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Gene: Slx4 MGI:106299

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

lacZ Expression

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

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (3 of 443)
aorta 0.0%
blood vessel 0.0%
bone 0.0%
brain 1.13% (5 of 443)
brainstem 0.46% (2 of 437)
brown adipose tissue 0.0%
cartilage tissue 0.23% (1 of 436)
cerebellum 0.7% (3 of 430)
cerebral cortex 0.22% (1 of 451)
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.46% (2 of 436)
hypothalamus 0.23% (1 of 436)
kidney 4.98% (22 of 442)
large intestine 4.92% (21 of 427)
liver 0.0%
lower urinary tract 0.0%
lung 0.45% (2 of 443)
lymph node 0.23% (1 of 426)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.22% (1 of 446)
ovary 0.0%
oviduct 0.0%
pancreas 0.92% (4 of 437)
parathyroid gland 0.23% (1 of 432)
peripheral nervous system 0.23% (1 of 444)
peyer's patch 0.76% (1 of 132)
pituitary gland 0.24% (1 of 416)
prostate gland 1.85% (8 of 433)
skeletal muscle tissue 0.0%
skin 0.0%
small intestine 4.73% (21 of 444)
spinal cord 0.66% (3 of 453)
spleen 0.46% (2 of 434)
stomach 3.87% (17 of 439)
striatum 0.46% (2 of 438)
testis 1.12% (5 of 446)
thymus 0.23% (1 of 440)
thyroid gland 2.51% (11 of 438)
trachea 0.46% (2 of 433)
uterus 0.44% (2 of 459)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

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

View all 204 images

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

View all 9 images

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

View all 7 images

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

View all 6 images

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

Human diseases caused by Slx4 mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fanconi Anemia
High palate, Hydrocephalus, Absent testis, Decreased fertility in males, Cleft palate, Aplasia/Hy... ORPHA:84
Fanconi Anemia, Complementation Group P
Cryptorchidism, Short palpebral fissure, Short stature, Micrognathia, Microcephaly, Pancytopenia,... OMIM:613951

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Hemivertebrae, Cataract, Microphthalmia, Hypogonadotropic hypogonadism, A... OMIM:206900
Cach Syndrome
Optic neuritis, Flexion contracture, Hepatosplenomegaly, Primary amenorrhea, Microcephaly, Gonada... ORPHA:135
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Motor axonal neuropathy, Short stature, Hypogonadotropic hypogonadism, Micrognathia, Ca... ORPHA:48431
Warburg Micro Syndrome 1
Failure to thrive, Kyphoscoliosis, Narrow mouth, External genital hypoplasia, Joint hypermobility... OMIM:600118
48,Xxyy Syndrome
Cleft palate, Hypergonadotropic hypogonadism, Delayed eruption of teeth, Carious teeth, Radioulna... ORPHA:10
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc colob... OMIM:120200
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Malar flattening, Small scrotum, Short stature, Micrognathia, Anophthalmia, ... ORPHA:264200
Gorlin Syndrome
Hydrocephalus, Hypogonadotropic hypogonadism, Hemivertebrae, Vertebral fusion, Scoliosis, Carious... ORPHA:377
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Narrow mouth, Microphthalmia, Short stature, Retrognathia, Upslanted palpebral fissu... ORPHA:2528
Cofs Syndrome
Joint stiffness, Abnormality of retinal pigmentation, Microphthalmia, Everted lower lip vermilion... ORPHA:1466
Pierpont Syndrome
Long upper lip, Malar flattening, Small for gestational age, Everted lower lip vermilion, Thin ve... ORPHA:487825
Walker-Warburg Syndrome
Hydrocephalus, Macrocephaly, Cleft palate, Microcornea, Retinal dystrophy, Optic atrophy, Catarac... ORPHA:899
Trisomy 13
Cleft palate, Abnormality of the dentition, Optic atrophy, Cataract, Microphthalmia, Intrauterine... ORPHA:3378
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Failure to thrive, Dental malocclusion, Narrow palate, Ovarian neoplas... OMIM:617883
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Cleft palate, Sparse eyebrow, Short philtrum, Microcornea, Downslanted palpebral ... ORPHA:464738
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Microcephaly, Ventriculomegaly, Thrombocytopenia, Intrauterine growth retardation ORPHA:1980
49,Xyyyy Syndrome
Abnormality of the testis size, Large carpal bones, Eunuchoid habitus, External genital hypoplasi... ORPHA:99330
Bresek Syndrome
Hydrocephalus, Cleft palate, Hemivertebrae, Optic nerve hypoplasia, Microcephaly, Scoliosis, Neon... ORPHA:85284
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hemivertebrae, Hypospadias, Anophthalmia, ... ORPHA:77298
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Carious teeth, Cataract, Microphthalmia, Flexion contracture, Microgna... OMIM:214150
Malan Overgrowth Syndrome
High palate, Narrow mouth, Macrocephaly, Accelerated skeletal maturation, Scoliosis, Downslanted ... ORPHA:420179
Cockayne Syndrome Type 2
Kyphosis, Widely spaced primary teeth, Anodontia, Hypoplasia of the primary teeth, Intrauterine g... ORPHA:90322
Pierpont Syndrome
Short neck, Microcornea, Microphthalmia, Decreased body weight, Prominent median palatal raphe, S... OMIM:602342
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Mosaic Trisomy 1
Wide mouth, Thoracic scoliosis, Microretrognathia, Macrocephaly, Cleft palate, Micropenis, Campto... ORPHA:1692
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Cockayne Syndrome Type 1
Widely spaced primary teeth, Abnormality of the dentition, Optic atrophy, Uveitis, Cataract, Abno... ORPHA:90321
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Macrocephaly, Craniosynostosis, Downslanted palpebral fissures, Intrauterine growth retardation, ... OMIM:301056
Proteus-Like Syndrome
Hydrocephalus, Macrocephaly, Abnormal pupil morphology, Genu recurvatum, Splenomegaly, Open bite,... ORPHA:2969
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft palate, Orbital cyst, Congenital hip dislocation, Anophthalmia, Eyel... OMIM:164180
Fanconi Anemia, Complementation Group B
Growth delay, Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism, Short neck, Aplastic ane... OMIM:300514
Kbg Syndrome
Delayed skeletal maturation, Thick eyebrow, Long palpebral fissure, Cleft palate, Short stature, ... ORPHA:2332
Combined Oxidative Phosphorylation Defect Type 39
Increased CSF lactate, Decreased nerve conduction velocity, Congenital foot contractures, Ankle c... ORPHA:565624
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Holoprosencephaly
Hydrocephalus, Macrocephaly, Short neck, Optic atrophy, Median cleft lip and palate, Solitary med... ORPHA:2162
Alg2-Cdg
Microcephaly, Downslanted palpebral fissures, Lateral ventricle dilatation, Iris coloboma, Epican... ORPHA:79326
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Decreased body weight, Microphthalmia, Decreased response to gro... OMIM:609053
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
High palate, Kyphoscoliosis, Thoracic scoliosis, Normal pressure hydrocephalus, Macrocephaly, Abn... ORPHA:300570
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Severe short stature, Malar flattening, Abnormal ante... ORPHA:3163
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Abnormality of the dentition, Platyspondyly, Delayed eruption of teeth, Carious teeth,... ORPHA:534
Prader-Willi Syndrome Due To Translocation
High palate, Wide mouth, External genital hypoplasia, Cleft palate, Short neck, Carious teeth, In... ORPHA:177907
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Fused thoracic vertebrae, Holoprosencephaly, Short stature, Microcephaly... ORPHA:1445
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Fanconi Anemia
High palate, Hydrocephalus, Absent testis, Decreased fertility in males, Cleft palate, Aplasia/Hy... ORPHA:84
Baraitser-Winter Syndrome 1
Wide mouth, Short neck, Microphthalmia, Cleft upper lip, Retrognathia, Long palpebral fissure, Lo... OMIM:243310
8P11.2 Deletion Syndrome
High palate, Microcornea, Retinal dystrophy, Hypogonadism, Sacral dimple, Hypoplasia of penis, Sp... ORPHA:251066
Distal Monosomy 10Q
High palate, Facial diplegia, Cleft palate, Craniosynostosis, Downslanted palpebral fissures, Mic... ORPHA:96148
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Kyphosis, High palate, Wide mouth, Biparietal narrowing, Upsla... ORPHA:261250
Aarskog-Scott Syndrome
Cleft palate, Abnormality of the dentition, Megalocornea, Short neck, Delayed eruption of teeth, ... ORPHA:915
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Oral cleft, Iris coloboma, Bilateral microphthalmos, Microphthal... OMIM:611638
Temple Syndrome
High palate, Intrauterine growth retardation, Hydrocephalus, Relative macrocephaly, Cleft palate,... OMIM:616222
Maternal Uniparental Disomy Of Chromosome X
Flexion contracture, Short stature, Thin vermilion border, Microcephaly, Short neck, Scoliosis, C... ORPHA:261519
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, High, narrow palate, Short stature, Hypergonadotropic hypogonadism, Short neck, Cu... ORPHA:2183
Mental Retardation, Buenos Aires Type
High palate, Failure to thrive, Hydrocephalus, Wide mouth, Dental malocclusion, Blue irides, Hypo... OMIM:249630
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
Fanconi Anemia, Complementation Group O
Neonatal death, Cryptorchidism, Chromosome breakage, External genital hypoplasia OMIM:613390
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Fanconi Anemia, Complementation Group G
Microphthalmia, Microcephaly, Neutropenia, Growth delay, Anemia, Thrombocytopenia, Leukemia, Abno... OMIM:614082
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Severe postnatal growth retardation, Micrognathia, Microcephaly, Conge... ORPHA:3078
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Slc35A2-Cdg
Precocious puberty, Short stature, Craniosynostosis, Osteopenia, Microcephaly, Camptodactyly of f... ORPHA:356961
49,Xxxxy Syndrome
Cleft palate, Short neck, Delayed eruption of teeth, Carious teeth, Radioulnar synostosis, Hypogo... ORPHA:96264
Koolen-De Vries Syndrome
Cleft palate, Abnormality of the dentition, Microdontia, Cataract, Vertebral segmentation defect,... ORPHA:96169
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Microphthalmia With Brain And Digit Anomalies
High palate, Microcephaly, Anophthalmia, Microcornea, Retinal dystrophy, Iris coloboma, Cataract,... ORPHA:139471
Congenital Hydrocephalus
Hydrocephalus, Macrocephaly, Optic atrophy, Downslanted palpebral fissures, Iris coloboma, Ventri... ORPHA:2185
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
1Q21.1 Microduplication Syndrome
Failure to thrive, Hydrocephalus, Macrocephaly, Hypospadias, Cataract, Arthrogryposis multiplex c... ORPHA:250994
Cerebrooculonasal Syndrome
High palate, Hydrocephalus, Macrocephaly, Cleft palate, Craniosynostosis, Sparse eyebrow, Solitar... OMIM:605627
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Azoospermia, Oligospermia, Insulin resistance, Obesity OMIM:615703
Proboscis Lateralis
High palate, Macrocephaly, External genital hypoplasia, Abnormal morphology of bony orbit of skul... ORPHA:141099
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Warburg Micro Syndrome 3
Microcornea, Optic atrophy, Cataract, Microphthalmia, Small scrotum, Flexion contracture, Microgn... OMIM:614222
3Q29 Microdeletion Syndrome
High palate, Failure to thrive, Macrocephaly, Everted lower lip vermilion, Hypospadias, Abnormali... ORPHA:65286
Alexander Disease
Hydrocephalus, Death in childhood, Death in adolescence, Death in infancy, Increased CSF protein,... OMIM:203450
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Micrognathia, Short neck, Lateral ventricle dilatation, Primary microcephaly, K... ORPHA:284417
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Galactosialidosis
Abnormal vertebral morphology, Corneal opacity, Abnormality of the vertebral column, Cherry red s... ORPHA:351
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Cleft palate, Micrognathia, Anophthalmia, Microphthalmia, Supernum... OMIM:221950
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Chromosome 2P16.1-P15 Deletion Syndrome
High palate, Downslanted palpebral fissures, Hypogonadism, High, narrow palate, Short palpebral f... OMIM:612513
2Q24 Microdeletion Syndrome
Failure to thrive, Microphthalmia, Cleft palate, Small for gestational age, Short philtrum, Short... ORPHA:1617
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Median cleft palate, Microcornea, Large for gestational age, Microphthalmia ORPHA:2432
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Short stature, Micrognathia, Retinopathy, Microcephaly, Microcornea, Optic atroph... OMIM:616171
Waardenburg Syndrome, Type 1
Myelomeningocele, Hypoplastic iris stroma, Supernumerary ribs, Thick eyebrow, Blue irides, Supern... OMIM:193500
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Microcornea, Delayed eruption of teeth, Downs... OMIM:257850
Congenital Rubella Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Splenomegaly, Short stature, Microcephaly, ... ORPHA:290
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Macrocephaly, Contracture of the proximal interphalangeal joint of the 4th toe, Supe... ORPHA:457279
Alpha-Mannosidosis
Avascular necrosis, Kyphosis, Corneal opacity, Dental malocclusion, Gingival overgrowth, Narrow p... ORPHA:61
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Microcephaly, Male hypogonadism OMIM:241000
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Decreased nerve conduction velocity, Scoliosis, Peripheral axonal neur... ORPHA:101082
Charge Syndrome
Labial hypoplasia, Cleft palate, Hemivertebrae, Delayed eruption of teeth, Optic atrophy, Microph... ORPHA:138
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Trisomy 1Q
Hydrocephalus, Narrow mouth, Microretrognathia, Macrocephaly, Cleft palate, Camptodactyly of fing... ORPHA:261344
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Hydrocephalus, Lumbar hyperlordosis, Microphthalmia, Macroglossia, Opt... ORPHA:370959
Vacterl With Hydrocephalus
Hydrocephalus, Microphthalmia, Aqueductal stenosis, Retrognathia, Hemivertebrae, Micrognathia, An... ORPHA:3412
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma OMIM:616428
48,Xxxy Syndrome
Cleft palate, Short neck, Delayed eruption of teeth, Carious teeth, Radioulnar synostosis, Hypogo... ORPHA:96263
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Subretinal deposits, Retinal dystrophy, Rhizomelic arm shortening, Abnormal optic disc morphology... ORPHA:397715
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Thrombocytopenia OMIM:209970
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Macrocephaly, Absent eyebrow, Sparse eyebrow, Sparse eyelashes, Retro... ORPHA:544488
Poems Syndrome
Sclerosis of skull base, Sclerosis of foot bone, Polycythemia, Papilledema, Increased circulating... ORPHA:2905
Koolen-De Vries Syndrome
High palate, Cleft palate, Cataract, Open mouth, Intrauterine growth retardation, Sacral dimple, ... OMIM:610443
Ataxia-Telangiectasia
Failure to thrive, Type II diabetes mellitus, Lymphopenia, Short stature, Delayed puberty, Diabet... ORPHA:100
48,Xyyy Syndrome
High palate, Dislocated radial head, Irregularly spaced teeth, Short neck, Long philtrum, Radioul... ORPHA:99329
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Gómez-López-Hernández Syndrome
Corneal opacity, Hydrocephalus, Short stature, Thin vermilion border, Telecanthus ORPHA:1532
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Cataract, Cubitus valgus, Decreased testicular size, Hypogonadism, Abnormality of the o... ORPHA:1875
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Unilat... ORPHA:137902
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Micrognathia, Orbital craniosynostosis, Optic atrophy, Dandy-Walker malformation ORPHA:1538
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Microretrognathia, Hypergonadotropic hypogonadism, Thin vermilion bor... OMIM:619737
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Growth delay, Splenomegaly, Poikilocytosis, Hypog... OMIM:615234
Winchester Syndrome
Kyphosis, Gingival overgrowth, Corneal opacity, Osteolysis involving tarsal bones, Carpal osteoly... OMIM:277950
Congenital Disorder Of Glycosylation, Type Iig
High palate, Cleft palate, Osteopenia, Short neck, Downslanted palpebral fissures, Rhizomelia, In... OMIM:611209
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Retinal dystrophy, Ambiguous genitalia, Clitoral hypertrophy, Chorioretinal dyspla... ORPHA:2556
2P15P16.1 Microdeletion Syndrome
High palate, Sparse eyebrow, Optic atrophy, Downslanted palpebral fissures, Long eyelashes, Hypog... ORPHA:261349
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Emanuel Syndrome
High palate, Multiple joint contractures, Hydrocephalus, Cleft palate, Congenital hip dislocation... ORPHA:96170
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
High palate, Hydrocephalus, Optic atrophy, Long eyelashes, Cataract, Tented upper lip vermilion, ... OMIM:619833
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Macrocephaly, Microcephaly, Ventriculomegaly, Abnormal vertebral morphology OMIM:618709
Microphthalmia, Syndromic 12
Bicornuate uterus, Retrognathia, Micrognathia, Anophthalmia, Microphthalmia, Cryptorchidism OMIM:615524
Kniest Dysplasia
Enlarged joints, Macrocephaly, Flexion contracture of finger, Cleft palate, Platyspondyly, Short ... ORPHA:485
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
High palate, Hydrocephalus, Macrocephaly, Short philtrum, Congenital hip dislocation, Retinal dys... OMIM:619512
Hydrolethalus
Hydrocephalus, Cleft palate, Retrognathia, Micrognathia, Gingival cleft, Anencephaly, Arrhinencep... ORPHA:2189
Cog5-Cdg
High palate, Joint contracture of the hand, Micropenis, Retrognathia, Short stature, Hepatospleno... ORPHA:263487
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Macrocephaly, Microretrognathia, Flexion contracture, Microcephaly, Scoliosis, Opt... OMIM:300884
Mosaic Trisomy 9
High palate, Cleft palate, Hemivertebrae, Short neck, Microphthalmia, Intrauterine growth retarda... ORPHA:99776
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Wide mouth, Growth delay, Microcephaly, Lateral ventricle dilatation, Thick ver... ORPHA:85290
Alagille Syndrome
Vertebral segmentation defect, Failure to thrive, Abnormal pupil morphology, Micrognathia, Short ... ORPHA:52
H Syndrome
Hydrocephalus, Osteolysis, Hypogonadism, Delayed skeletal maturation, Cleft upper lip, Microcytic... ORPHA:168569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Macroglossia, Microcephaly, Scoliosis, Hyperlordosis, Ventriculomegaly, Facial palsy, V... OMIM:606612
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormal CSF pyruvate family amino acid concentration, Increased CSF lactate, Flexion contracture... ORPHA:79243
Temple Syndrome
Hydrocephalus, Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormon... ORPHA:254516
Ring Chromosome Y Syndrome
Female infertility, Ambiguous genitalia, female, Streak ovary, Abnormality of the male genitalia,... ORPHA:261529
Basal Cell Nevus Syndrome
Cleft upper lip, Hydrocephalus, Kyphoscoliosis, Macrocephaly, Mandibular prognathia, Cleft palate... OMIM:109400
N Syndrome
Hypospadias, Cryptorchidism, Abnormality of chromosome stability OMIM:310465
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... ORPHA:280679
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Microcephaly, Bilateral microphthalmos ORPHA:77299
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Micrognathia, Broad eyebrow, Scoliosis, Astigmatism, Optic atrophy, Peters anomaly, ... ORPHA:494344
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Microphthalmia, Upslanted palpebral fissure, Myopic astigmatism, Microcephaly, R... OMIM:152950
Jacobsen Syndrome
Hydrocephalus, Labial hypoplasia, Macrocephaly, Short neck, Microcornea, Clitoral hypoplasia, Opt... OMIM:147791
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Microcornea, De... OMIM:300166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Hydrocephalus, Spinal rigidity, Cleft palate, Macroglossia, Buphthalmos, Microce... OMIM:613150
Lig4 Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Leukocytosis, Biparietal narrowing, Thin vermilio... ORPHA:99812
Aicardi Syndrome
Cleft palate, Hemivertebrae, Optic disc coloboma, Optic atrophy, Cataract, Microphthalmia, Block ... OMIM:304050
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum, Macrodontia, Opti... ORPHA:193
Wolf-Hirschhorn Syndrome
Hydrocephalus, Cleft palate, Craniofacial asymmetry, Short philtrum, Radioulnar synostosis, Delay... OMIM:194190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Hydrocephalus, Death in childhood, Retinal detachment, Cataract, Ventriculomegal... OMIM:613153
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Thrombocytopenia, Agenesis of corpus callosum, Rhizomelia OMIM:166990
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Upslanted palpebral fissure, Micrognathia, Optic nerve hypoplasia, Scoliosis, Pe... ORPHA:496790
Distal Monosomy 6P
Vertebral segmentation defect, Corneal opacity, Malar flattening, Abnormal anterior chamber morph... ORPHA:96125
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Sanjad-Sakati Syndrome
Hypoparathyroidism, Spinal canal stenosis, Corneal opacity, Aplasia/Hypoplasia affecting the eye,... ORPHA:2323
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Zika Virus Disease
Intrauterine growth retardation, Miscarriage, Lens subluxation, Absent foveal reflex, Abnormality... ORPHA:448237
Polyrrhinia
Lateral ventricle dilatation, Oral cleft, Abnormal third ventricle morphology ORPHA:141091
Sifrim-Hitz-Weiss Syndrome
Macrocephaly, Short palpebral fissure, Micropenis, Short stature, Hypogonadotropic hypogonadism, ... OMIM:617159
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Bilateral cleft lip and palate, Optic... ORPHA:1473
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Narrow mouth, Short stature, Thin vermilion border, Reduced bone mineral density... ORPHA:2370
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... ORPHA:399805
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia, Chorioretinal dysplasia OMIM:616335
Masa Syndrome
Kyphosis, Hydrocephalus, Macrocephaly, Short stature, Microcephaly, Hyperlordosis, Ventriculomega... OMIM:303350
Congenital Toxoplasmosis
Hydrocephalus, Abnormality of retinal pigmentation, Microcephaly, Ventriculomegaly, Microphthalmi... ORPHA:858
Anophthalmia Plus Syndrome
Vertebral segmentation defect, Cleft palate, Anophthalmia, Bilateral cleft lip and palate, Iris c... ORPHA:1104
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Scoliosis ORPHA:306669
Mucolipidosis Type Iii
Joint stiffness, Corneal opacity, Cleft palate, Short stature, Reduced bone mineral density, Abno... ORPHA:577
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract, Hypogonadism, Obes... OMIM:601794
Acrofacial Dysostosis 1, Nager Type
Wide mouth, Hydrocephalus, Cleft palate, Radioulnar synostosis, Downslanted palpebral fissures, S... OMIM:154400
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... OMIM:300845
Wars2-Related Combined Oxidative Phosphorylation Defect
High palate, Rod-cone dystrophy, Dilated fourth ventricle, Lateral ventricle dilatation, Thin upp... ORPHA:572798
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Folate-dependent fragile site at Xq28 OMIM:300624
Functioning Gonadotropic Adenoma
Hydrocephalus, Impotence, Ovarian cyst, Osteopenia, Central diabetes insipidus, Pituitary gonadot... ORPHA:91348
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Meckel Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Cleft palate, Anencephaly, Microcornea, Optic at... ORPHA:564
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Blue irides, Mild postnatal growth retardation, Accelerated skeletal maturation, D... OMIM:101800
Gapo Syndrome
Sparse eyebrow, Delayed eruption of teeth, Optic atrophy, Keratoconus, Hypogonadism, Mandibular p... ORPHA:2067
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Microphthalmia, Macrocephaly at birth, Oral cleft, Developmental cataract, Ocular ... ORPHA:324416
Duane Retraction Syndrome
Cleft palate, Short neck, Microcornea, Hypoplastic iris stroma, Abnormal pupil morphology, Short ... ORPHA:233
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Macrocephaly, Ventriculomegaly OMIM:615938
Norrie Disease
Optic atrophy, Erectile dysfunction, Cataract, Microphthalmia, Ectopia lentis, Abnormal pupil mor... ORPHA:649
Xp22.3 Microdeletion Syndrome
Aplasia/Hypoplasia affecting the eye, Short stature, Hypogonadotropic hypogonadism, Opacification... ORPHA:1643
Alexander Disease
High palate, Failure to thrive, Hydrocephalus, Kyphosis, Precocious puberty, Aqueductal stenosis,... ORPHA:58
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Exudative vitreoretinopathy, Short stature, Osteopenia, Retinal detachment, Isos... ORPHA:2788
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Macrocephaly, Absent extraocular muscles, Malar flattening, Short stature, Abnorma... OMIM:109120
Trisomy 9P
Kyphosis, Abnormal pupil morphology, Impacted tooth, Microcephaly, Short neck, Scoliosis, Downtur... ORPHA:236
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Delayed... ORPHA:141333
Baraitser-Winter Syndrome 2
Wide mouth, Short stature, Retrognathia, Long palpebral fissure, Short neck, Long philtrum, Highl... OMIM:614583
Fanconi Anemia, Complementation Group C
Chromosomal breakage induced by crosslinking agents, Neutropenia, Microphthalmia, Cryptorchidism,... OMIM:227645
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Short philtrum, Short neck, Platyspondyly, Decreased skull ossification, Downturned... ORPHA:93267
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Cleft palate, Megalocornea, Optic atrophy, Cataract, Hypoplastic male external gen... OMIM:236670
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Erythrokeratodermia Variabilis
Corneal opacity, Short stature, Microcephaly, Cataract, Diabetes mellitus, Weight loss, Abnormal ... ORPHA:317
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis ORPHA:1067
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Macrocephaly, Limitation of joint mobility ORPHA:99966
Cerebrooculofacioskeletal Syndrome 2
Kyphoscoliosis, Small for gestational age, Micropenis, Micrognathia, Death in childhood, Microcep... OMIM:610756
Megalencephaly, Autosomal Dominant
Hydrocephalus, Macrocephaly OMIM:155350
Autosomal Dominant Non-Syndromic Intellectual Disability
Lateral ventricle dilatation, Microcephaly, Scoliosis, Short stature ORPHA:178469
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal spaced incisors, Thick eyebrow, Everted lower lip vermilion, Short philtrum, Anophthalmi... ORPHA:411986
Lowry-Maclean Syndrome
Hydrocephalus, Cleft palate, Craniosynostosis, Osteopenia, Megalocornea, Downslanted palpebral fi... ORPHA:2409
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Macrocephaly, Cryptophthalmos, Ectopia pupillae, Hypospadias, Long philtrum, ... OMIM:615877
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Macrocephaly, Ventriculomegaly OMIM:615937
Microphthalmia, Syndromic 5
Cleft palate, Micropenis, Short stature, Optic nerve hypoplasia, Anophthalmia, Microcornea, Retin... OMIM:610125
Ogden Syndrome
Hydrocele testis, High palate, Sparse eyebrow, Abnormality of the dentition, Short philtrum, Shor... OMIM:300855
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Hypodontia, Cleft palate, Short stature, Hemivertebrae, S... ORPHA:2916
Fanconi Anemia, Complementation Group D2
Annular pancreas, Hydrocephalus, Neutropenia, Microphthalmia, Cryptorchidism, Small for gestation... OMIM:227646
Oculocerebral Hypopigmentation Syndrome, Cross Type
Aplasia/Hypoplasia affecting the eye, Corneal opacity, Choroideremia, Ocular albinism, Cryptorchi... ORPHA:2719
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Chronic neutropenia, Death in infancy, An... OMIM:619302
Martsolf Syndrome 1
High palate, Finger joint hypermobility, Short philtrum, Downslanted palpebral fissures, Cataract... OMIM:212720
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Macrocephaly, Abnormal oral cavity morphology, Short stature, Craniosynostosis, Mi... ORPHA:1516
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short stature, Short neck, Scoliosis, Abnormal form of the vertebral bodies,... ORPHA:3319
Fumarase Deficiency
High palate, Failure to thrive, Relative macrocephaly, Choroid plexus cyst, Polycythemia, Microce... OMIM:606812
Pineocytoma
Hydrocephalus, Increased CSF protein, Abnormal eyelid morphology ORPHA:251912
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
High palate, Wide mouth, Upslanted palpebral fissure, Hypospadias, Short philtrum, Micrognathia, ... ORPHA:363686
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Bicornuate uterus, Short stature, Short neck, Aplasia/hypoplasia o... ORPHA:2578
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Macrocephaly, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Large for g... OMIM:213980
Stromme Syndrome
Wide mouth, Hydrocephalus, Cleft palate, Micrognathia, Optic nerve hypoplasia, Accessory spleen, ... OMIM:243605
Immunodeficiency 54
Failure to thrive, Intrauterine growth retardation, Adrenocorticotropic hormone excess, Chromosom... OMIM:609981
Microcephaly With Cervical Spine Fusion Anomalies
Microcephaly, Vertebral fusion, Spinal instability, Short stature OMIM:251250
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Optic atrophy, Optic disc pallor, Hip subluxation, Pancytopenia, Increased bone mi... OMIM:259720
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Ptosis, Optic nerve hypoplasia, Microcephaly, Scoliosis, Spina bifida occulta, Downslanted palpeb... OMIM:618736
Tatton-Brown-Rahman Syndrome
Macrocephaly, Thick eyebrow, Thin vermilion border, Optic nerve hypoplasia, Scoliosis, Talipes va... OMIM:615879
47,Xyy Syndrome
Hydrocephalus, Congenital stationary night blindness, Macrocephaly, Cryptorchidism, Malar flatten... ORPHA:8
Cerebrooculonasal Syndrome
High palate, U-Shaped upper lip vermilion, Hypoplasia of penis, Sparse eyebrow, Upslanted palpebr... ORPHA:66625
Cornelia De Lange Syndrome 5
High palate, Cleft palate, Short neck, Long eyelashes, Hypogonadism, Retrognathia, Micrognathia, ... OMIM:300882
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Splenomegaly, Hypogonadotropic hypogonadism, Arthritis, Azoospermia OMIM:602390
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal preputium morphology, Choroid plexus cyst, Retrognathia, Short philtrum, Glandular hypos... ORPHA:293725
Meckel Syndrome, Type 8
Cleft upper lip, Cleft palate, Microcephaly, Short neck, Anophthalmia, Microphthalmia, Encephalocele OMIM:613885
Cerebrooculofacioskeletal Syndrome 3
Cleft palate, Micrognathia, Microcephaly, Arthrogryposis multiplex congenita, Microphthalmia, Int... OMIM:616570
Oculofaciocardiodental Syndrome
Cleft palate, Abnormality of the dentition, Microcornea, Delayed eruption of teeth, Radioulnar sy... ORPHA:2712
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microcephaly, Retinal dysplasia, Microphthalmia OMIM:615771
Postaxial Acrofacial Dysostosis
Cleft upper lip, Growth delay, Ectropion, Supernumerary nipple, Cleft palate, Micropenis, Supernu... OMIM:263750
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hydrocele testis, Cleft palate, Short philtrum, Microcornea, Delayed eruption of teeth, Optic atr... ORPHA:261552
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal reticulocyte morphology, Short stature, Hypospadias, Micrognathia, Short neck,... ORPHA:2522
Developmental And Epileptic Encephalopathy 49
Thick upper lip vermilion, Hydrocephalus, Short philtrum, Microcephaly, Optic atrophy, Long eyela... OMIM:617281
Zellweger Syndrome
High palate, Failure to thrive, Corneal opacity, Abnormality of the tongue, Macrocephaly, Short s... ORPHA:912
Lateral Meningocele Syndrome
High palate, Kyphosis, Sclerosis of skull base, Joint hypermobility, Malar flattening, Short stat... OMIM:130720
Keratoconus Posticus Circumscriptus
Cleft upper lip, Cleft palate, Abnormal vertebral segmentation and fusion, Short neck, Limited el... OMIM:244600
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Eunuchoid habitus, Cleft palate, Abnormality of the dentition, Osteopenia, Primary ame... ORPHA:432
Pelvis-Shoulder Dysplasia
Hydrocephalus, Cleft palate, Microcornea, Ambiguous genitalia, Short palpebral fissure, Micrognat... ORPHA:2839
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Downslanted palpebral fissures, Epicanthus, Joint laxity, Ventriculomegaly, Microp... OMIM:602501
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Ankyloblepharon, Microphthalmia ORPHA:85275
Aicardi Syndrome
Cleft upper lip, Butterfly vertebrae, Precocious puberty, Abnormality of retinal pigmentation, Cl... ORPHA:50
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Kyphoscoliosis, Malar flattening, Short stature, Secondary microcephaly, Osteo... OMIM:614727
Bloom Syndrome
Growth delay, Type II diabetes mellitus, Postnatal growth retardation, Chromosome breakage, Malar... OMIM:210900
Marden-Walker Syndrome
High palate, Cleft palate, Short neck, Radioulnar synostosis, Microphthalmia, Intrauterine growth... OMIM:248700
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Severe short stature, Short stature, He... OMIM:277300
Microphthalmia, Syndromic 13
Kyphoscoliosis, Short stature, Microcephaly, Diastema, Microcornea, Microphthalmia, Ptosis OMIM:300915
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short neck, Hypermobility of interphalangeal joints, Cervical hemivertebrae, Abnormal optic disc ... ORPHA:508498
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Macrocephaly, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Gen... OMIM:253220
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Growth delay, Short palpebral fissure, Cleft palate, Retrognathia, ... OMIM:206920
Fg Syndrome Type 1
High palate, Wide mouth, Hydrocephalus, Macrocephaly, Craniosynostosis, Limited elbow extension a... ORPHA:93932
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Microcephaly, Pancytopenia, Postnatal growth retardation, Intrauterine growth retardation, Abnorm... OMIM:600546
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
X-Linked Intellectual Disability, Najm Type
Failure to thrive, Micrognathia, Optic nerve hypoplasia, Microcephaly, Scoliosis, Long philtrum, ... ORPHA:163937
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Micrognathia, Unilambdoid synostosis, Scoliosis, Long philtrum, Ulnar deviation of... OMIM:618577
Microphthalmia, Syndromic 8
Cleft upper lip, Short palpebral fissure, Cleft palate, Microcephaly, Microcornea, Oral cleft, Wi... OMIM:601349
Triploidy
Aplasia/Hypoplasia affecting the eye, Wide mouth, Hydrocephalus, Narrow mouth, Macrocephaly, Hypo... ORPHA:3376
Bloom Syndrome
Cheilitis, Abnormal proportion of CD8-positive T cells, Abscess, Uveitis, Intrauterine growth ret... ORPHA:125
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Macrocephaly, Accelerated skeletal maturation, Joint contracture of the hand, Cran... OMIM:175700
3C Syndrome
Hydrocephalus, Macrocephaly, Cleft palate, Hemivertebrae, Short neck, Optic atrophy, Downslanted ... ORPHA:7
Trisomy 17P
High palate, Wide mouth, Hydrocephalus, Cleft palate, Short neck, Downslanted palpebral fissures,... ORPHA:261290
Hec Syndrome
Abnormal pupil morphology, Abnormal retinal vascular morphology, Communicating hydrocephalus, Dev... ORPHA:2119
Achondroplasia
Limited hip extension, Hydrocephalus, Lumbar hyperlordosis, Neonatal short-limb short stature, Ma... OMIM:100800
Otopalatodigital Syndrome Type 2
Hydrocephalus, Cleft palate, Downslanted palpebral fissures, Cataract, Encephalocele, Elbow dislo... ORPHA:90652
Abcd Syndrome
Polycythemia, Neonatal death, Large for gestational age, White eyebrow, White eyelashes, Abnormal... OMIM:600501
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Chorioretinal coloboma OMIM:300864
Lissencephaly 4
Short stature, Primary microcephaly, Growth delay, Colpocephaly, Agenesis of corpus callosum OMIM:614019
Gombo Syndrome
Microcephaly, Delayed puberty, Microphthalmia OMIM:233270
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Microcephaly, Agenesis of corpus callosum ORPHA:300573
Fanconi Anemia, Complementation Group L
Hydrocephalus, Chromosome breakage, Cleft palate, Micropenis, Hypoplastic sacrum, Micrognathia, U... OMIM:614083
Fanconi Anemia, Complementation Group F
Failure to thrive, Cryptorchidism, Decreased response to growth hormone stimulation test, Short s... OMIM:603467
Holoprosencephaly 9
Hydrocephalus, Cleft palate, Short philtrum, Hypoplasia of the maxilla, Solitary median maxillary... OMIM:610829
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Periodontitis, Abnormality of the dentition, Gingivitis, Abnormal eyelash morphology ORPHA:1008
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Bone pain, Hydrocephalus, Mandibular osteomyelitis, Macrocephaly, ... ORPHA:53
Sandestig-Stefanova Syndrome
High palate, Small for gestational age, Retrognathia, Prominent metopic ridge, Short neck, Sparse... OMIM:618804
Mucolipidosis Iv
Corneal opacity, Dysplastic corpus callosum, Retinal degeneration, Microcephaly, Opacification of... OMIM:252650
Skin Creases, Congenital Symmetric Circumferential, 2
Narrow mouth, Short palpebral fissure, Cleft palate, Short stature, Upslanted palpebral fissure, ... OMIM:616734
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Median cleft palate, Microphthalmia OMIM:248110
White-Sutton Syndrome
High palate, Cleft palate, Short philtrum, Short neck, Downslanted palpebral fissures, Mandibular... OMIM:616364
1Q44 Microdeletion Syndrome
High palate, Hydrocephalus, Short stature, Thin vermilion border, Micrognathia, Microcephaly, Pro... ORPHA:238769
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation, Microcephaly, Growth delay, Short stature ORPHA:208447
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Macrocephaly, Accelerated skeletal maturation, Optic nerve hypoplasia, Unilateral cryptorchidism,... ORPHA:137634
Knobloch Syndrome 1
Lens subluxation, Band keratopathy, Attenuation of retinal blood vessels, Optic disc pallor, Hori... OMIM:267750
Gm1 Gangliosidosis
Platyspondyly, Optic atrophy, Mandibular prognathia, Weight loss, Abnormality of the scrotum, Joi... ORPHA:354
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... OMIM:165550
16P13.2 Microdeletion Syndrome
Failure to thrive, Hydrocephalus, Kyphosis, Relative macrocephaly, Flexion contracture, Micropeni... ORPHA:500055
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microcornea, Microphthalmia OMIM:251505
Myhre Syndrome
Macrocephaly, Cleft palate, Short philtrum, Platyspondyly, Short neck, Birth length less than 3rd... OMIM:139210
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly OMIM:604213
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Fanconi Anemia, Complementation Group A
Neutropenia, Microphthalmia, Cryptorchidism, Small for gestational age, Hypergonadotropic hypogon... OMIM:227650
Forsythe-Wakeling Syndrome
Delayed skeletal maturation, Decreased body weight, Short stature, Microcephaly, Osteoporosis, Gr... OMIM:613606
Mucous Membrane Pemphigoid
Gingivitis, Corneal opacity, Oral mucosal blisters ORPHA:46486
Developmental Delay With Variable Neurologic And Brain Abnormalities
Upslanted palpebral fissure, Micrognathia, Microcephaly, Long palpebral fissure, Microdontia, Ast... OMIM:619694
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Camptodactyly of finger, Megalocornea, Scoliosis, Long philtrum, Anophthalmi... ORPHA:1101
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hydrocele testis, Cleft palate, Short philtrum, Delayed eruption of teeth, Genu valgum, Cleft har... ORPHA:261537
Band Heterotopia
Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:600348
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Cleft palate, Sparse eyebrow, Hemivertebrae, Short philtrum, Optic atrophy, Downslanted palpebral... ORPHA:500150
Noonan Syndrome 4
Delayed skeletal maturation, Wide mouth, Dental malocclusion, Macrocephaly, Blue irides, Sparse e... OMIM:610733
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Cleft palate, Short sta... OMIM:178110
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Pituitary Apoplexy
Adrenocorticotropic hormone deficiency, Impotence, Pituitary adenoma, Elevated circulating growth... ORPHA:95613
8Q21.11 Microdeletion Syndrome
High palate, Corneal opacity, Narrow mouth, Hypoplasia of penis, Abnormality of the dentition, Sh... ORPHA:284160
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Microcephaly, Hypoglycemia, Iris hypopigmentation, Cataract, Thrombocytopenia ORPHA:67048
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Cleft palate, Abnormality of the dentition, Osteopenia, Megalocornea... ORPHA:536471
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Microcephaly, Optic atrophy, Microphthalmia, Growth delay, Agenesis of corpus ... OMIM:274270
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Kyphosis, Narrow palate, Decreased response to growth hormone stimulation tes... OMIM:618223
Hemochromatosis, Type 1
Amenorrhea, Glucose intolerance, Testicular atrophy, Impotence, Splenomegaly, Hypogonadotropic hy... OMIM:235200
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Aqueductal stenosis, Malar flattening, Abnormal form of the vertebral bodies, ... ORPHA:1788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Flexion contracture, Optic atrophy, Cataract, Ventriculomegaly, Retinal dysplasia,... OMIM:613154
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Micropenis, Hemivertebrae, Delayed cranial sut... OMIM:113000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Osteopenia, Primary amenorrh... OMIM:614837
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Flexion contracture OMIM:160565
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Narrow mouth, Abnormally ossified vertebrae, Micrognathia, Microcornea, Oral cleft... ORPHA:3301
Chromosome 6Pter-P24 Deletion Syndrome
High palate, Hydrocephalus, Macrocephaly, Short neck, Downslanted palpebral fissures, Tented uppe... OMIM:612582
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Primary microcephaly, Developmental cataract, Decreased testicular size, Gr... OMIM:601815
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Absent eyebrow, Short stature, Sparse eyel... OMIM:615280
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Takenouchi-Kosaki Syndrome
Wide mouth, Sparse eyebrow, Short philtrum, Optic atrophy, Downslanted palpebral fissures, Eversi... OMIM:616737
Lead Poisoning
Delayed skeletal maturation, Infertility, Miscarriage, Decreased male libido, Reduced sperm motil... ORPHA:330015
Fried Syndrome
High palate, Hydrocephalus, Short philtrum, Scoliosis, Abnormality of the optic nerve ORPHA:85335
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Cataract, Hypoplasia of the maxilla, Proportionate short stature, Epiphyseal s... ORPHA:79345
Sponastrime Dysplasia
Platyspondyly, Biconcave vertebral bodies, Microdontia, Hypoplasia of the nasal bone, Rhizomelia,... ORPHA:93357
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Radioulnar synostosis ORPHA:71289
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
High palate, Decreased body weight, Short stature, Retinal coloboma, Micrognathia, Optic nerve hy... OMIM:300749
Warburg Micro Syndrome 4
Narrow mouth, Flexion contracture, Micropenis, Short stature, Severe postnatal growth retardation... OMIM:615663
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Multiple Sulfatase Deficiency
Joint stiffness, Corneal opacity, Hydrocephalus, Abnormality of retinal pigmentation, Macrocephal... ORPHA:585
Microphthalmia With Limb Anomalies
High palate, Hydrocephalus, Cleft palate, Macrodontia, True anophthalmia, Optic atrophy, Hypoplas... ORPHA:1106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Optic nerve hypoplasia, Retinal detachment, Cataract, Microphthalmia OMIM:615181
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
High palate, Kyphosis, Dilated third ventricle, Short philtrum, Long philtrum, Microcephaly, Broa... OMIM:619244
Icf Syndrome
Macrocephaly, Lymphopenia, Macroglossia, Short stature, Micrognathia, Communicating hydrocephalus... ORPHA:2268
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, Unilateral narrow palpebral fissure, Persistence of primary teeth, Malar fla... OMIM:618727
Mirage Syndrome
Hydrocephalus, Decreased body weight, Lymphopenia, Cryptorchidism, Short stature, Hypergonadotrop... OMIM:617053
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hyperextensibility of the finger joints, Joint laxity, Growth delay, Abnormal lateral ventricle m... ORPHA:488635
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Splenomegaly, Hepatosplenomegaly, Death in childhood, Ventriculomegaly, Pancytopen... OMIM:610333
Ring Chromosome 22 Syndrome
Growth delay, Thick eyebrow, Microcephaly, Neurofibromas, Epicanthus, Protruding tongue, Thick ve... ORPHA:1446
Cartilage-Hair Hypoplasia
Accelerated skeletal maturation, Sparse eyebrow, Abnormally ossified vertebrae, Short neck, Rhizo... ORPHA:175
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Schimke Immunoosseous Dysplasia
Osteopenia, Platyspondyly, Short neck, Microdontia, Disproportionate short-trunk short stature, O... OMIM:242900
Harel-Yoon Syndrome
Corneal opacity, Upslanted palpebral fissure, Micrognathia, Scoliosis, Peripheral axonal neuropat... OMIM:617183
Fanconi Anemia, Complementation Group E
Neutropenia, Microphthalmia, Cryptorchidism, Small for gestational age, Hypergonadotropic hypogon... OMIM:600901
Temtamy Syndrome
Macrocephaly, Micrognathia, Joint hyperflexibility, Genu varum, Telecanthus, Iris coloboma, Micro... ORPHA:1777
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Lumbar hyperlordosis, Narrow palate, Hyperplasia of the maxilla, Scoliosis, ... ORPHA:313892
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Genu recurvatum, Joint laxity, Cataract, Bilateral microphthalmos, Narrow palpebral fissure, Hip ... OMIM:608763
Edinburgh Malformation Syndrome
Aplasia/Hypoplasia affecting the eye, Failure to thrive, Hydrocephalus, Narrow mouth, Joint stiff... ORPHA:1895
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Craniosynostosis, Attenuation of retinal blood vessels, Optic disc p... ORPHA:468631
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Microphthalmia, Short stature, Thin vermilion border, Platyspondyly,... ORPHA:85194
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, High palate, Lumbar hyperlordosis, Macrocephaly, Cryptorchidism,... OMIM:617796
Mmep Syndrome
Microcephaly, Oral cleft, Median cleft lip, Microphthalmia, Mandibular prognathia, Cryptorchidism ORPHA:3434
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Macrocephaly, Microretrognathia, Chorioretinal atrophy, Dilated fourth ventricle, ... OMIM:220220
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Cleft palate, Sparse eyebrow, Short philtrum, Downslanted palpebral fissures, Tented... OMIM:612530
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Osteopenia, Primary amen... ORPHA:2232
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight, Long philtrum ORPHA:324422
Faciothoracogenital Syndrome
Prominent scrotal raphe, Micrognathia, Glandular hypospadias, Long philtrum, Shawl scrotum, Micro... OMIM:227320
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Flexion contracture, Micropenis, Hypospadias, Developmental cataract, Death in i... OMIM:618815
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Cleft palate, Platyspondyly, Short neck, Anisospondyly, Cataract, Ovoid vertebral bo... ORPHA:163649
Frontonasal Dysplasia 1
Median cleft palate, Joint contracture of the hand, Camptodactyly, Hypoplastic frontal sinuses, E... OMIM:136760
Sialidosis Type 2
Kyphosis, Corneal opacity, Flexion contracture, Short stature, Abnormal macular morphology, Splen... ORPHA:87876
Morquio Syndrome C
Corneal opacity, Platyspondyly, Severe short stature OMIM:252300
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Sparse eyelashes, Retrognathia, Microcephaly, Microcornea, Partial agenesis of the ... OMIM:234050
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Short stature, Thin vermilion border, Aplasia/Hypoplasia of the eyebrow, Carious t... ORPHA:2701
Trichothiodystrophy 5, Nonphotosensitive
Wide mouth, Widely spaced primary teeth, Micropenis, Short stature, Optic nerve hypoplasia, Micro... OMIM:300953
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Ectropion, Lymphopenia, Microphthalmia, Short stature, Eclabion, Carious teeth... OMIM:616395
Microphthalmia, Lenz Type
Kyphosis, Ankyloblepharon, Short stature, Hypospadias, Abnormality of the dentition, Microcephaly... ORPHA:568
Micro Syndrome
High palate, Kyphosis, Joint stiffness, Abnormality of retinal pigmentation, Hypoplasia of penis,... ORPHA:2510
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Tooth agenesis, Cervical platyspondyly, Short philtrum, Macrodontia, Scoliosis, Microcephaly, Dow... OMIM:618731
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hypergonadotropic hypogonadism, Abnormality of the cervical spine, Male hypo... OMIM:307500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Microphthalmia, Short stature, Microcephaly, Retinal detachm... OMIM:251270
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae, Congenital ptosis OMIM:192800
Verheij Syndrome
Short stature, Hemivertebrae, Microcephaly, Short neck, Long philtrum, Scoliosis, Thin upper lip ... OMIM:615583
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Khan-Khan-Katsanis Syndrome
Corneal scarring, Failure to thrive, Intrauterine growth retardation, Triangular mouth, Flexion c... OMIM:618460
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Micropenis, Retinal dysplasia, Opacification of the corneal stroma, Anencephaly, O... OMIM:615287
Metatropic Dysplasia
Kyphosis, Hydrocephalus, Joint stiffness, Severe short stature, Cleft palate, Camptodactyly of fi... ORPHA:2635
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Short neck, Downslanted... OMIM:265000
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hydrocephalus, Hypoplasia of the uterus, Cleft palate, Micropenis, Short stature, Hyposp... OMIM:309801
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
2Q31.1 Microdeletion Syndrome
Cleft palate, Short neck, Optic disc coloboma, Downslanted palpebral fissures, Microphthalmia, De... ORPHA:251014
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Increas... ORPHA:209956
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Subcapsular cataract, Aqueductal stenosis, Enamel hypoplasia, Shovel-shaped maxillary central inc... OMIM:600907
1Q21.1 Microdeletion Syndrome
High palate, Failure to thrive, Hydrocephalus, Short stature, Microcephaly, Scoliosis, Long philt... ORPHA:250989
Diencephalic Syndrome
Hydrocephalus, Decreased body weight, Everted lower lip vermilion, Cachexia, Long penis, Optic at... ORPHA:1672
Cockayne Syndrome B
Abnormal peripheral myelination, Microcornea, Carious teeth, Optic atrophy, Microphthalmia, Mandi... OMIM:133540
Apert Syndrome
Vertebral segmentation defect, Hydrocephalus, Narrow palate, Ovarian neoplasm, Cleft palate, Dela... ORPHA:87
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Failure to thrive, Hydrocephalus, Macrocephaly, Osteomye... OMIM:259700
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, External genital hypoplasia, Rod-cone dystrophy, Retinal coloboma, Cataract, Hypo... ORPHA:363741
Marshall-Smith Syndrome
High palate, Hydrocephalus, Accelerated skeletal maturation, Craniosynostosis, Eclabion, Short ph... OMIM:602535
Aniridia 1
Glucose intolerance, Ptosis, Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia... OMIM:106210
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Corneal opacity, Cleft palate, Short stature, Upslanted pal... ORPHA:1794
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Narrow mouth, Decreased body weight, Dysplastic corpus callosum, Flexion contracture, Short statu... OMIM:614833
Otodental Syndrome