Gene Summary

Name:
ataxia telangiectasia and Rad3 related
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Atrtm1b(KOMP)Wtsi HOM   E9.5 0.00
decreased circulating glucose level Atrtm1b(KOMP)Wtsi HET Early adult 4.67×10-06
abnormal spinal cord morphology Atrtm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Atrtm1b(KOMP)Wtsi HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Atrtm1b(KOMP)Wtsi HOM   E12.5 0.00
increased heart weight Atrtm1b(KOMP)Wtsi HET Early adult 3.83×10-09

Download data as:  TSV  XLS

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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
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote Not available
Pancreas  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote Ambiguous
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Sleep Wake

Wake state (bmp file)

11 Images

Adult LacZ

LacZ Images Section

23 Images

Combined SHIRPA and Dysmorphology

Images

2 Images

Eye Morphology

Images Slit Lamp

3 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Electroretinography

Cone waveform (pdf format)

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electroretinography

Rod waveform (pdf format)

4 Images

Human diseases caused by Atr 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 Atr by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... ORPHA:488191
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Spastic Paraplegia 25, Autosomal Recessive
Spinal cord compression OMIM:608220
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea ORPHA:397685
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Wide nasal bridge, Cerebellar hypoplasia, External genital hypoplasia... OMIM:600118
Ethanolaminosis
Cardiomegaly OMIM:227150
Pycnodysostosis
Delayed cranial suture closure, Convex nasal ridge, Micrognathia, Increased bone mineral density,... ORPHA:763
Blepharophimosis-Impaired Intellectual Development Syndrome
Flexion contracture, Plagiocephaly, Wide nasal bridge, Synophrys, Microdontia, Sparse eyelashes, ... OMIM:619293
Mcdonough Syndrome
Underdeveloped nasal alae, Dental malocclusion, Mandibular prognathia, Prominent nose, Kyphosis, ... ORPHA:2471
Ossification Of The Posterior Longitudinal Ligament Of Spine
Diabetes mellitus, Myelopathy, Spinal cord compression OMIM:602475
Cerebrooculofacioskeletal Syndrome 1
Flexion contracture, Delayed eruption of teeth, Micrognathia, Elbow flexion contracture, Camptoda... OMIM:214150
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Fanconi Anemia, Complementation Group S
Underdeveloped nasal alae, Dental malocclusion, Anemia, Thick upper lip vermilion, Narrow palate,... OMIM:617883
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating alanine aminotransferase concentration, Midface retrusion, Joint laxity, Ele... OMIM:614727
Gonadoblastoma
Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Gonadal calcification, Abno... ORPHA:206484
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Brachycephaly, Global brain atrophy, Plagiocephaly, Cachexia, Short neck, Smooth philtrum, Promin... OMIM:616801
Alpha-Mannosidosis
Dental malocclusion, Mandibular prognathia, Narrow palate, Kyphosis, Widely spaced teeth, Type II... ORPHA:61
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Abnormal periventricular white matter morphology, Contractures of the large ... ORPHA:329178
Craniofacial Conodysplasia
Spinal cord compression ORPHA:85168
Microcephaly 16, Primary, Autosomal Recessive
Knee flexion contracture, Decreased body weight, Primary microcephaly, Simplified gyral pattern, ... OMIM:616681
Renpenning Syndrome
Alopecia, Mandibular prognathia, Prominent nose, Decreased testicular size, Thin eyebrow, Cachexi... ORPHA:3242
Transaldolase Deficiency
Synophrys, Hepatosplenomegaly, Short neck, Hepatomegaly, Decreased liver function, Thrombocytopen... OMIM:606003
Lig4 Syndrome
Brachycephaly, Hypothyroidism, Convex nasal ridge, Abnormality of chromosome stability, Wide nasa... ORPHA:99812
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Micrognathia, Microdontia, Bone marrow hypocellularity, Amelogenesis impe... OMIM:617052
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Brachycephaly, Melanocytic nevus, Synophrys, Midface retrusion, Pectus e... ORPHA:1327
3Q13 Microdeletion Syndrome
Long philtrum, Wide nasal bridge, Macrocephaly, Hypoplasia of penis, Short neck, Anteverted nares... ORPHA:1621
Seckel Syndrome 1
Convex nasal ridge, Selective tooth agenesis, Micrognathia, Elbow flexion contracture, Hip disloc... OMIM:210600
Forsythe-Wakeling Syndrome
Decreased body weight, Frontal bossing, Microcephaly, Thrombocytopenia, Prominent nasal bridge, O... OMIM:613606
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Micrognathia, Frontal cortical atrophy, Depressed nasal bridge, Short neck, Narrow mouth, Microce... OMIM:618766
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Dyskeratosis Congenita, Autosomal Dominant 2
Premature graying of hair, Urethral stricture, Palmoplantar hyperkeratosis, White forelock, Nail ... OMIM:613989
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Long philtrum, Wide nasal bridge, Ulnar deviation of the wrist, Mic... OMIM:618577
Hallermann-Streiff Syndrome
Brachycephaly, Selective tooth agenesis, Micrognathia, Tracheomalacia, Pectus excavatum, Everted ... OMIM:234100
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Moynahan Syndrome
Alopecia, Hypogonadism, Cachexia, Microcephaly, Hyperkeratosis, Sparse hair ORPHA:2574
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... ORPHA:2795
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Wt Limb-Blood Syndrome
Retrognathia, Irregular hyperpigmentation, Absent thumb, Short thumb, Micrognathia, Radioulnar sy... OMIM:194350
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly, Cardiomyopathy OMIM:609016
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypothyroidism, Convex nasal ridge, Camptodactyly, Midface retrusion, Prominent occiput, Pectus e... OMIM:613385
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Multiple joint contractures, Selective tooth agenesis, Micrognathia, Neoplasm ... ORPHA:2959
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Convex nasal ridge, Abnormality of upper lip vermillion, Micrognathia, Microdontia, Short neck, C... ORPHA:251028
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Irregular vertebral endplates, Prominent nose, Kyphosis, Thick lower lip vermi... OMIM:234250
Craniosynostosis 3
Left unicoronal synostosis, Dental malocclusion, Sagittal craniosynostosis, Partial agenesis of t... OMIM:615314
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Wide nasal bridge, Macrocephaly, Abnormal vertebral morphology, Pectus excavatum, Fr... ORPHA:166024
Immunodeficiency 54
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Adrenal insufficiency, Fai... OMIM:609981
Macrocephaly, Acquired, With Impaired Intellectual Development
Sparse eyebrow, Long philtrum, Thin corpus callosum, Macrocephaly, Unilateral cryptorchidism, Nar... OMIM:618286
Prieto Syndrome
11 pairs of ribs, Retrognathia, Prominent nose, Patellar dislocation, Patellar subluxation, Cereb... OMIM:309610
Aredyld Syndrome
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Mandibular prognathia, Abnormal nasal morpho... ORPHA:1133
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Synophrys, Cachexia, Biparietal narrowing, Short neck, Abnormal hair pat... ORPHA:85293
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Rubinstein-Taybi Syndrome 2
Short 5th toe, Talon cusp, Dental malocclusion, Retrognathia, Convex nasal ridge, Short first met... OMIM:613684
Xp22.3 Microdeletion Syndrome
Decreased fertility, Hypogonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea ORPHA:1643
Potocki-Lupski Syndrome
Dental malocclusion, Hypothyroidism, Mandibular prognathia, High palate, Wide mouth, Small for ge... OMIM:610883
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Enamel hypoplasia, Patent ductus arteriosus, Cirrhosis, Abnormal cortical gyration,... OMIM:614576
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Retrognathia, Abnormal number of incisors, Prominent nose, Patellar subluxation, Cerebral atrophy... ORPHA:2958
Aicardi-Goutieres Syndrome 4
Convex nasal ridge, Elevated hepatic transaminase, Cerebral calcification, Pancytopenia, Hepatosp... OMIM:610333
Schimke Immunoosseous Dysplasia
Wide nasal bridge, Microdontia, Short neck, Ovoid vertebral bodies, Coarse hair, Thrombocytopenia... OMIM:242900
Maternal Uniparental Disomy Of Chromosome 1
Delayed closure of the anterior fontanelle, Epiphyseal stippling, Type I diabetes mellitus, Pancy... ORPHA:251009
Hajdu-Cheney Syndrome
Abnormal mandible morphology, Patellar dislocation, Wide nasal bridge, Synophrys, Micrognathia, P... ORPHA:955
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Plagiocephaly, Wide nasal bridge, Micrognathia, Elbow flexion contracture, Cachexia, Short neck, ... ORPHA:371364
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Lowry-Maclean Syndrome
Convex nasal ridge, Abnormality of the abdominal organs, Micrognathia, Cleft palate, Widely paten... ORPHA:2409
Cardiofaciocutaneous Syndrome 1
Hypoplasia of the frontal lobes, Cerebral cortical atrophy, Micrognathia, Pectus excavatum, Short... OMIM:115150
Osteopetrosis, Autosomal Recessive 1
Anemia, Osteomyelitis, Calvarial osteosclerosis, Increased bone mineral density, Macrocephaly, Pa... OMIM:259700
Takenouchi-Kosaki Syndrome
Cerebral cortical atrophy, Wide nasal bridge, Synophrys, Camptodactyly, Midface retrusion, Smooth... OMIM:616737
Mulibrey Nanism
Wide nose, Enamel hypoplasia, Dental malocclusion, Hypoplastic frontal sinuses, Wide nasal bridge... OMIM:253250
Christianson Syndrome
Aplasia/Hypoplasia of the cerebellum, Mandibular prognathia, Cerebral cortical atrophy, Aplasia/H... ORPHA:85278
Cranioectodermal Dysplasia
Rhizomelia, Craniosynostosis, Microdontia, Hypodontia, Taurodontia, Dolichocephaly, Prominent occ... ORPHA:1515
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Wide nose, Primary microcephaly, Joint laxity, Hyperinsulinemic hypoglycemia, Diabetes mellitus, ... OMIM:616033
Mccune-Albright Syndrome
Precocious puberty, Abnormal testis morphology, Hyperplasia of the Leydig cells, Bone marrow hypo... ORPHA:562
46,Xx Ovotesticular Disorder Of Sex Development
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
19Q13.11 Microdeletion Syndrome
Retrognathia, Underdeveloped nasal alae, Sparse lateral eyebrow, Wide mouth, Bifid scrotum, Cache... ORPHA:217346
Hajdu-Cheney Syndrome
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Synophrys, Micrognathia, Di... OMIM:102500
Acrodysostosis 1 With Or Without Hormone Resistance
Brachycephaly, Melanocytic nevus, Delayed eruption of teeth, Epiphyseal stippling, Midface retrus... OMIM:101800
Rubinstein-Taybi Syndrome 1
Delayed cranial suture closure, Premature thelarche, Convex nasal ridge, Flexion contracture, Wid... OMIM:180849
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Dental malocclusion, Hypothyroidism, Wide nasal bridge, Bifid scrotum, Thick lower lip vermilion,... ORPHA:85321
Flynn-Aird Syndrome
Alopecia, Increased bone density with cystic changes, Increased bone mineral density, Alopecia of... OMIM:136300
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Leukopenia, Premature graying of hair, Cerebellar hypoplasia, Urethral stricture, Cereb... OMIM:613990
Flynn-Aird Syndrome
Alopecia, Cerebral cortical atrophy, Kyphosis, Type II diabetes mellitus, Cachexia, Cerebral calc... ORPHA:2047
Van Maldergem Syndrome 2
Irregular dentition, Hip subluxation, Short 4th metacarpal, Wide nasal bridge, Micrognathia, Midf... OMIM:615546
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis, Small nail, Sparse scalp hair, Microdontia, Pterygium, Palmoplantar hyperkerato... OMIM:224230
Rothmund-Thomson Syndrome, Type 1
Conical tooth, Hypothyroidism, Cafe-au-lait spot, Absent eyelashes, Premature ovarian insufficien... OMIM:618625
Zimmermann-Laband Syndrome
Micrognathia, Bifid uvula, Generalized hyperpigmentation, Hypoplastic fingernail, Short neck, Hep... ORPHA:3473
Intellectual Disability And Myopathy Syndrome
Incisor macrodontia, Dental malocclusion, Cafe-au-lait spot, Spotty hypopigmentation, Achilles te... OMIM:619719
Ovarian Fibrothecoma
Gonadal calcification, Abnormality of the ovary, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Robinow Syndrome, Autosomal Dominant 2
Cleft soft palate, Micrognathia, Camptodactyly, Midface retrusion, Cleft palate, Gingival overgro... OMIM:616331
Greig Cephalopolysyndactyly Syndrome
Delayed cranial suture closure, Scaphocephaly, Wide nasal bridge, Joint contracture of the hand, ... OMIM:175700
Baraitser-Winter Syndrome 1
Wide nasal bridge, Midface retrusion, Lissencephaly, Short neck, Orofacial cleft, Short nose, Mic... OMIM:243310
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Cerebral cortical atrophy, Abnormality of the cervical spine, Kyphosis, ... ORPHA:48431
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ... OMIM:617872
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Frontal bossing, Joint hyperflexibility, Microcephaly, Short distal phalanx of finger, Osteoporos... ORPHA:2787
Hamamy Syndrome
Neck pterygia, Brachycephaly, Wide nasal bridge, Micrognathia, Pectus excavatum, Everted lower li... OMIM:611174
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Primary microcephaly, Cerebellar hypoplasia, Simplified gyral patter... OMIM:617090
Acrootoocular Syndrome
Short toe, Dental malocclusion, Decreased response to growth hormone stimulation test, Short meta... ORPHA:2980
Maternal Uniparental Disomy Of Chromosome X
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:261519
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormality of skin pigmentation, Convex nasal ridge, Flexion contracture, Premature graying of h... ORPHA:1979
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary am... OMIM:300510
Schwartz-Jampel Syndrome
Wrist flexion contracture, Decreased body weight, Micrognathia, Increased bone mineral density, C... ORPHA:800
Silver-Russell Syndrome
Delayed cranial suture closure, Precocious puberty, Cafe-au-lait spot, Decreased testicular size,... ORPHA:813
Winchester Syndrome
Kyphosis, Arthropathy, Generalized osteoporosis, Hirsutism, Carpal osteolysis, Gingival overgrowt... OMIM:277950
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Rhizomelia, Wide nasal bridge, Micrognathia, Short philtrum, Frontal bossing... ORPHA:93267
Osteopetrosis, Autosomal Recessive 2
Anemia, Mandibular prognathia, Osteomyelitis, Recurrent fractures, Genu valgum, Osteopetrosis, Pa... OMIM:259710
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Hypogonadotropic hypogonadism, Osteopenia, Osteoporosis, Abnormality of the dentition OMIM:615269
Bloom Syndrome
Bronchiectasis, Hepatic steatosis, Chromosome breakage, Prominent nose, Agenesis of maxillary lat... OMIM:210900
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Anemia, Myeloid leukemia, Cirrhosis, Premature graying of hair, Pancytopenia, Usual interstitial ... OMIM:614742
Nestor-Guillermo Progeria Syndrome
Delayed closure of the anterior fontanelle, Convex nasal ridge, Flexion contracture, Micrognathia... OMIM:614008
Trichorhinophalangeal Syndrome, Type I
Ivory epiphyses of the distal phalanges of the hand, Leukonychia, Delayed eruption of teeth, Micr... OMIM:190350
Hemifacial Atrophy, Progressive
Dental malocclusion, Kyphosis, Delayed eruption of teeth, Poliosis, Tongue atrophy, Patchy alopec... OMIM:141300
Corpus Callosum, Agenesis Of
Joint contracture of the hand, Macrocephaly, Camptodactyly, Frontal bossing, Microcephaly, Agenes... OMIM:217990
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Prominent nose, Synophrys, Kyphoscoliosis, Microcephaly OMIM:615541
Van Maldergem Syndrome 1
Irregular dentition, Short 4th metacarpal, Wide nasal bridge, Micrognathia, Camptodactyly, Midfac... OMIM:601390
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Lissencephaly, ... OMIM:610031
Degcags Syndrome
Ambiguous genitalia, Plagiocephaly, Premature graying of hair, Synophrys, Micrognathia, Tracheoma... OMIM:619488
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Tetrasomy 12P
Thick upper lip vermilion, Sparse eyebrow, Long philtrum, Delayed eruption of teeth, Cachexia, Sh... ORPHA:884
Cronkhite-Canada Syndrome
Sparse body hair, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Hypoplastic to... ORPHA:2930
Fragile X Syndrome
Congenital macroorchidism, Mandibular prognathia, Macrocephaly, Joint laxity, Pectus excavatum, M... OMIM:300624
Intermediate Osteopetrosis
Dental malocclusion, Back pain, Anemia, Increased susceptibility to fractures, Osteomyelitis, Rec... ORPHA:210110
Cleidocranial Dysplasia
Brachycephaly, Delayed eruption of teeth, Micrognathia, Midface retrusion, Spina bifida occulta, ... ORPHA:1452
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Dental malocclusion, Irregular vertebral endplates, High palate, Short f... OMIM:612350
Ruijs-Aalfs Syndrome
Decreased body weight, Premature graying of hair, Hypogonadism, Prominent nasal bridge, Micrognat... OMIM:616200
Neu-Laxova Syndrome
Ambiguous genitalia, Flexion contracture, Micrognathia, Bifid uvula, Pulmonary hypoplasia, Promin... ORPHA:2671
6Q25 Microdeletion Syndrome
Camptodactyly of finger, High palate, Long philtrum, Wide nasal bridge, Plagiocephaly, External g... ORPHA:251056
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Brachycephaly, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, C... OMIM:619148
Auriculocondylar Syndrome 2
Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath... OMIM:614669
Bangstad Syndrome
Primary gonadal insufficiency, Retrognathia, Convex nasal ridge, Small for gestational age, Cereb... OMIM:210740
Marshall-Smith Syndrome
Irregular dentition, Decreased body weight, Melanocytic nevus, Recurrent aspiration pneumonia, Sy... OMIM:602535
Robinow Syndrome
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Hypoplastic labia majora... ORPHA:97360
Macs Syndrome
Irregular dentition, Decreased body weight, Wide nasal bridge, Bronchiectasis, Micrognathia, Pect... OMIM:613075
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Bone marrow hypocellularity, Hepatomegaly, Hypochromic anemia, Thrombocyt... ORPHA:75564
Ataxia-Pancytopenia Syndrome
Aplasia/Hypoplasia of the cerebellum, Acute myelomonocytic leukemia, Abnormal macrophage morpholo... ORPHA:2585
Noonan Syndrome 4
High anterior hairline, Sparse eyebrow, Curly hair, Dental malocclusion, Pectus excavatum of infe... OMIM:610733
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Underdeveloped nasal alae, Alopecia, Conical tooth, Brachycephaly, Encephalocele, Agenesis of cer... ORPHA:228390
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Wide nasal bridge, Micrognathia, Taurodontia, Midface retrusion, Short ne... ORPHA:444072
Radio-Tartaglia Syndrome
Precocious puberty, Wide nasal bridge, Synophrys, Micrognathia, Prominent nasal tip, Hirsutism, T... OMIM:619312
Imagawa-Matsumoto Syndrome
Mandibular prognathia, Melanocytic nevus, Agenesis of corpus callosum, Macrocephaly, Camptodactyl... OMIM:618786
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... ORPHA:83451
Shprintzen-Goldberg Craniosynostosis Syndrome
Micrognathia, Camptodactyly, Pectus excavatum, Dislocated radial head, Genu recurvatum, Genu valg... OMIM:182212
Intellectual Disability-Strabismus Syndrome
Hypothyroidism, Plagiocephaly, Synophrys, Micrognathia, Short neck, Prominent nose, Limitation of... ORPHA:363528
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Global brain atrophy, Butterfly vertebrae, Elevated hepatic transaminase, Midface retrusion, Opti... OMIM:301056
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Oculodentodigital Dysplasia, Autosomal Recessive
Brachycephaly, Delayed eruption of teeth, Micrognathia, Large fontanelles, Sparse eyelashes, Abno... OMIM:257850
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
High palate, Broad eyebrow, Thin upper lip vermilion, Broad nasal tip, Smooth philtrum, Hypoplasi... OMIM:612948
Harrod Syndrome
Dental malocclusion, Cerebral cortical atrophy, High palate, Kyphosis, Long nose, Hypopigmented s... ORPHA:2115
Muenke Syndrome
Brachycephaly, Dental malocclusion, Short middle phalanx of toe, High palate, Plagiocephaly, Capi... OMIM:602849
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, Mandibular prognathia, High palate, Wide nasal bridge, Abnormality of dental... ORPHA:3079
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Flat occiput, Microcephal... OMIM:608716
Methylcobalamin Deficiency Type Cble
Hypoplasia of the brainstem, Abnormality of the liver, Pancytopenia, Megaloblastic bone marrow, F... ORPHA:2169
Cornelia De Lange Syndrome 5
Brachycephaly, Synophrys, Micrognathia, Short neck, Hirsutism, Limited elbow extension, Cleft pal... OMIM:300882
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Simplified gyral pattern, Thin corpus callosum, Fusion of the caudat... OMIM:614039
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, High palate, Recurrent fractures, Hyperextensibility of the finger joi... OMIM:613849
Schwartz-Jampel Syndrome, Type 1
Wrist flexion contracture, Micrognathia, Short neck, Flexion contracture of toe, Lumbar hyperlord... OMIM:255800
Fanconi Anemia, Complementation Group D2
Aplasia of the 1st metacarpal, Absent thumb, Prolonged G2 phase of cell cycle, Bone marrow hypoce... OMIM:227646
Non-Distal Trisomy 10Q
Brachycephaly, Convex nasal ridge, High palate, Micrognathia, Pectus excavatum, Short nose, Evert... ORPHA:1695
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Cafe-au-lait spot, Hypogonadism, Delayed eruption of teeth, Small for gestational age, Micrognath... ORPHA:73272
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Brachycephaly, Precocious puberty, Wide nasal bridge, Micrognathia, Short neck, Hirsutism, Short ... OMIM:620073
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, High anterior hairline, Dental malocclusion, Premature ovarian insuffic... OMIM:613680
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Short 5th toe, Short 5th finger, Short 3rd toe, Decreased body weight, Short 4th toe, Frontal bos... OMIM:619060
Isolated Glycerol Kinase Deficiency
Hyperlordosis, Adrenocortical hypoplasia, Scoliosis, Cryptorchidism, Osteoporosis ORPHA:408
Apert Syndrome
Delayed cranial suture closure, Brachycephaly, Humeroradial synostosis, Delayed eruption of teeth... OMIM:101200
Leishmaniasis
Leukopenia, Anemia, Rhinitis, Abnormal oral cavity morphology, Weight loss, Abnormal macrophage m... ORPHA:507
7Q11.23 Microduplication Syndrome
Brachycephaly, Short lingual frenulum, Micrognathia, Tracheomalacia, Pectus excavatum, Short neck... ORPHA:96121
Lissencephaly, X-Linked, 2
Ambiguous genitalia, High palate, Wide anterior fontanel, Wide nasal bridge, Long philtrum, Decre... OMIM:300215
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia, Microcephaly OMIM:600546
Pierpont Syndrome
Brachycephaly, Decreased body weight, Midface retrusion, Everted lower lip vermilion, Short neck,... OMIM:602342
Cantu Syndrome
Patent ductus arteriosus, Thick upper lip vermilion, Long philtrum, Wide nasal bridge, Thick lowe... OMIM:239850
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Retrognathia, High anterior hairline, Dental malocclusion, Patent ductus arteriosus, Thick upper ... ORPHA:363444
Premature Aging Syndrome, Penttinen Type
Delayed cranial suture closure, Convex nasal ridge, Aplasia of the nasal bone, Delayed eruption o... OMIM:601812
Microcephalic Primordial Dwarfism, Montreal Type
Convex nasal ridge, Premature graying of hair, Kyphosis, Vertebral segmentation defect, Micrognat... ORPHA:2617
Fanconi Anemia, Complementation Group C
Anemia, Absent thumb, Cafe-au-lait spot, Flexion contracture, Reticulocytopenia, Leukemia, Small ... OMIM:227645
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Everted upper lip vermilion, B lymphocytopenia, Decreased proportion of CD8-positive, alp... OMIM:619824
Robinow Syndrome, Autosomal Dominant 3
Bifid tongue, Wide nasal bridge, Micrognathia, Camptodactyly, Midface retrusion, Short neck, Clef... OMIM:616894
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Hypoplasia of the brainstem, Prominent nose, Simplified gyral pattern, Absent septum pellucidum, ... OMIM:618492
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Brachycephaly, Pectus excavatum, Lambdoidal craniosynostosis, Ankle clonus, Hypoplasia of the uln... OMIM:615398
Hao-Fountain Syndrome
Delayed cranial suture closure, Large fontanelles, Trigonocephaly, Cryptorchidism, Micropenis, Pr... OMIM:616863
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... ORPHA:199310
Chromosome 16Q22 Deletion Syndrome
High palate, Wide anterior fontanel, Wide nasal bridge, Small for gestational age, Micrognathia, ... OMIM:614541
Neuropathy, Congenital Hypomyelinating, 3
Flexion contracture, High palate, Micrognathia, Cachexia, Dolichocephaly, Limb joint contracture,... OMIM:618186
Maxillonasal Dysplasia, Binder Type
Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae, Short nose, Short colume... OMIM:155050
Fanconi Anemia, Complementation Group I
Hypothyroidism, Absent thumb, Cafe-au-lait spot, Decreased body weight, Short 1st metacarpal, Dec... OMIM:609053
Desmosterolosis
Ambiguous genitalia, Micrognathia, Increased bone mineral density, Bifid uvula, Lissencephaly, Cl... ORPHA:35107
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Micrognathia, Microcephaly, Cleft palate, Arthrogryposis multiplex congeni... OMIM:616570
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failure, Prostate canc... ORPHA:158057
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Abnormality of the philtrum, Short foot, Kyphosis, Hypogonadism, Recurre... ORPHA:3409
Cri-Du-Chat Syndrome
High palate, Premature graying of hair, Short metacarpal, Small for gestational age, Wide nasal b... OMIM:123450
Dyskeratosis Congenita, Autosomal Dominant 1
Premature graying of hair, Bone marrow hypocellularity, Thrombocytopenia, Aplastic anemia, Sparse... OMIM:127550
Fragile X Syndrome
Macroorchidism, Mandibular prognathia, Cerebral cortical atrophy, Macrocephaly, Joint laxity, Fro... ORPHA:908
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Prominent nose, Lumbar scoliosis, Cerebellar hypoplasia, Simplified gyral pattern, Micrognathia, ... OMIM:616171
Gaucher Disease Type 1
Leukopenia, Anemia, Cirrhosis, Abnormal pulmonary interstitial morphology, Kyphosis, Hypersplenis... ORPHA:77259
Desbuquois Dysplasia 1
Advanced ossification of carpal bones, Midface retrusion, Short neck, Smooth philtrum, Advanced t... OMIM:251450
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Ulnar deviation of the wrist, Micrognathia, Arthrogryposis multiplex conge... OMIM:619501
Chondroectodermal Dysplasia With Night Blindness
Abnormality of the knee, Hyperconvex toenail, Micrognathia, Onychauxis, Abnormality of dental mor... ORPHA:319195
Lig4 Syndrome
Hypothyroidism, Prominent nose, Pancytopenia, Failure to thrive, Microcephaly, Cryptorchidism, Th... OMIM:606593
Turnpenny-Fry Syndrome
Brachycephaly, Decreased body weight, Melanocytic nevus, Plagiocephaly, Microdontia, Prominent na... OMIM:618371
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Delayed closure of the anterior fontanelle, Wide nasal bridge, Microg... OMIM:300373
Autoinflammatory-Pancytopenia Syndrome
Hepatic fibrosis, Arthropathy, Type I diabetes mellitus, Pancytopenia, Hepatosplenomegaly, Failur... OMIM:619858
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Patent ductus arteriosus, Ambiguous genitalia, Brachycephaly, High palate, Microgna... OMIM:618142
Dyskeratosis Congenita
Abnormal testis morphology, Premature graying of hair, Neoplasm of the pancreas, Taurodontia, Abn... ORPHA:1775
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... ORPHA:398079
Potocki-Shaffer syndrome
Abnormality of the male genitalia, Delayed cranial suture closure, Parietal foramina DECIPHER:34
Autism Spectrum Disorder Due To Auts2 Deficiency
Retrognathia, Kyphosis, Wide nasal bridge, Small for gestational age, Micrognathia, Prominent nas... ORPHA:352490
Fetal Gaucher Disease
Flexion contracture, High palate, Pancytopenia, Arthrogryposis multiplex congenita, Depressed nas... ORPHA:85212
Mulibrey Nanism
Macrocephaly, Cachexia, Wide nasal bridge, Hepatomegaly ORPHA:2576
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Abnormal trabecular bone morphology, Microdontia, Alopecia totalis, Na... ORPHA:221016
Cockayne Syndrome B
Ivory epiphyses of the phalanges of the hand, Hepatomegaly, Abnormal hair morphology, Sparse hair... OMIM:133540
Spondyloenchondrodysplasia
Dental malocclusion, Hypothyroidism, Abnormal periventricular white matter morphology, Decreased ... ORPHA:1855
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Aplastic anemia, Recurrent respiratory i... OMIM:300635
Fanconi Anemia, Complementation Group E
Anemia, Absent thumb, Cafe-au-lait spot, Reticulocytopenia, Leukemia, Small for gestational age, ... OMIM:600901
Osteopetrosis, Autosomal Recessive 5
Hip subluxation, Micrognathia, Increased bone mineral density, Hepatosplenomegaly, Hepatomegaly, ... OMIM:259720
Craniosynostosis 6
Delayed cranial suture closure, Brachycephaly, Parietal foramina, Plagiocephaly, Turricephaly, La... OMIM:616602
Zimmermann-Laband Syndrome 3
Flexion contracture, Wide nasal bridge, Synophrys, Bifid uvula, Thick eyebrow, Gingival overgrowt... OMIM:618658
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Wide nasal bridge, Primary microcephaly, 4-layered lissencephaly, Dolichocephaly, Prom... ORPHA:89844
Lessel-Kreienkamp Syndrome
Patent ductus arteriosus, Dental malocclusion, Scaphocephaly, Plagiocephaly, Wide nasal bridge, F... OMIM:619149
Fanconi Anemia, Complementation Group A
Anemia, Abnormality of skin pigmentation, Cafe-au-lait spot, Absent thumb, Reticulocytopenia, Leu... OMIM:227650
Aggressive Systemic Mastocytosis
Anemia, Decreased liver function, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, P... ORPHA:98850
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Camptodactyly, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Sparse body... ORPHA:432
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Delayed cranial suture closure, Mandibular aplasia, Depressed nasal ridge, Microgna... ORPHA:1832
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, L... ORPHA:2232
Marden-Walker Syndrome
Micrognathia, Camptodactyly, Pulmonary hypoplasia, Short neck, Cleft palate, Hypoplasia of the br... OMIM:248700
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Alpha-Mannosidosis, Infantile Form
Brachycephaly, Cerebral cortical atrophy, Cortical thickening of long bone diaphyses, Hepatosplen... ORPHA:309282
Emanuel Syndrome
Multiple joint contractures, Delayed eruption of teeth, Micrognathia, Bifid uvula, Cleft palate, ... ORPHA:96170
Pierpont Syndrome
Brachycephaly, High anterior hairline, Short toe, Abnormal cortical gyration, Primary microcephal... ORPHA:487825
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Kyphosis, Wide nasal bridge, Small for gestational age, Micrognathia, Prominent na... OMIM:615834
Mu-Heavy Chain Disease
Anemia, Weight loss, Abnormal B cell count, Osteoporosis, Lymphadenopathy, Osteolysis, Hepatomega... ORPHA:100024
Neonatal Lupus Erythematosus
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Macrocephaly, E... ORPHA:398124
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Leukocytosis, Spleno... OMIM:618963
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Abnormal trabecular bone morphology, Selective tooth agenesis, Microdo... ORPHA:2909
Amegakaryocytic Thrombocytopenia, Congenital
Amegakaryocytic thrombocytopenia, Pancytopenia, Megakaryocytopenia, Thrombocytopenia, Cerebellar ... OMIM:604498
Bohring-Opitz Syndrome
Flexion contracture, Wide nasal bridge, Micrognathia, Camptodactyly, Supernumerary nipple, Disloc... OMIM:605039
Au-Kline Syndrome
Bifid tongue, Plagiocephaly, Bifid uvula, Supernumerary nipple, Pectus excavatum, Cleft palate, L... OMIM:616580
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Dental malocclusion, Tiger tail banding, High, narrow palate, Joint laxity, Spars... OMIM:619692
Larsen-Like Syndrome
Brachycephaly, Dental malocclusion, Joint dislocation, Wide anterior fontanel, Absent nasal bridg... OMIM:608545
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Central hypothyroidism, Wide nasal bridge, Contracture of the proximal interphalangeal joint of t... OMIM:300998
Frank-Ter Haar Syndrome
Delayed cranial suture closure, Brachycephaly, Micrognathia, Camptodactyly, Pectus excavatum, Sho... OMIM:249420
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Amenorrhea, Hypopla... ORPHA:3130
Ataxia-Telangiectasia
Abnormality of chromosome stability, Premature graying of hair, Abnormal testis morphology, Aplas... ORPHA:100
Lissencephaly 4
Wide nasal bridge, Cerebellar hypoplasia, Simplified gyral pattern, Primary microcephaly, Lissenc... OMIM:614019
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar hemisphere hypoplasia, Reduced cerebral white matter volume, Primary microcephaly, Sma... OMIM:615095
Mitochondrial Neurogastrointestinal Encephalomyopathy
Leukoencephalopathy, Anemia, Cirrhosis, Weight loss, Cachexia, Elevated hepatic transaminase, Abn... ORPHA:298
Momo Syndrome
Short sternum, Dental malocclusion, Thick upper lip vermilion, Brachycephaly, Abnormal bone ossif... ORPHA:2563
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Toenail dysplasia, Short toe, Short 5th metacarpal, High palate, Pierre-Robin s... OMIM:617877
Hemochromatosis, Type 1
Alopecia, Cirrhosis, Impotence, Arthropathy, Azoospermia, Hepatocellular carcinoma, Elevated hepa... OMIM:235200
Cockayne Syndrome A
Ivory epiphyses of the phalanges of the hand, Hepatomegaly, Sparse hair, Splenomegaly, Prominent ... OMIM:216400
Three M Syndrome 2
Hyperlordosis, Dental malocclusion, Short 5th finger, High palate, Long philtrum, Delayed eruptio... OMIM:612921
Primary Myelofibrosis
Anemia, Abnormal megakaryocyte morphology, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocyt... ORPHA:824
Craniofrontonasal Dysplasia
Camptodactyly of finger, Brachycephaly, Plagiocephaly, Wide nasal bridge, Pectus excavatum, Abnor... ORPHA:1520
Pseudohypoparathyroidism, Type Ia
Short toe, Enamel hypoplasia, Hypothyroidism, Hypogonadism, Delayed eruption of teeth, Short meta... OMIM:103580
19P13.3 Microduplication Syndrome
Underdeveloped nasal alae, Hip subluxation, Precocious puberty, Prominent nose, Micrognathia, Sho... ORPHA:447980
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Flexion contracture, Wide nasal bridge, Synophrys, Camptodactyly, Midface retrusion, Smooth philt... ORPHA:487796
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Recurrent respiratory infections, Lymphocytosis, Pancytopenia, Au... OMIM:614470
Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Wide nasal bridge, Iris h... ORPHA:398073
Fanconi Anemia, Complementation Group F
Sacral dimple, Leukopenia, Anemia, Absent thumb, Cafe-au-lait spot, Decreased response to growth ... OMIM:603467
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, High palate, Plagiocephaly, Abnormal globus pallidus morphology, Pectus excavatum,... OMIM:618603
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... OMIM:265000
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, Abnormality of the philtrum, Camptodactyly of finger, High palate, Mids... ORPHA:2863
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Micrognathia, Large fontanelles, Short palm, Short nose, Cryptorchidism, Malar fla... ORPHA:171839
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Delayed eruption of teeth, Micrognathia, Microdontia, Sparse eyelashes... OMIM:268400
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Delayed closure of the anterior fontanelle, Lateral ventricle dilatation, Agenesis... OMIM:618736
Cofs Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Hypogon... ORPHA:1466
Prader-Willi Syndrome
Precocious puberty, Adrenal insufficiency, Iris hypopigmentation, Primary amenorrhea, Short palm,... OMIM:176270
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... OMIM:612310
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Cerebral cortical atrophy, Hypospadias, Abnormal hair pattern, Scoliosis, Microcephaly, Generaliz... ORPHA:2508
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Brachycephaly, Abnormality of cranial sutures, Micrognathia, Increased bone mineral density, Shor... ORPHA:163649
4Q21 Microdeletion Syndrome
Short foot, Kyphosis, Small hand, Cerebellar hypoplasia, Synophrys, Long eyelashes, Short philtru... ORPHA:238750
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating alanine aminotransferase concentration, Convex nasal ridge, Kyphosis, Microg... OMIM:615381
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Ankle clonus, Pancytopenia, Abnormal cerebral white matter... OMIM:159550
Lissencephaly 3
Hypoplasia of the brainstem, Agyria, Cerebellar vermis hypoplasia, Lissencephaly, Microcephaly, P... OMIM:611603
Diencephalic Syndrome
Decreased body weight, Cachexia, Long penis, Everted lower lip vermilion, Abnormality of the hypo... ORPHA:1672
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Iris hypopigmentation, De... ORPHA:98754
Prader-Willi Syndrome
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Hypoplastic labia majora,... ORPHA:739
Osteopetrosis With Renal Tubular Acidosis
Brachycephaly, Prominence of the zygomatic bone, Plagiocephaly, Micrognathia, Secondary hyperpara... ORPHA:2785
Proteus Syndrome
Melanocytic nevus, Cachexia, Hip dislocation, Abnormality of the wrist, Long penis, Generalized h... ORPHA:744
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Flexion contracture, Plagiocephaly, Cerebral cortical atrophy, Micrognathia, Midface retrusion, E... OMIM:619720
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Kyphosis, Albinism, Hypopigmentation of hair, Platyspondyly, Osteop... ORPHA:2786
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Cafe-au-lait spot, Failure to thrive, Microcephaly, Bone marrow hypocellu... OMIM:605724
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hypothyroidism, Cirrhosis, Hepatitis, Neutropenia in presence of anti-neutropil antibodies, Hyper... ORPHA:228426
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Ovarian Dysgenesis 3
Aplasia of the ovary, Female infertility, Elevated circulating luteinizing hormone level, Primary... OMIM:614324
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Short toe, Thickened calvaria, Kyphosis, Shortening of all di... OMIM:301900
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Dental malocclusion, Mandibular prognathia, High palate, Relative macrocephaly, Anteverted nares OMIM:618292
Rothmund-Thomson Syndrome Type 1
Hypothyroidism, Delayed eruption of teeth, Abnormal trabecular bone morphology, Microdontia, Alop... ORPHA:221008
Chromosome 3Pter-P25 Deletion Syndrome
Brachycephaly, Wide nasal bridge, Synophrys, Micrognathia, Prominent metopic ridge, Sacral dimple... OMIM:613792
Werner Syndrome
Convex nasal ridge, Abnormal testis morphology, Premature graying of hair, Increased bone mineral... ORPHA:902
Propionic Acidemia
Anemia, Pancytopenia, Failure to thrive, Osteoporosis, Hepatomegaly, Cerebral atrophy, Thrombocyt... OMIM:606054
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... ORPHA:79301
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Iris hypopigmentation, De... ORPHA:177901
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis, Cachexia ORPHA:139436
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Mandibular prognathia, Recurrent aspiration pneumonia, Cerebellar hypoplasia, Cortical dysplasia,... OMIM:619971
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Recurrent respiratory infections, Fulminant hepatitis, Lymphocytosis, Recurrent ... OMIM:308240
Gaucher Disease, Type Iii
Decreased body weight, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:231000
Congenital Muscular Dystrophy Due To Lmna Mutation
Hyperlordosis, Flexion contracture, Spinal rigidity, Cachexia, Limitation of joint mobility, Join... ORPHA:157973
Premature Ovarian Failure 10
Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplasia of the ovary,... OMIM:612885
Chromosome 5P13 Duplication Syndrome
Brachycephaly, High palate, Turricephaly, Wide nasal bridge, Small for gestational age, Craniosyn... OMIM:613174
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Brachycephaly, Lateral ventricle dilatation, Broad eyebrow, Hirsutism, Prominent nose, Microcepha... OMIM:619244
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly, Hyperlordosis, Cerebral cortical atrophy, High palate, Furrowed tongue, Micrognath... ORPHA:1387
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Iris hypopigmentation, De... ORPHA:98793
Ck Syndrome
Retrognathia, Hyperlordosis, High palate, Kyphosis, Micrognathia, Abnormal cortical bone morpholo... OMIM:300831
Usmani-Riazuddin Syndrome, Autosomal Recessive
High palate, Lumbar scoliosis, Joint laxity, Pectus excavatum, Agenesis of corpus callosum OMIM:619548
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Iris hypopigmentation, De... ORPHA:177904
Multicentric Osteolysis, Nodulosis, And Arthropathy
Brachycephaly, Thin bony cortex, Wrist flexion contracture, Delayed closure of the anterior fonta... OMIM:259600
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Absent thumb, Abnormality of chromosome stability, Hypogonadism, Bilate... OMIM:300514
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Premature graying of hair, Bone marrow hypocellularity, Sparse eyelashes,... OMIM:305000
Transcobalamin Deficiency
Abnormality of chromosome stability, Pancytopenia, Lymphopenia, Megaloblastic bone marrow, Thromb... ORPHA:859
Lissencephaly, X-Linked, 1
Agyria, Lissencephaly, Pachygyria, Micropenis, Agenesis of corpus callosum OMIM:300067
Phelan-Mcdermid Syndrome
Sacral dimple, Toenail dysplasia, Hypoplastic toenails, Dental malocclusion, Patent ductus arteri... OMIM:606232
Alexander Disease Type I
Cachexia, Rosenthal fibers, Abnormal cerebral white matter morphology, Failure to thrive, Focal T... ORPHA:363717
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Macrovesicular hepatic steatosis, Failure to thrive, Osteoporosis, Scoliosis, Hepatomeg... OMIM:618234
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Azoospermia, Male hypo... OMIM:228300
Cleft Palate, Isolated
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Martin-Probst Syndrome
Dental malocclusion, Hypothyroidism, Wide nasal bridge, Bifid scrotum, Thick lower lip vermilion,... OMIM:300519
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Patent ductus arteriosus, Delayed closure of the anterior fontanelle, Kyphosis, Delayed eruption ... OMIM:619797
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Hepatocellular carcinoma, Cholangiocarcinoma, Chronic hepatic failure, Hepatomega... ORPHA:465508
Fanconi Anemia, Complementation Group P
Anemia, Absent thumb, Cafe-au-lait spot, Hypoplasia of the radius, Micrognathia, Bulbous nose, Pa... OMIM:613951
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age, Increased serum serotonin, Depressed nasal bridge, Hirsutism... ORPHA:85288
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Recurrent aspiration pneumonia, Elevated hepatic transaminase, Hepatosplenomeg... ORPHA:79124
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypothyroidism, Bifid tongue, Wide nasal bridge, Exaggerated median tongue furrow, Bifid uvula, S... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypothyroidism, Bifid tongue, Wide nasal bridge, Exaggerated median tongue furrow, Bifid uvula, S... ORPHA:352665
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Delayed eruption of teeth, Impaired neutrophil chemotaxis, Elevated hepat... ORPHA:811
Riboflavin Transporter Deficiency
Diabetes insipidus, Cerebral cortical atrophy, Hypogonadism, Iris hypopigmentation, Cachexia ORPHA:97229
Dominant Beta-Thalassemia
Hypothyroidism, Adrenal insufficiency, Malar prominence, Hepatocellular carcinoma, Hepatosplenome... ORPHA:231226
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Brachycephaly, Flexion contracture, Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Short ... OMIM:616897
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Hepatic failure, Delayed closure of the anterior fontanelle, Decreased ... OMIM:614886
Coffin-Lowry Syndrome
Delayed closure of the anterior fontanelle, Decreased body weight, Lumbar kyphosis, Pectus excava... OMIM:303600
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:619834
Cutis Laxa, Autosomal Recessive, Type Iib
High palate, Narrow nasal ridge, Long philtrum, Agenesis of corpus callosum, Midface retrusion, P... OMIM:612940
Odontochondrodysplasia 1
Biconvex vertebral bodies, Dentinogenesis imperfecta, Genu varum, Long philtrum, Short metacarpal... OMIM:184260
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Flexion contracture, Small pituitary gland, Primary a... ORPHA:398069
Fryns-Smeets-Thiry Syndrome
Patellar aplasia, Wide mouth, Thick lower lip vermilion, Micrognathia, Cachexia, Short philtrum, ... ORPHA:2058
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Pancytopenia, Diffuse alveolar hemorrhage, Failure to ... OMIM:616050
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Desmosterolosis
Ambiguous genitalia, female, Micrognathia, Alveolar ridge overgrowth, Cleft palate, Arthrogryposi... OMIM:602398
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Wrist swelling, Wide nasal bridge, Micrognathia, Cachexia, Abnormality o... ORPHA:2774
Sotos Syndrome
High anterior hairline, Genu valgum, Small nail, Narrow palate, Dolichocephaly, Frontal bossing, ... OMIM:117550
Immunodeficiency, Common Variable, 8, With Autoimmunity
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Vitiligo, Throm... OMIM:614700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Portal fibr... ORPHA:369
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea, Osteopo... OMIM:300604
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Cirrhosis, Myeloid leukemia, Premature graying of hair, Pancytopenia, Bone marrow hypocellularity... OMIM:614743
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Anemia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral... OMIM:619302
Spastic Paraplegia 18, Autosomal Recessive
Hypoplasia of the corpus callosum, High palate, Scoliosis, Kyphosis OMIM:611225
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Brachycephaly, Joint contracture of the hand, Thick lower lip vermilion... OMIM:179613
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Brachycephaly, Thin bony cortex, Synophrys, Bifid uvula, Pectus excavatum, Short neck, Smooth phi... OMIM:309583
Short Syndrome
Underdeveloped nasal alae, Dental malocclusion, Wide nasal bridge, Delayed eruption of teeth, Sma... OMIM:269880
Ring Chromosome 10 Syndrome
Long philtrum, Wide nasal bridge, Micrognathia, Cachexia, Pectus excavatum, Frontal bossing, Shor... ORPHA:1438
Even-Plus Syndrome
Vertebral clefting, Brachycephaly, High palate, Depressed nasal ridge, Synophrys, Hypodontia, Age... OMIM:616854
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Rhizomelia, Agenesis of corpus callosum OMIM:166990
Sialidosis Type 2
Flexion contracture, Kyphosis, Osteoporosis, Hepatomegaly, Splenomegaly, Umbilical hernia, Abnorm... ORPHA:87876
Intellectual Developmental Disorder, Autosomal Dominant 65
Thick upper lip vermilion, Short foot, Wide nasal bridge, Long philtrum, Turricephaly, Synophrys,... OMIM:619320
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Underdeveloped nasal alae, Dental malocclusion, Widely spaced teeth, Bone spicule pigmentation of... OMIM:616108
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Decreased body weight, High palate, Joint contracture of the hand, Frontal upsweep... OMIM:600325
Griscelli Syndrome Type 2
Neutropenia, Premature graying of hair, Iris hypopigmentation, Jaundice, Pancytopenia, Hypopigmen... ORPHA:79477
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Wide nasal bridge, Delayed eruption of teeth,... OMIM:305620
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Cerebral calcification, Pancytopenia, Testicular atrophy, Reticulated skin pigmentatio... OMIM:613987
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Decreased body weight, Long philtrum, Recurrent fractures, Increased b... OMIM:614856
Clark-Baraitser syndrome
Macroorchidism, Genu valgum, Kyphosis, Exaggerated median tongue furrow, Prominent median palatal... OMIM:300602
Osteogenesis Imperfecta
Brachycephaly, Convex nasal ridge, Flexion contracture, Delayed eruption of teeth, Micrognathia, ... ORPHA:666
Braddock-Carey Syndrome 1
Hyperlordosis, Enamel hypoplasia, Curly hair, Pierre-Robin sequence, Small hand, Wide nasal bridg... OMIM:619980
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Cerebral cortical atrophy, Humeroradial synostosis, Micrognathia,... OMIM:151050
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Retrognathia, High palate, Kyphosis, Wide nasal bridge, Micrognathia, Camptodac... OMIM:618393
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Elevated hepatic transaminase, Pectus excavatum, Hepatic steatosis, Decreased l... OMIM:613658
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia gliosis, Flexion contracture, Recurrent aspiration pneumonia, Lateral ventricle dil... ORPHA:79243
Beta-Thalassemia Major
Hypothyroidism, Adrenal insufficiency, Malar prominence, Hepatocellular carcinoma, Hepatosplenome... ORPHA:231214
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Brachycephaly, Long philtrum, Kyphosis, Wide nasal bridge, Synophry... OMIM:615761
Kabuki Syndrome 2
Dental malocclusion, Sparse lateral eyebrow, Decreased body weight, Short 5th finger, Natal tooth... OMIM:300867
Mucopolysaccharidosis, Type Iva
Grayish enamel, Lumbar kyphosis, Short neck, Ovoid vertebral bodies, Hepatomegaly, Anterior beaki... OMIM:253000
Lissencephaly 7 With Cerebellar Hypoplasia
Cerebellar hypoplasia, Micrognathia, Agyria, Agenesis of corpus callosum, Lissencephaly, Downturn... OMIM:616342
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Glycerol Kinase Deficiency
Small for gestational age, Adrenal insufficiency, Adrenocortical hypoplasia, Frontal bossing, Dow... OMIM:307030
Premature Ovarian Failure 8
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... OMIM:615723
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Mandibular prognathia, Advanced ossification of carpal bones, Short metacarpal,... OMIM:614613
46,Xx Gonadal Dysgenesis
Decreased fertility, Abnormality of secondary sexual hair, Ambiguous genitalia, Decreased serum e... ORPHA:243
Trisomy 18
Camptodactyly of finger, Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum, Narrow... ORPHA:3380
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse eyebrow, Mandibular prognathia, Scaphocephaly, Wide mouth, Frontal bossing, Thin upper lip... OMIM:619989
Frontonasal Dysplasia 1
Anterior basal encephalocele, Cranium bifidum occultum, Hypoplastic frontal sinuses, Wide nasal b... OMIM:136760
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Hypoplasia of the uterus, Primary amenorrhea ORPHA:247768
Ritscher-Schinzel Syndrome 4
Brachycephaly, Curly hair, Narrow palate, High palate, Wide nasal bridge, Wide mouth, Premature a... OMIM:619435
Wolf-Hirschhorn Syndrome
Wide nasal bridge, Micrognathia, Abnormal lip morphology, Short hallux, Calvarial skull defect, C... ORPHA:280
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Short metacarpal, Delayed eruption of teeth, Depressed nasal bridge, Short nec... OMIM:612463
Desmoplastic Small Round Cell Tumor
Anemia, Neoplasm of the lung, Weight loss, Neoplasm of the pancreas, Cachexia, Abnormality of the... ORPHA:83469
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Abnormal cerebral white matter morphology, Cachexia, Weight loss OMIM:613662
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Momo Syndrome
Short sternum, Dental malocclusion, Brachycephaly, High palate, Long philtrum, Wide nasal bridge,... OMIM:157980
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration... OMIM:612462
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Knee flexion contracture, Arthritis, Elbow flexion contracture, Pancytopenia, Hepatosplenomegaly,... OMIM:604416
Lymphoproliferative Syndrome 2
Oral ulcer, Pancytopenia, Hepatosplenomegaly, Recurrent pneumonia, Lymphadenopathy, Hemophagocyto... OMIM:615122
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly ORPHA:171703
Potocki-Shaffer Syndrome