadotropic hypogonadism, Short stature, High, narrow palate, ... ORPHA:2183
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Holoprosencephaly, Iris coloboma, Bilateral microphthalmos, Oral cleft, M... OMIM:611638
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Temple Syndrome
Scoliosis, Cryptorchidism, Maturity-onset diabetes of the young, Joint hypermobility, Overweight,... OMIM:616222
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia, Agenesis of maxillary lateral inciso... OMIM:210900
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Chorioretinal coloboma, Agenesis of corpus callosum, Macrocephaly, Hydrocephalus, Dilation of lat... OMIM:300864
Mental Retardation, Buenos Aires Type
Curly eyelashes, Carious teeth, Hydrocephalus, Cuboid-shaped thoracolumbar vertebral bodies, Mand... OMIM:249630
Vacterl With Hydrocephalus
Cryptorchidism, Spina bifida, Abnormal form of the vertebral bodies, Arrhinencephaly, Aqueductal ... ORPHA:3412
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Cryptorchidism, Camptodactyly, Failure to thrive in infancy, Postnatal growth retardat... OMIM:611209
Distal Monosomy 10Q
Craniosynostosis, Patent ductus arteriosus, Postnatal growth retardation, Spina bifida occulta, D... ORPHA:96148
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Cryptorchidism, High palate, Iris coloboma, Retinal dystrophy, Cataract, ... ORPHA:139471
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia, Insulin resistance, Type II diabetes mellitus, Obesity OMIM:615703
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Prader-Willi Syndrome Due To Translocation
Scoliosis, Carious teeth, Downturned corners of mouth, Patent ductus arteriosus, Anterior pituita... ORPHA:177907
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology, Ventriculomegaly, Abnormal corpus callosum morphology, Cortical dy... OMIM:618709
Charge Syndrome
Scoliosis, Cryptorchidism, Narrow mouth, Iris coloboma, Patent ductus arteriosus, Postnatal growt... ORPHA:138
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Hypoplasia of the corpus call... ORPHA:79243
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Macroglossia, Abnormality iris morphology, Type II lissenceph... ORPHA:370959
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Abnormal dental enamel morphology, Narrow mouth, Hypoplasia of teeth, Dent... OMIM:257850
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Galactosialidosis
Cherry red spot of the macula, Abnormality of the vertebral column, Corneal opacity, Abnormal ver... ORPHA:351
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Ambiguous genitalia, Hydrocephalus OMIM:209970
Poems Syndrome
Sclerosis of hand bone, Thrombocytosis, Erectile dysfunction, Polycythemia, Sclerotic vertebral e... ORPHA:2905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Macroglossia, Pachygyria, Kyphosis, Abnormal cerebral white matter morp... OMIM:606612
Dextrocardia With Unusual Facies And Microphthalmia
Micrognathia, Vertebral fusion, Cleft palate, Microphthalmia, Anophthalmia, Supernumerary ribs, V... OMIM:221950
Waardenburg Syndrome, Type 1
Spina bifida, Supernumerary vertebrae, Heterochromia iridis, Blepharophimosis, White eyebrow, Sup... OMIM:193500
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Median cleft palate, Microcornea, Microphthalmia, Large for gestational age ORPHA:2432
Charcot-Marie-Tooth Disease Type 1B
Scoliosis, Peripheral dysmyelination, Increased CSF protein, Peripheral axonal neuropathy, Decrea... ORPHA:101082
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Hypoplasia of the corpus callosum, Dilation of lateral ventricles, Open mouth OMIM:616816
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Alpha-Mannosidosis
Scoliosis, Open bite, Macroglossia, Narrow palate, Synostosis of joints, Widely spaced teeth, Cra... ORPHA:61
Pontocerebellar Hypoplasia, Type 13
Short philtrum, Hypoplastic hippocampus, Hypoplasia of the corpus callosum, High palate, Epicanth... OMIM:618606
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal dysplasia, Mandibular prognathia, Corneal opacity, Downslanted palpebral fissures, ... OMIM:152950
48,Xxxy Syndrome
Scoliosis, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Open bite, Elbow dis... ORPHA:96263
Koolen-De Vries Syndrome
Scoliosis, Cryptorchidism, Joint hypermobility, Narrow palate, Open mouth, Patent ductus arterios... OMIM:610443
1Q21.1 Microduplication Syndrome
Cryptorchidism, Arthrogryposis multiplex congenita, Cataract, Failure to thrive, Macrocephaly, Hy... ORPHA:250994
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Kbg Syndrome
Cryptorchidism, Oligodontia, Long philtrum, Widely-spaced maxillary central incisors, Thoracic ky... OMIM:148050
Trisomy 1Q
Cryptorchidism, Ambiguous genitalia, Camptodactyly of finger, Narrow mouth, Hydrocephalus, Downsl... ORPHA:261344
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Scoliosis, Cavum septum pellucidum, Contracture of the proximal interphalangeal joint of the 4th ... ORPHA:457279
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Polymicrogyria, Cortical dysplasia, Microphthalmia, Microcephaly OMIM:615771
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Abnormal cerebral white matter morphology, Ventriculomegaly, C... OMIM:613153
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
48,Xyyy Syndrome
Enamel hypoplasia, Dislocated radial head, Long philtrum, Male hypogonadism, Azoospermia, Radioul... ORPHA:99329
Ataxia-Telangiectasia
Abnormality of chromosome stability, Abnormal testis morphology, Lymphopenia, Polycystic ovaries,... ORPHA:100
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Micrognathia, Dilated fourth ventricle, Small for gestational age, Se... ORPHA:3078
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Megalencephaly, Polymicrogyria, Macrocephaly, Hydrocephalus OMIM:615938
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Short philtrum, Abnormality iris morphology, Growth delay, Cataract, Abn... ORPHA:1617
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Gómez-López-Hernández Syndrome
Thin vermilion border, Hydrocephalus, Corneal opacity, Short stature, Telecanthus ORPHA:1532
Emanuel Syndrome
Scoliosis, Cryptorchidism, Congenital hip dislocation, Dental crowding, Submucous cleft lip, Pate... ORPHA:96170
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Mandibular prognathia, Iris coloboma, Hemiverteb... OMIM:109400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly, Chorioretinal dysplasia OMIM:616335
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Decreased mean corpuscular volume, Growth delay, Anemia, Splenomegaly, ... OMIM:615234
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Macrocephaly, Hemimegalencep... OMIM:615937
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Ventriculomegaly, Growt... ORPHA:137902
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormality of the optic disc, Dilated third ventricle, Micrognathia, Small cervical vertebral bo... ORPHA:397715
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Long philtrum, Azoospermia, Congenital ptosis, Hypergonadotropic hypogonadism, Cataract, Delayed ... ORPHA:280679
Microphthalmia With Linear Skin Defects Syndrome
Abnormal dental enamel morphology, Chorioretinal dysplasia, Corneal opacity, Anophthalmia, Clitor... ORPHA:2556
Mosaic Trisomy 9
Scoliosis, Cryptorchidism, Elbow dislocation, Patent ductus arteriosus, Corneal opacity, Hemivert... ORPHA:99776
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Optic atrophy, Micrognathia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sparse eyebrow, Absent eyelashes, Blepharophimosis, Downslanted palpebral fissures, Bilateral cry... ORPHA:544488
Cardiofaciocutaneous Syndrome 4
Scoliosis, Developmental cataract, Hypoplasia of the corpus callosum, Epicanthus, Absent eyebrow,... OMIM:615280
Developmental And Epileptic Encephalopathy 36
Flexion contracture, Cerebral atrophy, Microcephaly, Optic atrophy, Hydrocephalus OMIM:300884
Jacobsen Syndrome
Cryptorchidism, Iris coloboma, Clitoral hypoplasia, Eyelid coloboma, Labial hypoplasia, Short nec... OMIM:147791
Lig4 Syndrome
Cryptorchidism, Thin vermilion border, Biparietal narrowing, Abnormality of chromosome stability,... ORPHA:99812
Kohlschutter-Tonz Syndrome-Like
Scoliosis, Joint hypermobility, Enamel hypoplasia, Carious teeth, Overweight, Yellow-brown discol... OMIM:619229
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Abnormality of the ovary, Joint hyperflexibility, Kyphosis, Cataract, Ptosis, Dec... ORPHA:1875
2P15P16.1 Microdeletion Syndrome
Scoliosis, Narrow mouth, Downslanted palpebral fissures, Decreased testicular size, High palate, ... ORPHA:261349
Hydrolethalus
Cryptorchidism, Hydrocephalus, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Gingival c... ORPHA:2189
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Megalencephaly, Autosomal Dominant
Macrocephaly, Megalencephaly, Hydrocephalus OMIM:155350
H Syndrome
Camptodactyly, Histiocytosis, Delayed puberty, Decreased testicular size, Micropenis, Hydrocephal... ORPHA:168569
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Hydrocephalus, Osteoporosis, Decreased female libido, ... ORPHA:91348
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Bilateral microphthalmos, Microcephaly, Diffuse cerebral atrophy, Dilati... ORPHA:77299
Temple Syndrome
Scoliosis, Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimuation test, P... ORPHA:254516
Zika Virus Disease
Macular atrophy, Congenital intracerebral calcification, Absent foveal reflex, Abnormality of the... ORPHA:448237
Norrie Disease
Scoliosis, Cryptorchidism, Thin vermilion border, Anterior chamber synechiae, Corneal opacity, Ut... ORPHA:649
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Cohen Syndrome
Scoliosis, Cryptorchidism, Open mouth, Iris coloboma, Neutropenia, Failure to thrive in infancy, ... ORPHA:193
Autosomal Dominant Non-Syndromic Intellectual Disability
Scoliosis, Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cere... ORPHA:178469
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Ventriculomegaly, Failure to thrive in infancy, Thrombocytop... ORPHA:858
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus, Microphthalmia, Anophthalmia, Retrognathia, Micrognathia OMIM:615524
Sanjad-Sakati Syndrome
Cryptorchidism, Thin vermilion border, Abnormal dental enamel morphology, Long philtrum, Microgna... ORPHA:2323
Alagille Syndrome
Keratoconus, Cryptorchidism, Short philtrum, Abnormal form of the vertebral bodies, Micrognathia,... ORPHA:52
Rere-Related Neurodevelopmental Syndrome
Scoliosis, Chorioretinal coloboma, Cryptorchidism, Blepharophimosis, Micrognathia, Hypoplasia of ... ORPHA:494344
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Amelogenesis imperfecta, Joint laxity, Abnormal cerebral white matter morphology, G... OMIM:614727
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Wolf-Hirschhorn Syndrome
Scoliosis, Cryptorchidism, Downturned corners of mouth, Iris coloboma, Oral cleft, Ectopia pupill... OMIM:194190
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Dilation of lateral vent... OMIM:618890
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Long philtrum, Azoospermia, Hypergonadotropic hypogonadism, Cataract, Ptosis, Short stature, Decr... OMIM:300845
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Epicanthus, Long eyelashes, Ectopia pupillae, Cataract, Microcornea, Microphthalmia, ... OMIM:615877
Trisomy 9P
Scoliosis, Impacted tooth, Downturned corners of mouth, Dental crowding, Kyphosis, Sacral dimple,... ORPHA:236
Atypical Teratoid Rhabdoid Tumor
Macrocephaly, Hydrocephalus, Limitation of joint mobility, Cerebral calcification ORPHA:99966
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Developmental cataract, Growth delay, Scrotal hypoplasia, Death in infan... OMIM:610756
N Syndrome
Cryptorchidism, Abnormality of chromosome stability, Hypospadias OMIM:310465
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Type II lissencephaly, Ventriculomegaly, Retinal dysplasia, Ocular anteri... ORPHA:324416
Duane Retraction Syndrome
Aniridia, Optic disc hypoplasia, Camptodactyly, Iris coloboma, Spina bifida occulta, Micrognathia... ORPHA:233
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Scoliosis, Buphthalmos, Persistent pupillary membrane, Macroglossia, Pachygyria, Type II lissence... OMIM:613150
Kniest Dysplasia
Lens luxation, Joint stiffness, Delayed epiphyseal ossification, Short neck, Vertebral wedging, F... ORPHA:485
Cog5-Cdg
Genu valgum, Cryptorchidism, Camptodactyly of finger, Cerebral white matter atrophy, High palate,... ORPHA:263487
Gapo Syndrome
Keratoconus, Mandibular prognathia, Micrognathia, Long philtrum, Joint hyperflexibility, Hypogona... ORPHA:2067
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Progressive macrocephaly, Joint laxity, Ventriculomegaly, Megalencephaly... OMIM:602501
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Patent ductus arteriosus, Bicornuate uterus, Downslanted palpebral fissures, Micrognat... OMIM:154400
Fanconi Anemia, Complementation Group L
Abnormality of chromosome stability, Bone marrow hypocellularity, Microphthalmia, Anemia, Cleft p... OMIM:614083
Microphthalmia, Syndromic 2
Scoliosis, Cryptorchidism, Oligodontia, Iris coloboma, Patent ductus arteriosus, Contracture of t... OMIM:300166
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Rhizomelia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Ring Chromosome Y Syndrome
Cryptorchidism, Male hypogonadism, Female infertility, Male infertility, Abnormal spermatogenesis... ORPHA:261529
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Microcephaly, Spinal instability, Short stature OMIM:251250
Meckel Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the tongue, Anencephaly, Pancreatic fibrosis, Anophthalmia,... ORPHA:564
Erythrokeratodermia Variabilis
Abnormal testis morphology, Corneal opacity, Weight loss, Cataract, Short stature, Microcephaly, ... ORPHA:317
Distal Monosomy 6P
Scoliosis, Short philtrum, Downturned corners of mouth, Anterior synechiae of the anterior chambe... ORPHA:96125
Fanconi Anemia, Complementation Group C
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Hypergonadotropic hypogonadi... OMIM:227645
Weaver Syndrome
Scoliosis, Cryptorchidism, Hydrocele testis, Accelerated skeletal maturation, Limited elbow exten... OMIM:277590
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Short philtrum, Occipital cortical atrophy, Hypoplasia of the corpus callosum, Everted lower lip ... ORPHA:411986
Fumarase Deficiency
Agenesis of corpus callosum, Choroid plexus cyst, Polycythemia, Cerebral atrophy, High palate, Po... OMIM:606812
Craniofacial Dyssynostosis
Short philtrum, Craniosynostosis, Open mouth, Downslanted palpebral fissures, Micrognathia, Hypop... ORPHA:1516
Hemiparkinsonism-Hemiatrophy Syndrome
Scoliosis, Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Scoliosis, Cryptorchidism, Micrognathia, Upslanted palpebral fissure, Mandibular prognathia, Corn... ORPHA:496790
Aicardi-Goutieres Syndrome 3
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, CSF lymphocytic ple... OMIM:610329
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Zellweger Syndrome
Cryptorchidism, Epiphyseal stippling, Death in infancy, Corneal opacity, High palate, Clitoral hy... ORPHA:912
X-Linked Intellectual Disability, Najm Type
Scoliosis, Chorioretinal coloboma, Long philtrum, Micrognathia, Cataract, Cerebral cortical atrop... ORPHA:163937
Cerebrooculofacioskeletal Syndrome 3
Arthrogryposis multiplex congenita, Microphthalmia, Cleft palate, Intrauterine growth retardation... OMIM:616570
Polyrrhinia
Oral cleft, Abnormal third ventricle morphology, Dilation of lateral ventricles ORPHA:141091
Apolipoprotein A-I Deficiency
Corneal opacity, Anemia, Splenomegaly ORPHA:425
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cryptorchidism, Type II lissencephaly, Corneal opacity, Megalocornea, Peters anomaly, Agyria, Hyp... OMIM:236670
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Micrognathia, Hypoplasia of the corpus callosum, Mandibular prognathia, Joint contracture of the ... OMIM:618914
Microphthalmia, Syndromic 5
Cryptorchidism, Joint laxity, Ectopic posterior pituitary, Retinal dystrophy, Cataract, Cleft pal... OMIM:610125
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Scoliosis, Thin vermilion border, Narrow mouth, Abnormal form of the vertebral bodies, Corneal op... ORPHA:2370
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Bilateral cleft li... ORPHA:1473
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Cryptorchidism, Accelerated skeletal maturation, Epiphyseal stippling, Mandibular prog... OMIM:101800
Alexander Disease
Scoliosis, Hyperlordosis, Short neck, Agenesis of corpus callosum, Hydrocephalus, Kyphosis, Megal... ORPHA:58
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Long philtrum, Pachygyria, Ventriculomegaly, Wide mouth, Oral cleft, Thin ... OMIM:614583
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormality of dental morphology, Micrognathia, Kyphosis, Microcephaly, Ptosis, Sh... ORPHA:2522
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Platyspondyly, Short philtrum, Downturned corners of mouth, Micrognathia, Rh... ORPHA:93267
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Anophthalmia Plus Syndrome
Spina bifida, Blepharophimosis, Iris coloboma, Bilateral cleft lip and palate, Non-midline cleft ... ORPHA:1104
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebr... ORPHA:572798
Lowry-Maclean Syndrome
Craniosynostosis, Downturned corners of mouth, Corneal opacity, Megalocornea, Downslanted palpebr... ORPHA:2409
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, G... ORPHA:208447
Xp22.3 Microdeletion Syndrome
Sacral dimple, Polycystic ovaries, Opacification of the corneal stroma, Secondary amenorrhea, Sho... ORPHA:1643
Phosphoglycerate Dehydrogenase Deficiency
Developmental cataract, Megaloblastic anemia, Growth delay, Thrombocytopenia, Primary microcephal... OMIM:601815
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Corneal op... OMIM:277950
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Postnatal growth retardation, Pancytopenia, Intrauterine gro... OMIM:600546
Gombo Syndrome
Microcephaly, Delayed puberty, Microphthalmia OMIM:233270
Masa Syndrome
Hyperlordosis, Hydrocephalus, Kyphosis, Ventriculomegaly, Short stature, Macrocephaly, Microcepha... OMIM:303350
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Macroorchidi... ORPHA:8
Developmental And Epileptic Encephalopathy 49
Short philtrum, Open mouth, Ventriculomegaly, Long eyelashes, Thick upper lip vermilion, Cerebral... OMIM:617281
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cryptorchidism, Narrow mouth, Ectropion, Abnormal palate morphology, Growt... ORPHA:2719
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Pachygyria, Chorioretinal dysplasia, Cerebral atrophy, Retin... OMIM:251270
Mucolipidosis Type Iii
Hyperlordosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Corneal opacity,... ORPHA:577
Immunodeficiency 54
Postnatal growth retardation, Intrauterine growth retardation, Adrenocorticotropic hormone excess... OMIM:609981
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Forsythe-Wakeling Syndrome
Osteoporosis, Growth delay, Decreased body weight, Thrombocytopenia, Short stature, Microcephaly,... OMIM:613606
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Developmental cataract, Abnormal cerebral white matter morphology, Flexion contra... OMIM:618815
Achondroplasia
Limited elbow extension, Limited hip extension, Generalized joint laxity, Rhizomelia, Megalenceph... OMIM:100800
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Hypog... ORPHA:141333
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Retinal coloboma, Cataract, Microphthalmia, Hypogonadism, Rod-cone... OMIM:601794
Skin Creases, Congenital Symmetric Circumferential, 2
Cryptorchidism, Carious teeth, Narrow mouth, Blepharophimosis, Micrognathia, Hypoplasia of the co... OMIM:616734
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormality of the vertebral column, Hydrocephalus, Rieger anomaly, Ventriculomegaly, Absent extr... OMIM:109120
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Patent ductus arteriosus, Ne... OMIM:227646
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, Ptosis ORPHA:1067
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Craniosynostosis, Abnormal periventricular white matter morphology, Narrow mouth,... ORPHA:468631
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Obesity, Astigmatism, Dilation of lateral ventricles, Partial agenesis of the c... OMIM:617296
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Scoliosis, Long philtrum, High palate, Epicanthus, Decreased body weight, Postnatal growth retard... OMIM:300749
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Wormian bones, Exudative vitreoretinopathy, Joint laxity, Abnormal vitreous humor m... ORPHA:2788
X-Linked Dominant Chondrodysplasia Punctata
Abnormal vertebral morphology, Rhizomelia, Kyphosis, Epicanthus, Abnormality of the dentition, Ca... ORPHA:35173
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Microphthalmia, Syndromic 8
Cryptorchidism, Blepharophimosis, Mandibular prognathia, Oral cleft, Short palpebral fissure, Mic... OMIM:601349
Warburg Micro Syndrome 4
Cryptorchidism, Developmental cataract, Perisylvian polymicrogyria, Long philtrum, Narrow mouth, ... OMIM:615663
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Short philtrum, Joint laxity, Abnormal cerebral white matter morphology, Narrow palpebral fissure... ORPHA:363686
Glutamine Deficiency, Congenital
Thin vermilion border, Hypoplasia of the corpus callosum, Camptodactyly, Flexion contracture, Sub... OMIM:610015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cataract, Polymicrogyria, Optic nerve hypoplasia, Microphthalmia, Retinal ... OMIM:615181
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Pelvis-Shoulder Dysplasia
Iris coloboma, Acetabular dysplasia, Neonatal short-trunk short stature, Micrognathia, Hydrocepha... ORPHA:2839
Microphthalmia, Syndromic 13
Diastema, Ptosis, Microcornea, Microphthalmia, Short stature, Kyphoscoliosis, Microcephaly OMIM:300915
Takenouchi-Kosaki Syndrome
Scoliosis, Cryptorchidism, Sparse eyebrow, Abnormal periventricular white matter morphology, Down... OMIM:616737
Triploidy
Cryptorchidism, Narrow mouth, Iris coloboma, Micrognathia, Short neck, Hydrocephalus, Macroglossi... ORPHA:3376
16P13.2 Microdeletion Syndrome
Scoliosis, Cryptorchidism, Overweight, Cerebral white matter atrophy, Hypoplasia of the corpus ca... ORPHA:500055
Gm1 Gangliosidosis
Scoliosis, Narrow mouth, Mandibular prognathia, Patent ductus arteriosus, Corneal opacity, Weight... ORPHA:354
Fg Syndrome Type 1
Cryptorchidism, Craniosynostosis, Open mouth, Dental crowding, Downslanted palpebral fissures, Hi... ORPHA:93932
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Mandibular prognathia, Growth delay, Wide mouth, Thick vermilion border, Microc... ORPHA:85290
8Q21.11 Microdeletion Syndrome
Cryptorchidism, Narrow mouth, Downturned corners of mouth, Corneal opacity, Downslanted palpebral... ORPHA:284160
Congenital Amegakaryocytic Thrombocytopenia
Scoliosis, Abnormal form of the vertebral bodies, Thrombocytopenia, Decreased skull ossification,... ORPHA:3319
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Hypoglycemia, Thrombocytopenia, Cataract, Failure to thrive, Microcephaly ORPHA:67048
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus, Short stature, Short neck, Vert... ORPHA:2578
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Pancytopenia, Thrombocytopenia,... OMIM:610333
Micro Syndrome
Scoliosis, Cryptorchidism, Clitoral hypoplasia, Cerebral cortical atrophy, Delayed puberty, Joint... ORPHA:2510
Meckel Syndrome, Type 8
Cleft palate, Microphthalmia, Cleft upper lip, Anophthalmia, Microcephaly, Short neck OMIM:613885
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Holoprosencephaly, Upslanted palpebral fissure, Microphthalmia, Cleft upper lip, ... OMIM:612530
Temtamy Syndrome
Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Thick lower lip vermilion, Joi... ORPHA:1777
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Craniosynostosis, Tarsal synostosis, Arthrogryposis multiplex conge... OMIM:178110
Cornelia De Lange Syndrome 5
Cryptorchidism, Thin vermilion border, Downturned corners of mouth, Postnatal growth retardation,... OMIM:300882
Alexander Disease
Increased CSF protein, Progressive macrocephaly, Hydrocephalus OMIM:203450
Pineocytoma
Increased CSF protein, Abnormal eyelid morphology, Hydrocephalus ORPHA:251912
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Camptodactyly, Increased female libido, Delayed puberty, Secon... ORPHA:432
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Abnormal caudate nucleus morphology, Oligomeno... ORPHA:95613
Witteveen-Kolk Syndrome
Scoliosis, Cryptorchidism, Thin vermilion border, Joint laxity, Narrow mouth, Open mouth, Iris co... OMIM:613406
Mucopolysaccharidosis, Type Vii
Scoliosis, Genu valgum, Thoracolumbar kyphosis, Platyspondyly, Widely spaced teeth, Flexion contr... OMIM:253220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Flexion contracture, Retinal dysplasia, Cataract, Optic ... OMIM:613154
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Scoliosis, Cryptorchidism, Hydrocele testis, Open mouth, Chordee, Dental crowding, Camptodactyly,... ORPHA:261552
Sandestig-Stefanova Syndrome
Highly arched eyebrow, Developmental cataract, Hypoplasia of the corpus callosum, Camptodactyly, ... OMIM:618804
Verheij Syndrome
Scoliosis, Long philtrum, Growth delay, Cerebral atrophy, Hemivertebrae, Vertebral fusion, Thin u... OMIM:615583
Bloom Syndrome
Decreased head circumference, Small for gestational age, Micrognathia, Male infertility, Severe p... ORPHA:125
Aicardi Syndrome
Scoliosis, Prominence of the premaxilla, Optic disc coloboma, Delayed puberty, Supernumerary ribs... ORPHA:50
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Elbow dislocation, Abnormal form of the vertebral b... ORPHA:2916
Postaxial Acrofacial Dysostosis
Cryptorchidism, Supernumerary vertebrae, Congenital hip dislocation, Radioulnar synostosis, Ectro... OMIM:263750
Mucolipidosis Iv
Corneal opacity, Retinal degeneration, Cerebral dysmyelination, Dysplastic corpus callosum, Opaci... OMIM:252650
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Unilateral ptosis, Hypermobility of interphalangeal joints, Thoracic kyph... ORPHA:508498
Fanconi Anemia, Complementation Group A
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Hypergonadotropic hypogonadi... OMIM:227650
Hemochromatosis, Type 2A
Infertility, Azoospermia, Amenorrhea, Splenomegaly, Hypogonadotropic hypogonadism, Arthritis OMIM:602390
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Myhre Syndrome
Cryptorchidism, Narrow mouth, Camptodactyly, Narrow palpebral fissure, Patent ductus arteriosus, ... OMIM:139210
Cerebrooculonasal Syndrome
Long philtrum, Upslanted palpebral fissure, Epicanthus, Solitary median maxillary central incisor... ORPHA:66625
Fried Syndrome
Scoliosis, Short philtrum, Abnormality of the optic nerve, Cerebral calcification, High palate, H... ORPHA:85335
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity, Growth delay, Cleft palate, Limited elbow extensi... OMIM:244600
Cerebrooculonasal Syndrome
Craniosynostosis, Narrow palate, Downturned corners of mouth, Broad philtrum, Hypoplasia of the c... OMIM:605627
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Cerebral atrophy, Microphthalmia, Failure to thrive, Microcephaly, Optic atrophy, A... OMIM:274270
Trisomy 17P
Scoliosis, Narrow mouth, Patent ductus arteriosus, Broad eyebrow, Oral cleft, Downslanted palpebr... ORPHA:261290
Nasopalpebral Lipoma-Coloboma Syndrome
Lacrimal punctal atresia, Sparse eyebrow, Hypoplasia of the maxilla, Abnormal eyelash morphology,... ORPHA:2399
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Ankyloblepharon, Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia With Limb Anomalies
Fused fourth and fifth metacarpals, Blepharophimosis, Deep philtrum, Growth delay, Postnatal grow... OMIM:206920
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Glandular hypospadias, Short philtrum, Abnormal caudate nucleus morphology, Choroid plexus cyst, ... ORPHA:293725
Lateral Meningocele Syndrome
Scoliosis, Cryptorchidism, Joint hypermobility, Wormian bones, Long philtrum, Biconcave vertebral... OMIM:130720
Fanconi Anemia, Complementation Group F
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Microphallus, Patent ductus ... OMIM:603467
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Chronic neutropenia, Death in infancy, Thrombocytopenia, Anemia, Simplified gyral ... OMIM:619302
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Stromme Syndrome
Accessory spleen, Stillbirth, Hydrocephalus, Iris coloboma, Wide mouth, Cataract, Peters anomaly,... OMIM:243605
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus, Radioulnar synostosis, Abnormal form of the vertebral bodies, Microret... ORPHA:1788
Aniridia 1
Aniridia, Glucose intolerance, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, ... OMIM:106210
Mmep Syndrome
Cryptorchidism, Mandibular prognathia, Oral cleft, Microphthalmia, Microcephaly, Median cleft lip ORPHA:3434
Marden-Walker Syndrome
Scoliosis, Cryptorchidism, Narrow mouth, Camptodactyly, Postnatal growth retardation, High palate... OMIM:248700
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus callosum, Abnormal cerebral w... OMIM:615191
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... OMIM:604213
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Death in infancy, Severe short stature, Hemivertebrae, Vertebral fusion, Disproportion... OMIM:277300
Holoprosencephaly 9
Cryptorchidism, Hypoplasia of the premaxilla, Anterior pituitary hypoplasia, Solitary median maxi... OMIM:610829
Otopalatodigital Syndrome Type 2
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Elbow dislocation, Hypoplastic frontal s... ORPHA:90652
3C Syndrome
Scoliosis, Iris coloboma, Death in infancy, Postnatal growth retardation, Hemivertebrae, Oral cle... ORPHA:7
Hec Syndrome
Developmental cataract, Vaginal hydrocele, Abnormal retinal vascular morphology, Abnormal pupil m... ORPHA:2119
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Macrocephaly, Subcortical band heterotopia, Agen... OMIM:600348
Greig Cephalopolysyndactyly Syndrome
Accelerated skeletal maturation, Cryptorchidism, Craniosynostosis, Agenesis of corpus callosum, H... OMIM:175700
Oculofaciocardiodental Syndrome
Scoliosis, Oligodontia, Iris coloboma, Flexion contracture of the 2nd toe, Patent ductus arterios... ORPHA:2712
Lathosterolosis
Downturned corners of mouth, Anisopoikilocytosis, Cerebral calcification, Downslanted palpebral f... ORPHA:46059
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Cryptorchidism, Moderate intrauterine growth retardation, Delayed puberty, Abnormality of the opt... ORPHA:293967
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Scoliosis, Cryptorchidism, Long philtrum, Hydrocephalus, Unilambdoid synostosis, Hypoplasia of th... OMIM:618577
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Posterior fossa cyst at the fourth ventricle, Chorioretinal atrophy, Patent du... OMIM:220220
Combined Oxidative Phosphorylation Deficiency 14
Ventriculomegaly, Cerebral atrophy, Death in infancy, Growth delay, Thrombocytopenia, Anemia, Mic... OMIM:614946
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
D-2-Hydroxyglutaric Aciduria 1
Micrognathia, Subependymal cysts, Macrocephaly, Multifocal cerebral white matter abnormalities, D... OMIM:600721
Fanconi Anemia, Complementation Group E
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Hypergonadotropic hypogonadi... OMIM:600901
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Delayed puberty, Osteoporosis, Aplasia of the ovary, Hypergonadotropic hypogonadi... ORPHA:2232
Macrosomia With Microphthalmia, Lethal
Median cleft palate, Large for gestational age, Microphthalmia OMIM:248110
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Scoliosis, Narrow palate, Kyphosis, Patent ductus arteriosus, Epicanthus, Hemivertebrae, Ectopia ... OMIM:618223
Ring Chromosome 22 Syndrome
Azoospermia, Neurofibromas, Absent septum pellucidum, Growth delay, Epicanthus, Thick vermilion b... ORPHA:1446
Tatton-Brown-Rahman Syndrome
Scoliosis, Blepharophimosis, Narrow palpebral fissure, Encephalomalacia, Optic nerve hypoplasia, ... OMIM:615879
Squalene Synthase Deficiency
Micrognathia, Hypoplasia of the corpus callosum, Bilateral cryptorchidism, Epicanthus, Failure to... OMIM:618156
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Failure of eruption of permanent teeth, Tooth malposition, Iris coloboma, Anophth... ORPHA:2250
Albers-Schönberg Osteopetrosis
Genu valgum, Carious teeth, Hydrocephalus, Recurrent fractures, Bone pain, Generalized osteoscler... ORPHA:53
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Scoliosis, Cryptorchidism, Hydrocele testis, Open mouth, Chordee, Dental crowding, Camptodactyly,... ORPHA:261537
1Q44 Microdeletion Syndrome
Scoliosis, Thin vermilion border, Biparietal narrowing, Agenesis of corpus callosum, Hydrocephalu... ORPHA:238769
Dubowitz Syndrome
Cryptorchidism, Carious teeth, Iris coloboma, Postnatal growth retardation, Megalocornea, High pa... OMIM:223370
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Accelerated skeletal maturation, Long philtrum, Aplasia/Hypoplasia of the optic nerve, Thick lowe... ORPHA:137634
Charge Syndrome
Scoliosis, Cryptorchidism, Iris coloboma, Patent ductus arteriosus, Postnatal growth retardation,... OMIM:214800
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic ner... OMIM:165550
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Corneal opacity, Testicular seminoma, Short stature, Hypogonadism, Acute leukemia... ORPHA:281090
Microphthalmia With Limb Anomalies
Cryptorchidism, Thin vermilion border, Hypoplasia of the premaxilla, Tarsal synostosis, Elbow dis... ORPHA:1106
Oculocerebrocutaneous Syndrome
Cryptorchidism, Congenital hip dislocation, Aplasia/Hypoplasia of the corpus callosum, Ventriculo... ORPHA:1647
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Periodontitis, Abnormality of the dentition, Gingivitis, Hydrocephalus ORPHA:1008
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation, Corneal opacity,... ORPHA:585
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Narrow mouth, Mild short stature, Flexion contracture, Decreased body weight, Dysplastic corpus c... OMIM:614833
Noonan Syndrome 4
Scoliosis, Cryptorchidism, Cubitus valgus, Short neck, Sparse eyebrow, Downslanted palpebral fiss... OMIM:610733
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents, Elevated CSF fumarate, Increased CSF lactate... OMIM:619060
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Abnormality of the septum pellucidum, Craniosynostosis, Thin vermilion border, Ra... ORPHA:171839
Hemochromatosis, Type 1
Osteoporosis, Azoospermia, Glucose intolerance, Amenorrhea, Impotence, Testicular atrophy, Spleno... OMIM:235200
Mucous Membrane Pemphigoid
Gingivitis, Corneal opacity, Oral mucosal blisters ORPHA:46486
Roifman Syndrome
Long philtrum, Biconvex vertebral bodies, Delayed proximal femoral epiphyseal ossification, Downt... ORPHA:353298
Sponastrime Dysplasia
Scoliosis, Congenital aphakia, Hip subluxation, Joint laxity, Hypoplasia of the nasal bone, Mandi... ORPHA:93357
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Sparse eyelashes, Growth delay, Epicanthus, Cerebral cortical atrophy, Kerat... OMIM:234050
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Patent ... OMIM:614576
Monosomy 9Q22.3
Accelerated skeletal maturation, Narrow mouth, Oral cleft, Downslanted palpebral fissures, Short ... ORPHA:77301
Brachydactyly, Type B1
Hypoplastic sacrum, Camptodactyly, Hemivertebrae, Vertebral fusion, Delayed cranial suture closur... OMIM:113000
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Scoliosis, Aniridia, Cryptorchidism, Camptodactyly of finger, Abnormal size of the palpebral fiss... ORPHA:1101
Cousin Syndrome
Dislocated radial head, Disproportionate short stature, Alveolar ridge overgrowth, Ambiguous geni... OMIM:260660
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Hemifacial Microsomia
Vertebral hypoplasia, Agenesis of corpus callosum, Hydrocephalus, Blepharophimosis, Upper eyelid ... OMIM:164210
Pettigrew Syndrome
Scoliosis, Ventriculomegaly, Flexion contracture, Mandibular prognathia, Wide mouth, Thick vermil... OMIM:304340
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microcornea, Microphthalmia OMIM:251505
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Carpenter Syndrome 1
Scoliosis, Cryptorchidism, Lambdoidal craniosynostosis, Camptodactyly, Patent ductus arteriosus, ... OMIM:201000
Trichothiodystrophy 5, Nonphotosensitive
Micropenis, Mandibular prognathia, Wide mouth, Retinal dystrophy, Optic nerve hypoplasia, Short s... OMIM:300953
Hallermann-Streiff Syndrome
Scoliosis, Cryptorchidism, Joint hypermobility, Wormian bones, Thin vermilion border, Narrow pala... OMIM:234100
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Narrow mouth, Hydrocephalus, Micrognathia, Iris coloboma, Oral cleft, Cataract, V... ORPHA:3301
Cockayne Syndrome B
Cryptorchidism, Carious teeth, Peripheral dysmyelination, Hypoplasia of teeth, Mandibular prognat... OMIM:133540
Microphthalmia, Syndromic 6
Cryptorchidism, Lambdoidal craniosynostosis, Cerebral cortical atrophy, Anophthalmia, High palate... OMIM:607932
Martsolf Syndrome 1
Cryptorchidism, Developmental cataract, Short philtrum, Tooth malposition, Joint laxity, High pal... OMIM:212720
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Scoliosis, Thoracolumbar kyphosis, Azoospermia, Hypoplasia of the corpus callosum, Ventriculomega... ORPHA:2072
45,X/46,Xy Mixed Gonadal Dysgenesis
Scoliosis, Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Hig... ORPHA:1772
Myopathy, Tubular Aggregate, 1
Flexion contracture, Abnormal pupil morphology OMIM:160565
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Pachygyria, Type II lissencephaly, Hypoplasia of the cor... OMIM:614643
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Abnormality of thalamus morphology, Azoospermia, Leukoencephalopathy OMIM:613724
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Open mouth, Dental crowding, Ventriculomegaly, Aqueductal stenosis, Shovel-shaped maxillary centr... OMIM:600906
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Azoospermia, Flexion contracture of finger, Hypergonadotropic hypogonadi... OMIM:602782
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Upslanted palpebral fissure, Aqueductal stenosis, Abnormally ossified vertebrae, Cerebral calcifi... ORPHA:3035
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Joint hypermobility, Thin vermilion border, Sparse eyebrow, Downturned corners of mouth, Proporti... ORPHA:500150
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Amegakaryocytic thrombocytopenia ORPHA:71289
Icf Syndrome
Macroglossia, Abnormality of chromosome stability, Abnormality of neutrophils, Lymphopenia, Epica... ORPHA:2268
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Hydrocephalus, Ventriculomegaly, Anencephaly, Retinal dysplasia, Opacifica... OMIM:615287
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Mirage Syndrome
Scoliosis, Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Lymphopenia, Shawl scrot... OMIM:617053
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Bartsocas-Papas Syndrome
Ambiguous genitalia, Narrow mouth, Aplasia/Hypoplasia of the eyebrow, Synostosis of joints, Ankyl... ORPHA:1234
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Joint laxity, Hypoplasia of the corpus callosum, Growth delay, Thin upper lip vermilion, Intraute... ORPHA:488635
Spondylo-Ocular Syndrome
Osteoporosis, Iris hypopigmentation, Platyspondyly, Abnormal eyebrow morphology, Thin vermilion b... ORPHA:85194
Schimke Immunoosseous Dysplasia
Platyspondyly, Thoracic kyphosis, Ovoid vertebral bodies, Lymphopenia, Elevated circulating thyro... OMIM:242900
Smith-Kingsmore Syndrome
Cryptorchidism, Perisylvian polymicrogyria, Long philtrum, Open mouth, Rhizomelia, Wide mouth, Hy... OMIM:616638
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Cryptorchidism, Epicanthus, Decreased body weight, External genital hypoplasia, Postnatal growth ... OMIM:612947
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism ORPHA:908
Pseudo-Torch Syndrome 1
Long philtrum, Pachygyria, Microretrognathia, Ventriculomegaly, High palate, Thrombocytopenia, Ca... OMIM:251290
Familial Male-Limited Precocious Puberty
Accelerated skeletal maturation, Long penis, Oligospermia, Macroorchidism, Male infertility, Prec... ORPHA:3000
Adams-Oliver Syndrome 2
Developmental cataract, Micrognathia, Cerebral atrophy, Narrow palpebral fissure, Polymicrogyria,... OMIM:614219
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Oligodontia, Unilateral narrow palpebral fissure, Dental malocclusion, Persist... OMIM:618727
Lamb-Shaffer Syndrome
Scoliosis, Decreased head circumference, Micrognathia, Thoracic kyphosis, Epicanthus, Thick vermi... ORPHA:530983
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Micrognathia, Extramedullary hematopoiesis, Cerebral atrophy, Growth delay, Osteopetr... OMIM:259720
5Q14.3 Microdeletion Syndrome
Short philtrum, Frontal cortical atrophy, Open mouth, Hypoplasia of the corpus callosum, Upslante... ORPHA:228384
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Postnatal growth retardation, Triangular mouth, Small for gestational age, Cerebr... OMIM:257300
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Familial Congenital Mirror Movements
Hypogonadotropic hypogonadism, Fused cervical vertebrae, Agenesis of corpus callosum, Dysgenesis ... ORPHA:238722
Faciothoracogenital Syndrome
Glandular hypospadias, Long philtrum, Prominent scrotal raphe, Smooth philtrum, Thin upper lip ve... OMIM:227320
Myotonic Dystrophy 2
Oligospermia, Insulin insensitivity, Elevated circulating follicle stimulating hormone level, Hyp... OMIM:602668
Edinburgh Malformation Syndrome
Accelerated skeletal maturation, Thin vermilion border, Brushfield spots, Narrow mouth, Downturne... ORPHA:1895
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Proportionate short stature, Optic disc hypoplasia, Patent ductus arteriosu... ORPHA:79345
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Scoliosis, Cryptorchidism, Craniosynostosis, Tarsal synostosis, Narrow mouth, Camptodactyly, Dela... ORPHA:95699
Dubowitz Syndrome
Scoliosis, Cryptorchidism, Craniosynostosis, Postnatal growth retardation, Spina bifida occulta, ... ORPHA:235
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... ORPHA:2635
Morquio Syndrome C
Platyspondyly, Corneal opacity, Severe short stature OMIM:252300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Scoliosis, Type II lissencephaly, Hydrocephalus, Flexion contracture, Retinal degeneration, Catar... OMIM:615249
Autosomal Recessive Spastic Paraplegia Type 11
Scoliosis, Focal T2 hyperintense basal ganglia lesion, Overweight, Frontal cortical atrophy, Orth... ORPHA:2822
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Thin vermilion border, Carious teeth, Hydrocephalus, Abnormality of the elbow, Ab... ORPHA:2701
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Craniosynostosis, Hydrocephalus, Sandwich appearance of vertebral bodies, Osteopet... OMIM:259700
Alg13-Cdg
Long philtrum, Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Nabais Sa-De Vries Syndrome, Type 1
Highly arched eyebrow, Narrow palpebral fissure, Epicanthus, Long eyelashes, Sacral dimple, Synop... OMIM:618828
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Joint laxity, Genu recurvatum, Narrow palpebral fissure, Bilateral microphthalmos, Cataract, Hip ... OMIM:608763
Kapur-Toriello Syndrome
Scoliosis, Cryptorchidism, Camptodactyly of finger, Pachygyria, Retinal coloboma, Iris coloboma, ... OMIM:244300
Mowat-Wilson Syndrome
Cryptorchidism, Iris coloboma, Patent ductus arteriosus, Broad eyebrow, Ectopia pupillae, Downsla... OMIM:235730