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
increased heart weight Atrtm1b(KOMP)Wtsi HET Early adult 3.83×10-09
embryonic lethality prior to tooth bud stage Atrtm1b(KOMP)Wtsi HOM   E12.5 0.00
decreased circulating glucose level Atrtm1b(KOMP)Wtsi HET Early adult 4.67×10-06
preweaning lethality, complete penetrance Atrtm1b(KOMP)Wtsi HOM   Early adult 0.00
embryonic lethality prior to organogenesis Atrtm1b(KOMP)Wtsi HOM   E9.5 0.00
abnormal spinal cord morphology Atrtm1b(KOMP)Wtsi HET Early adult 0.00
increased fasting circulating glucose level Atrtm1b(KOMP)Wtsi HET   Early adult 1.24×10-05

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 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain Ambiguous
hindlimb 0.0%
liver Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
midbrain 0.0%
oral cavity 0.0%
skin Ambiguous
tail Ambiguous
tail somite group Ambiguous

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

Sleep Wake

Wake state (bmp file)

11 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

Adult LacZ

LacZ Images Section

23 Images

Eye Morphology

Images Slit Lamp

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

X-ray

XRay Images Forepaw

7 Images

Combined SHIRPA and Dysmorphology

Images

2 Images

Auditory Brain Stem Response

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

8 Images

Electroretinography

Rod waveform (pdf format)

6 Images

Electroretinography

Cone waveform (pdf format)

6 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
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Warburg Micro Syndrome 1
Kyphoscoliosis, Thin vermilion border, Cerebral atrophy, External genital hypoplasia, Hypoplasia ... OMIM:600118
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:610021
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Ossification Of The Posterior Longitudinal Ligament Of Spine
Diabetes mellitus, Myelopathy, Spinal cord compression OMIM:602475
Blepharophimosis-Impaired Intellectual Development Syndrome
Thin corpus callosum, Aplastic/hypoplastic toenail, Highly arched eyebrow, Narrow nasal ridge, Mi... OMIM:619293
Pycnodysostosis
Nail dysplasia, Spondylolysis, Cerebral dysmyelination, Spondylolisthesis, Ridged nail, Hyperlord... ORPHA:763
Mcdonough Syndrome
Abnormal palate morphology, Short philtrum, Cachexia, Mandibular prognathia, Open bite, Scoliosis... ORPHA:2471
Fanconi Anemia, Complementation Group S
Narrow palate, Ovarian neoplasm, Anemia, Dental malocclusion, Anteverted nares, Underdeveloped na... OMIM:617883
Cerebrooculofacioskeletal Syndrome 1
Kyphoscoliosis, Microcephaly, Long philtrum, Elbow flexion contracture, Hirsutism, Osteoporosis, ... OMIM:214150
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Bone Marrow Failure Syndrome 3
Aplastic anemia, Nail dystrophy, Hyperechogenic pancreas, Reduced bone mineral density, Small nai... OMIM:617052
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly, Cardiomyopathy OMIM:609016
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Microcephaly, Short philtrum, Anteverted nares, Scoliosis, Frontal bossing, Bulbous nos... OMIM:616801
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Lig4 Syndrome
Acute leukemia, Thin vermilion border, Brachycephaly, Hepatomegaly, Lymphadenopathy, Abnormal bon... ORPHA:99812
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Short nose, External genital hypoplasia, Hepatomegaly, Elevated circulating hepatic t... ORPHA:329178
Alpha-Mannosidosis
Narrow palate, Widely spaced teeth, Macrocephaly, Hepatomegaly, Craniofacial hyperostosis, Recurr... ORPHA:61
Microcephaly 16, Primary, Autosomal Recessive
Hypermelanotic macule, Decreased body weight, Micrognathia, Simplified gyral pattern, Open mouth,... OMIM:616681
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Renpenning Syndrome
High, narrow palate, Hypospadias, Short philtrum, Cachexia, Mandibular prognathia, Narrow mouth, ... ORPHA:3242
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Transaldolase Deficiency
Decreased liver function, Clitoral hypertrophy, Wide mouth, Splenomegaly, Micronodular cirrhosis,... OMIM:606003
Ethanolaminosis
Cardiomegaly OMIM:227150
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Secondary microcephaly, Kyphoscoliosis, Hepatomegaly, Osteoporosis, Elev... OMIM:614727
3Q13 Microdeletion Syndrome
Macrocephaly, Abnormality of the fontanelles or cranial sutures, Hypoplasia of penis, Anteverted ... ORPHA:1621
Camptodactyly Syndrome, Guadalajara Type 1
Abnormal form of the vertebral bodies, Highly arched eyebrow, Pectus excavatum, Microcephaly, Sho... ORPHA:1327
Hallermann-Streiff Syndrome
Hyperlordosis, Everted lower lip vermilion, Pectus excavatum, Microcephaly, Thin calvarium, Spars... OMIM:234100
Forsythe-Wakeling Syndrome
Decreased body weight, Osteoporosis, Microcephaly, Frontal bossing, Prominent nasal bridge, Throm... OMIM:613606
Seckel Syndrome 1
Clitoral hypertrophy, Dislocated radial head, Dental crowding, Microcephaly, Hip dislocation, Hyp... OMIM:210600
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Thin vermilion border, Frontal cortical atrophy, Narrow mouth, Arthrogryposis multiplex congenita... OMIM:618766
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Hyperpigmentation of the skin,... OMIM:609981
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Short nose, Hypoplastic female external genitalia, Plagiocephaly, Hypoplasia of th... OMIM:618577
Moynahan Syndrome
Cachexia, Hyperkeratosis, Microcephaly, Hypogonadism, Sparse hair, Alopecia ORPHA:2574
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Prominent occiput, Thoracic kyphoscoliosis, Relative macrocephaly, Pectus excavatum, Splenomegaly... OMIM:613385
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, Relative macrocephaly, Microdontia, Microcephaly, Sparse hair, Long philtrum, Fi... ORPHA:251028
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentratio... ORPHA:2959
Potocki-Lupski Syndrome
Hypoplasia of the corpus callosum, Dental crowding, Mandibular prognathia, Prominent nasal tip, H... OMIM:610883
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Macrocephaly, Acquired, With Impaired Intellectual Development
Thin corpus callosum, Macrocephaly, Narrow nasal bridge, Anteverted nares, Unilateral cryptorchid... OMIM:618286
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hall-Riggs Syndrome
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Platysp... OMIM:234250
Craniosynostosis 3
Right unicoronal synostosis, Bicoronal synostosis, Low anterior hairline, Left unicoronal synosto... OMIM:615314
Craniofacial Conodysplasia
Spinal cord compression ORPHA:85168
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Genu valgum, Abnormal vertebral morphology, ... ORPHA:166024
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Cachexia, Kyphosis, Microcephaly, Wide mouth, Hypogonadism, Joint hypermobil... ORPHA:85293
Lig4 Syndrome
Brachycephaly, Recurrent respiratory infections, Pancytopenia, Hypothyroidism, Failure to thrive,... OMIM:606593
Prieto Syndrome
Cerebral atrophy, Retrognathia, 11 pairs of ribs, Abnormality of the dentition, Osteoporosis, Pro... OMIM:309610
Aredyld Syndrome
Advanced eruption of teeth, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morph... ORPHA:1133
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Short 5th toe, Short first metatarsal, Increased overbite, Highly ar... OMIM:613684
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Microcephaly, Severe failure to thrive, Short philtrum, Anteverted nares, Scoliosis, El... ORPHA:371364
Hajdu-Cheney Syndrome
Delayed puberty, Partial absence of toe, Prominent occiput, Decreased skull ossification, Kyphosi... ORPHA:955
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly, Hip subluxation, Reduced bone mineral density, Thin corpus callosum, Scoliosis, Mi... OMIM:620200
Cornelia De Lange Syndrome 5
Retrognathia, Highly arched eyebrow, Microcephaly, Hypogonadism, Long philtrum, Anteverted nares,... OMIM:300882
Congenital Disorder Of Glycosylation, Type Iil
Cerebral atrophy, Retrognathia, Hypoplasia of the corpus callosum, Abnormal cortical gyration, Ci... OMIM:614576
Non-Distal Duplication 10Q
Brachycephaly, Short nose, Scoliosis, High palate, Everted lower lip vermilion, Pectus excavatum,... ORPHA:1695
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cerebral atrophy, Retrognathia, Abnormal number of incisors, Osteoporosis, Prominent nose, Crypto... ORPHA:2958
Aicardi-Goutieres Syndrome 4
Cerebral atrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytop... OMIM:610333
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Nail dysplasia, Premature graying of hair, Nail dystrophy, Pancytopenia, Palmopl... OMIM:613989
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Epiphyseal stippling, Failure to thrive, Downturned corners of mouth,... ORPHA:251009
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Lowry-Maclean Syndrome
Retrognathia, Generalized hypertrichosis, Microcephaly, Trigonocephaly, Short nasal bridge, Crani... ORPHA:2409
Schimke Immunoosseous Dysplasia
Hypermelanotic macule, Microdontia, Lymphopenia, Fine hair, Neutropenia, Pancytopenia, Bulbous no... OMIM:242900
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Wide nose, Scoliosis, Osteoporosis, Microcephaly, Short neck,... OMIM:616033
Pierpont Syndrome
Everted lower lip vermilion, Microcephaly, Broad philtrum, Short finger, Scoliosis, Failure to th... OMIM:602342
Cardiofaciocutaneous Syndrome 1
Multiple lentigines, Relative macrocephaly, Pectus excavatum, Low posterior hairline, Splenomegal... OMIM:115150
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Macrocephaly, Anemia, Calvarial osteosclerosis, Hepatomegaly, Panc... OMIM:259700
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism ORPHA:1643
Christianson Syndrome
Abnormality of the nose, Cachexia, Mandibular prognathia, Pectus excavatum, Microcephaly, Cerebra... ORPHA:85278
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Mulibrey Nanism
Hepatomegaly, Thickened cortex of long bones, Recurrent lower respiratory tract infections, Wide ... OMIM:253250
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Cranioectodermal Dysplasia
Rhizomelia, Joint hypermobility, Prominent occiput, Abnormal dental enamel morphology, Anteverted... ORPHA:1515
19Q13.11 Microdeletion Syndrome
Nail dysplasia, Retrognathia, Thin vermilion border, Solitary median maxillary central incisor, H... ORPHA:217346
Hajdu-Cheney Syndrome
Kyphoscoliosis, Dislocated radial head, Biconcave vertebral bodies, Crowded carpal bones, Umbilic... OMIM:102500
Bloom Syndrome
Hypopigmentation of the skin, Microcephaly, Elevated hemoglobin A1c, Agenesis of maxillary latera... OMIM:210900
Mccune-Albright Syndrome
Hepatocellular adenoma, Cholestasis, Bone marrow hypocellularity, Ovarian cyst, Polyostotic fibro... ORPHA:562
Pierpont Syndrome
Brachycephaly, Thin vermilion border, High anterior hairline, Widely spaced teeth, Abnormal corti... ORPHA:487825
Rubinstein-Taybi Syndrome 1
Retrognathia, Dislocated radial head, Dental crowding, Highly arched eyebrow, Parietal foramina, ... OMIM:180849
Flynn-Aird Syndrome
Kyphoscoliosis, Alopecia of scalp, Increased bone mineral density, Hyperkeratosis, Osteoporosis, ... OMIM:136300
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Premature ovarian insufficiency, Thin nail, Conical tooth, Absent eyelashes, Hype... OMIM:618625
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... OMIM:611548
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Periventricular white matter hyperintensities, Scoliosis, Incisor macrod... OMIM:619719
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries OMIM:184700
Takenouchi-Kosaki Syndrome
Highly arched eyebrow, Progressive microcephaly, Abnormal periventricular white matter morphology... OMIM:616737
Dyskeratosis Congenita, Autosomal Recessive 1
Aplastic anemia, Nail dystrophy, Pterygium of nails, Pancytopenia, Palmoplantar hyperkeratosis, P... OMIM:224230
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Thick lower lip vermilion, Pancytopenia, Hypoplasia of penis, Bifid scrotum, Abnormality of the d... ORPHA:85321
Robinow Syndrome, Autosomal Dominant 2
Kyphoscoliosis, Dental crowding, Mesomelia, Wide mouth, Umbilical hernia, Long philtrum, Short di... OMIM:616331
Zimmermann-Laband Syndrome
Generalized hypertrichosis, Bifid uvula, Wide mouth, Splenomegaly, Joint hypermobility, Generaliz... ORPHA:3473
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Flynn-Aird Syndrome
Cachexia, Bone cyst, Scoliosis, Cerebral calcification, Kyphosis, Joint stiffness, Carious teeth,... ORPHA:2047
Fragile X Syndrome
Macrocephaly, Congenital macroorchidism, Folate-dependent fragile site at Xq28, Macroorchidism, p... OMIM:300624
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Dislocated radi... OMIM:101800
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Retrognathia, Thin corpus callosum, Dental crowding, Leukopenia, Umbilical hernia, Lymphopenia, L... OMIM:620654
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Microcephaly, Frontal bossing, Short distal phalanx of finger, Wormian bones, Joint... ORPHA:2787
Craniofrontonasal Dysplasia
Pectus excavatum, Low posterior hairline, Microcephaly, Joint hypermobility, Craniosynostosis, Wi... ORPHA:1520
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Microlissencephaly, Hypoplasia of the brainstem, Failure to th... OMIM:617090
Hamamy Syndrome
Everted lower lip vermilion, Low posterior hairline, Pectus excavatum, Wide mouth, Sparse hair, L... OMIM:611174
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Pancytopenia, Hyper... OMIM:617872
Acrootoocular Syndrome
Kyphoscoliosis, Supernumerary tooth, Grayish enamel, Decreased response to growth hormone stimula... ORPHA:2980
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Nail dysplasia, Premature graying of hair, Nail dystrophy, Macrocytic anemia, Ce... OMIM:613990
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Cachexia, Hyperlordosis, Everted lower lip vermilion... ORPHA:800
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Reduced bone mineral density, Abnormal hair morphology, Cachexia, Narr... ORPHA:1979
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Maternal Uniparental Disomy Of Chromosome X
Thin vermilion border, Cubitus valgus, Azoospermia, Scoliosis, Hypopigmentation of the skin, Low ... ORPHA:261519
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Premature graying of hair, Osteopenia, Cirrhosis, Mediastinal lymphadenopathy, A... OMIM:614742
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Large fontanelles, Rhizomelia, Short philtrum, Cloverleaf skull, Decreased skull ossification, Fr... ORPHA:93267
Silver-Russell Syndrome
Secondary microcephaly, Thin vermilion border, Hypospadias, Abnormal vagina morphology, Abnormal ... ORPHA:813
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Flexion contracture of toe, Malar prominence, Scoliosis, Finger joint contracture, Osteoporosis, ... ORPHA:48431
Baraitser-Winter Syndrome 1
Retrognathia, Highly arched eyebrow, Low posterior hairline, Microcephaly, Trigonocephaly, Wide m... OMIM:243310
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Turricephaly, Umbilical hernia, Long philtrum, Craniosynostosis, Hypospadias, Anteverted nares, S... ORPHA:171839
Winchester Syndrome
Carpal osteolysis, Gingival overgrowth, Hirsutism, Arthropathy, Kyphosis, Generalized osteoporosi... OMIM:277950
Degcags Syndrome
Premature graying of hair, Retrognathia, Abnormal spleen morphology, Hypopigmentation of the skin... OMIM:619488
Ovarian Fibrothecoma
Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification... ORPHA:314478
Van Maldergem Syndrome 2
Bifid scrotum, Joint hypermobility, Subcortical band heterotopia, Short 4th metacarpal, Sacral di... OMIM:615546
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Abnormality of the dentition, Osteoporosis OMIM:615269
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebral atrophy, Short 5th toe, Decreased body weight, Short 2nd toe, Short 4th toe, Failure to ... OMIM:619060
Fragile X Syndrome
Macrocephaly, Folate-dependent fragile site at Xq28, Mandibular prognathia, Scoliosis, Sinusitis,... ORPHA:908
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Cranial hyperostosis, Osteopetrosis, Genu valgum, An... OMIM:259710
Fanconi Anemia, Complementation Group D2
Microcephaly, Bone marrow hypocellularity, Aplasia of the 1st metacarpal, Absent thumb, Absent ra... OMIM:227646
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Fanconi Anemia, Complementation Group C
Anterior wedging of T12, Microcephaly, Bone marrow hypocellularity, Absent thumb, Absent radius, ... OMIM:227645
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis, Synophrys, Microcephaly, Prominent nose, Dental malocclusion OMIM:615541
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Microcephaly, Abnormality of chromosome stability, Pancytopenia OMIM:600546
Corpus Callosum, Agenesis Of
Macrocephaly, Camptodactyly, Microcephaly, Frontal bossing, Agenesis of corpus callosum, Joint co... OMIM:217990
Hemifacial Atrophy, Progressive
Short mandibular rami, Delayed eruption of teeth, Patchy alopecia, Poliosis, Kyphosis, Dental mal... OMIM:141300
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Hypoplasia of the corpus callosum, Lissencephaly, Cerebellar vermis hypoplasia, Polymicrogyria, M... OMIM:610031
6Q25 Microdeletion Syndrome
Plagiocephaly, External genital hypoplasia, High palate, Microcephaly, Camptodactyly of finger, M... ORPHA:251056
Greig Cephalopolysyndactyly Syndrome
Nail dysplasia, Hypoplasia of the corpus callosum, Macrocephaly, Cerebellar hypoplasia, Hypospadi... OMIM:175700
Tetrasomy 12P
Short nose, Delayed eruption of teeth, Abnormal soft palate morphology, Cachexia, Anteverted nare... ORPHA:884
Chromosome 3Pter-P25 Deletion Syndrome
Retrognathia, Highly arched eyebrow, Microcephaly, Trigonocephaly, Long philtrum, Sacral dimple, ... OMIM:613792
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Nail dystrophy, Dental crowding, Joint stiffness, Pathologic fracture, De... OMIM:614008
Intermediate Osteopetrosis
Anemia, Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Recurrent f... ORPHA:210110
Oculodentodigital Dysplasia, Autosomal Recessive
Long nose, Hypoplasia of the primary teeth, Dental crowding, Sparse hair, Long philtrum, Fine hai... OMIM:257850
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Kyphoscoliosis, Platyspondyly, Delayed eruption of teeth, Dislocated radial head, Hig... OMIM:612350
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Microcephaly, Splenomegaly, Acute myelomonocytic le... ORPHA:2585
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Kyphoscoliosis, Atlantoaxial dislocation, Prominent occiput,... OMIM:602535
Acquired Idiopathic Sideroblastic Anemia
Abnormal megakaryocyte morphology, Normochromic anemia, Anemia of inadequate production, Bone mar... ORPHA:75564
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Bifid scrotum, Microcephaly, Trigonocephaly, Penoscrotal transposition, Advanced eru... OMIM:619148
Ruijs-Aalfs Syndrome
Premature graying of hair, Elbow flexion contracture, Decreased body weight, Pectus excavatum, Os... OMIM:616200
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Neu-Laxova Syndrome
Retrognathia, Prominent occiput, Cerebral calcification, Everted lower lip vermilion, Microcephal... ORPHA:2671
Auriculocondylar Syndrome 2A
Short mandibular rami, Macrocephaly, Dental crowding, Mandibular condyle hypoplasia, Temporomandi... OMIM:614669
Bangstad Syndrome
Convex nasal ridge, Retrognathia, Pancytopenia, Cerebral hypoplasia, Goiter, Primary gonadal insu... OMIM:210740
Intellectual Disability-Strabismus Syndrome
Highly arched eyebrow, Narrow nasal ridge, Congenital finger flexion contractures, Microcephaly, ... ORPHA:363528
Cronkhite-Canada Syndrome
Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Macrocephaly, Anemia, Hepatomegaly, Ca... ORPHA:2930
Noonan Syndrome 4
Large for gestational age, High anterior hairline, Pectus excavatum of inferior sternum, Cubitus ... OMIM:610733
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Brachycephaly, Encephalocele, Conical tooth, Anteverted nares, Underdeveloped nasal alae, Calvari... ORPHA:228390
Imagawa-Matsumoto Syndrome
Macrocephaly, Polymicrogyria, Mandibular prognathia, Camptodactyly, Wide nasal ridge, Melanocytic... OMIM:618786
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus excavatum, Brachyturricephaly, Microcephaly, Umbilical hernia, Joi... OMIM:182212
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Harrod Syndrome
Hypopigmented skin patches, Long nose, Hypospadias, Scoliosis, Narrow mouth, High palate, Kyphosi... ORPHA:2115
Radio-Tartaglia Syndrome
Retrognathia, Small nail, Highly arched eyebrow, Dental crowding, Microcephaly, Wide mouth, Long ... OMIM:619312
Trichorhinophalangeal Syndrome, Type I
Hyperlordosis, Short metacarpal, Microdontia, Concave nail, Long philtrum, Fine hair, Narrow pala... OMIM:190350
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Scoliosis, Osteoporosis, Micr... ORPHA:2169
Cleidocranial Dysplasia
Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal sacrum morphology, Scoliosis, Dys... ORPHA:1452
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Hyperpigmentation of the skin, Prolonged G2 phase of cell cycle, Chromosoma... OMIM:600901
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Short philtrum, Highly arched eyebrow, Anteverted nares, Prominent nasal tip, Scol... OMIM:615834
Fanconi Anemia, Complementation Group A
Male infertility, Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Prol... OMIM:227650
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cerebral atrophy, Abnormal cortical bone morphology, Elevated circulating hepatic transaminase co... OMIM:614886
Intellectual Disability, Buenos-Aires Type
Reduced bone mineral density, Abnormal calvaria morphology, Hyperconvex thumb nails, Mandibular p... ORPHA:3079
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Decreased response to growth hormone stimulation test, Fused cervical v... OMIM:609053
Hao-Fountain Syndrome
Large fontanelles, Delayed cranial suture closure, Trigonocephaly, Premature adrenarche, Cryptorc... OMIM:616863
Beaulieu-Boycott-Innes Syndrome
Long nose, High anterior hairline, Premature ovarian insufficiency, Endometriosis, Low hanging co... OMIM:613680
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Highly arched eyebrow, Cortical dysplasia, Small cerebral cort... OMIM:608716
Robinow Syndrome
Nail dysplasia, Kyphoscoliosis, Mesomelic arm shortening, Acromesomelia, Small nail, Broad alveol... ORPHA:97360
Neuropathy, Congenital Hypomyelinating, 3
Narrow palate, Retrognathia, Hypoplasia of the corpus callosum, Cachexia, Gingival overgrowth, Hi... OMIM:618186
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Fusion of the caudate and putamen, Thin corpus callosum, Corti... OMIM:614039
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Umbilical hernia, Scoliosi... OMIM:255800
Ataxia-Telangiectasia
Premature graying of hair, Delayed puberty, Elevated circulating hepatic transaminase concentrati... ORPHA:100
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Retrognathia, Elevated circulating hepatic transaminase concentration, Small nail, Optic nerve hy... OMIM:301056
Muenke Syndrome
Brachycephaly, Plagiocephaly, Macrocephaly, Cloverleaf skull, Short middle phalanx of toe, High p... OMIM:602849
Lissencephaly, X-Linked, 2
Lissencephaly, Wide anterior fontanel, Long upper lip, Gliosis, High palate, Decreased testicular... OMIM:300215
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Retrognathia, High anterior hairline, Premature ovarian insufficiency... ORPHA:363444
Ovarian Dysgenesis 2
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:300510
Macs Syndrome
Pectus excavatum, Eclabion, Sparse hair, Umbilical hernia, Long philtrum, Joint hypermobility, Re... OMIM:613075
Fanconi Anemia, Complementation Group P
Hypoplasia of the radius, Anemia, Pancytopenia, Cafe-au-lait spot, Microcephaly, Micrognathia, Ab... OMIM:613951
Cantu Syndrome
Large for gestational age, Thick lower lip vermilion, Platyspondyly, Patent ductus arteriosus, Cu... OMIM:239850
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly, Short philtrum, Tooth malposition, Scoliosis, Hyperlordosis, High palate, Furrowed... ORPHA:1387
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Megalencephaly, Macrocephaly, Highly arched eyebrow, Oligodontia, High palate, Dec... OMIM:600325
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal oral cavity morphology, Pancytopenia, Abnormal ma... ORPHA:507
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Pectus excavatum, Long philtrum, Hypoplasia of the ulna, Anteverted nares, Scoliosis, Abnormality... OMIM:615398
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis, Osteoporosis, Adrenocortical hypoplasia, Cryptorchidism ORPHA:408
Agammaglobulinemia 8B, Autosomal Recessive
Everted upper lip vermilion, Anemia, Short philtrum, Pancytopenia, B lymphocytopenia, Increased p... OMIM:619824
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Hypoplasia of the corpus callosum, Anteverted nares, Microcephaly, Simplified g... OMIM:618492
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta, Delayed eruption of teeth, Low posterior hairline, Osteoporosis, Cafe-au-lait spo... ORPHA:73272
7Q11.23 Microduplication Syndrome
Retrognathia, Pectus excavatum, Joint hypermobility, Craniosynostosis, Abnormal columella morphol... ORPHA:96121
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Abnormal palate morphology, Alopecia of scalp, Reduced bone mineral de... ORPHA:2617
Van Maldergem Syndrome 1
Subcortical band heterotopia, Joint hypermobility, Short 4th metacarpal, Sacral dimple, Hypospadi... OMIM:601390
Lessel-Kreienkamp Syndrome
Plagiocephaly, Frontal bossing, Wide cranial sutures, Open mouth, Patent ductus arteriosus, Denta... OMIM:619149
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Chromosome 16Q22 Deletion Syndrome
Hypospadias, Highly arched eyebrow, Wide anterior fontanel, High palate, Prominent metopic ridge,... OMIM:614541
Apert Syndrome
Limited elbow movement, Megalencephaly, Brachyturricephaly, Bifid uvula, Craniosynostosis, Narrow... OMIM:101200
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Labial hypoplasia, Cerebellar vermis hypoplasia, Scoliosis, Hirsutism, Narrow vertebral interpedi... OMIM:620073
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Recombinant Chromosome 8 Syndrome
Secondary microcephaly, Brachycephaly, Cerebral atrophy, Thick lower lip vermilion, Anteverted na... OMIM:179613
Turnpenny-Fry Syndrome
Hypoplasia of the primary teeth, Dental crowding, Thoracic kyphoscoliosis, Relative macrocephaly,... OMIM:618371
Fanconi Anemia, Complementation Group F
Hypoplasia of the radius, Decreased response to growth hormone stimulation test, Sacral dimple, A... OMIM:603467
Maxillonasal Dysplasia, Binder Type
Short nose, Patchy distortion of vertebrae, Vertebral clefting, Short distal phalanx of finger, D... OMIM:155050
Cri-Du-Chat Syndrome
Premature graying of hair, Orofacial cleft, Thick lower lip vermilion, Hypospadias, Short philtru... OMIM:123450
Gaucher Disease Type 1
Delayed puberty, Leukopenia, Splenomegaly, Pathologic fracture, Osteolysis, Pancytopenia, Splenic... ORPHA:77259
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Brachycephaly, Retrognathia, Hypoplasia of the corpus callosum, Lissencephaly, Highly arched eyeb... OMIM:618142
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Cerebellar-Facial-Dental Syndrome
Inferior cerebellar vermis hypoplasia, Microcephaly, Sparse hair, Long philtrum, Fine hair, Alveo... ORPHA:444072
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Micrognathia, Cleft palate, Agenesis of corpus callosum, Cerebellar hypoplasia, Art... OMIM:616570
Potocki-Shaffer Syndrome
Delayed puberty, Brachycephaly, Anemia, Short philtrum, Parietal foramina, Decreased skull ossifi... ORPHA:52022
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypopigmentation of the skin, Hypogonadism, Hypothalamic luteinizing hormo... ORPHA:398079
Autism Spectrum Disorder Due To Auts2 Deficiency
Retrognathia, Short philtrum, Joint contracture of the 5th finger, Highly arched eyebrow, Antever... ORPHA:352490
Robinow Syndrome, Autosomal Dominant 3
Kyphosis, Mesomelia, Long philtrum, Sacral dimple, Triangular mouth, Anteverted nares, Scoliosis,... OMIM:616894
Desmosterolosis
Retrognathia, Microcephaly, Bifid uvula, Splenomegaly, Abnormal cortical gyration, Increased bone... ORPHA:35107
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Hypoplasia of penis, Abnormality of the philtrum, Short foot, Osteopo... ORPHA:3409
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Cockayne Syndrome B
Kyphosis, Microcephaly, Splenomegaly, Sparse hair, Delayed eruption of primary teeth, Subcortical... OMIM:133540
Dyskeratosis Congenita
Premature graying of hair, Hypermelanotic macule, Neoplasm of the pancreas, Nail dystrophy, Aplas... ORPHA:1775
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Small nail, Kyphosis, Bifid uvula, Short distal pha... OMIM:618658
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Nail dystrophy, Hyperconvex toenail, Hyperconvex fingernails, Abnormal hair morpholog... ORPHA:319195
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Highly arched eyebrow, Tracheobronchomalacia, Abnormal periventricular white matter morphology, M... ORPHA:500159
Ventriculomegaly And Arthrogryposis
Micrognathia, Ulnar deviation of the wrist, Agenesis of corpus callosum, Cerebellar hypoplasia, A... OMIM:619501
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Microcephaly, Lumbar scoliosis, Micrognathia, Hypoplasia of the pons, Simplifie... OMIM:616171
Emanuel Syndrome
Kyphoscoliosis, Dental crowding, Microcephaly, Bifid uvula, Hypogonadism, Long philtrum, Sacral d... ORPHA:96170
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Recurrent sinusitis, Splenomegaly, Br... OMIM:620282
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Dental crowding, Pectus excavatum, Paranasal sinus hypoplasia, Bifid ... OMIM:300373
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Premature graying of hair, Nail dystrophy, Ridged nail, Bone marrow hypocellular... OMIM:127550
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Cafe-au-lait spot, Bone marrow hypocellularity, Failure to thrive, Microc... OMIM:605724
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Scoliosis, Hypermobility of i... OMIM:613849
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Dental crowding, Microcephaly, Long philtrum, Short finger, Hypospadias, Scoliosis, Osteoporosis,... OMIM:300998
Primary Myelofibrosis
Abnormal megakaryocyte morphology, Hepatomegaly, Anemia, Lymphadenopathy, Bone marrow hypercellul... ORPHA:824
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Recurrent respirator... OMIM:300635
Aggressive Systemic Mastocytosis
Decreased liver function, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Panc... ORPHA:98850
Potocki-Shaffer syndrome
Abnormality of the male genitalia, Delayed cranial suture closure, Parietal foramina DECIPHER:34
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Pancytopenia, Arthropathy, Hepatic fibrosis, Failure... OMIM:619858
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Kyph... ORPHA:2232
Adenylosuccinate Lyase Deficiency
Brachycephaly, Short nose, Flat occiput, Anteverted nares, Hypointensity of cerebral white matter... ORPHA:46
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Large fontanelles, Short nose, Gingival fibromatosis, Anteverted nares, Gingival ov... ORPHA:1832
Mulibrey Nanism
Cachexia, Macrocephaly, Wide nasal bridge, Hepatomegaly ORPHA:2576
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Parietal ... OMIM:616602
Fetal Gaucher Disease
Stillbirth, Hepatomegaly, Pancytopenia, Anteverted nares, High palate, Neonatal death, Thrombocyt... ORPHA:85212
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplasia of the corpus callosum, Wide nose, Prominent occiput, Abnormal calvaria morphology, Ce... ORPHA:89844
Alpha-Mannosidosis, Infantile Form
Highly arched eyebrow, Pectus excavatum, Joint stiffness, Umbilical hernia, Joint hypermobility, ... ORPHA:309282
Premature Aging Syndrome, Penttinen Type
Retrognathia, Aplasia of the nasal bone, Flexion contracture of finger, Thin calvarium, Sparse ha... OMIM:601812
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran... ORPHA:158057
Osteopetrosis, Autosomal Recessive 5
Microcephaly, Splenomegaly, Long philtrum, Cranial hyperostosis, Pancytopenia, Increased bone min... OMIM:259720
Marden-Walker Syndrome
Inferior cerebellar vermis hypoplasia, Kyphosis, Microcephaly, Long philtrum, Hypospadias, Dandy-... OMIM:248700
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Au-Kline Syndrome
Retrognathia, Bifid nasal tip, Lipomyelomeningocele, Pectus excavatum, Bifid uvula, Craniosynosto... OMIM:616580
Spastic Paraplegia 18B, Autosomal Recessive
Hypoplasia of the corpus callosum, Scoliosis, High palate, Kyphosis, Joint contracture, Ankle clonus OMIM:611225
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosplenomegaly, Sple... OMIM:618963
Cockayne Syndrome A
Kyphosis, Microcephaly, Splenomegaly, Hypogonadism, Sparse hair, Delayed eruption of primary teet... OMIM:216400
Frank-Ter Haar Syndrome
Kyphoscoliosis, Broad alveolar ridges, Pectus excavatum, Kyphosis, Wide mouth, Anteverted nares, ... OMIM:249420
Larsen-Like Syndrome
Brachycephaly, Kyphoscoliosis, Macrocephaly, Joint dislocation, Wide anterior fontanel, Frontal b... OMIM:608545
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, Plagiocephaly, Hypoplasia of the corpus callosum, Tooth malposition, High palate, ... OMIM:618603
19P13.3 Microduplication Syndrome
Kyphoscoliosis, Cerebral atrophy, Hip subluxation, Short philtrum, Narrow mouth, Osteoporosis, Un... ORPHA:447980
Lissencephaly 4
Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Cerebellar hypoplasia, Lisse... OMIM:614019
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Cerebellar vermis hypoplasia, Megakaryocytopenia,... OMIM:604498
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal bone marrow cell morphology, Osteoporosis, Spleno... ORPHA:100024
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Nail dystrophy, Tiger tail banding, Sparse eyebrow, Sparse hair, Joint hyper... OMIM:619692
Bohring-Opitz Syndrome
Retrognathia, Hyperechogenic pancreas, Dislocated radial head, Bilateral cleft palate, Broad alve... OMIM:605039
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Gliosis, Cerebellar hemisphere hypoplasia, Choanal atresia, Reduced cerebral wh... OMIM:615095
Transcobalamin Deficiency
Pancytopenia, Abnormality of chromosome stability, Thrombocytopenia, Lymphopenia, Megaloblastic b... ORPHA:859
Gillessen-Kaesbach-Nishimura Syndrome
Brachycephaly, Retrognathia, Abnormal lung lobation, Periportal fibrosis, Wide anterior fontanel,... OMIM:263210
Three M Syndrome 2
Delayed eruption of teeth, Anteverted nares, Prominent nasal tip, Hyperlordosis, High palate, Rel... OMIM:612921
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Retrognathia, Wide mouth, Long philtrum, Fine hair, Narrow palate, Short philtrum, Scoliosis, Fro... OMIM:620250
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Anemia, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase co... ORPHA:298
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, Hy... OMIM:235200
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Kyphosis, Corpus callosum atrophy, Microcephaly, Lateral ventricle dilatat... OMIM:619244
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Lymphocytosis, Splenomegaly, Hemoly... OMIM:614470
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Short Stature-Wormian Bones-Dextrocardia Syndrome
Anterior hypopituitarism, Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the ph... ORPHA:2863
Neonatal Lupus Erythematosus
Aplastic anemia, Parakeratosis, Macrocephaly, Anemia, Hepatomegaly, Elevated circulating hepatic ... ORPHA:398124
2Q32Q33 Microdeletion Syndrome
Brachycephaly, Thin vermilion border, Joint hypermobility, Dental crowding, Oligodontia, Antevert... ORPHA:251019
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Nail dysplasia, Long nose, Aplasia/hypoplasia involving bones of the upper limbs... ORPHA:221016
Multiple Pterygium Syndrome, Escobar Variant
Dislocated radial head, Kyphosis, Umbilical hernia, Long philtrum, Hip dislocation, Absence of la... OMIM:265000
Fanconi Anemia, Complementation Group B
Aplastic anemia, Hypoplasia of the corpus callosum, Abnormal lung lobation, Abnormal vertebral mo... OMIM:300514
Cofs Syndrome
Cerebral calcification, Everted lower lip vermilion, Aplasia/Hypoplasia of the cerebellum, Promin... ORPHA:1466
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Abnormal bone ossification, Flat acetabular roof, Delayed patella... ORPHA:163649
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Kyphoscoliosis, Nail dystrophy, Microdontia, Hypogonadism, Sparse hair... OMIM:268400
Prader-Willi Syndrome
Small pituitary gland, Decreased circulating gonadotropin concentration, Hypopigmentation of the ... ORPHA:739
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Optic ner... OMIM:618736
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dental ... OMIM:615381
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Abnormal heart morpholo... ORPHA:99886
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly, Sacral dimple, Hypospadias, Dental crowding, Anteverted nares, Hyperlordosis, Scol... OMIM:615761
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Ankle clonus, Thrombocytopenia, Abnormal cerebral white matter morphology, ... OMIM:159550
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Re... OMIM:308240
Intellectual Developmental Disorder, Autosomal Dominant 48
Highly arched eyebrow, Tracheobronchomalacia, Microcephaly, Lateral ventricle dilatation, Umbilic... OMIM:617751
Werner Syndrome
Premature graying of hair, White forelock, Joint stiffness, Abnormal hair whorl, Hypogonadism, Pi... ORPHA:902
4Q21 Microdeletion Syndrome
Thin vermilion border, Large fontanelles, Short philtrum, Scoliosis, Abnormality of the dentition... ORPHA:238750
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight, Everted lower lip vermilion, Abnormality of the hypo... ORPHA:1672
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the uterus, Amenorrhea, Hypopla... ORPHA:3130
Pseudohypoparathyroidism, Type Ia
Short finger, Elevated circulating parathyroid hormone level, Short metatarsal, Delayed eruption ... OMIM:103580
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Momo Syndrome
Brachycephaly, Large for gestational age, Abnormal bone ossification, Thick lower lip vermilion, ... ORPHA:2563
Rothmund-Thomson Syndrome
Aplastic anemia, Nail dysplasia, Reduced bone mineral density, Small nail, Hypopigmentation of th... ORPHA:2909
Lissencephaly 3
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria, Agyria, Microcep... OMIM:611603
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Hypospadias, Scoliosis, Microcephaly, Cerebral cortical atrophy, Abnormal hair pattern, Generaliz... ORPHA:2508
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Hypopigmentation of the skin, ... ORPHA:98754
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cortical dysplasia, Mandibular prognathia, Osteoporosis, Recurrent aspiration pneumonia, Cerebell... OMIM:619971
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormality of the endocrine system, Highly arched eyebrow, Abnormal periventricular white matter... ORPHA:487796
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Cervical spinal canal stenosis, Hypoplasia of the prostate, Shortening of all mi... OMIM:301900
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Kyphosis, Platyspondyly, Al... ORPHA:2786
Desbuquois Dysplasia 1
Hyperlordosis, Flat acetabular roof, Kyphosis, Joint hypermobility, Long philtrum, Genu varum, Jo... OMIM:251450
Ck Syndrome
Retrognathia, Abnormal cortical bone morphology, Dental crowding, Scoliosis, Hyperlordosis, High ... OMIM:300831
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short ribs, Decreased skull ossification, Microcephaly, Multiple prenatal fractures, Unilateral c... OMIM:616897
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Thin corpus callosum, Everted lower lip vermilion, Low posterior hairline, Microcephaly, Wide mou... OMIM:619720
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Narrow palate, Retrognathia, Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Ma... OMIM:620428
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Hypopigmentation of the skin, ... ORPHA:177901
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Anteverted nares, Mandibular prognathia, Relative macrocephaly, High palate, Dental malocclusion OMIM:618292
Carpenter Syndrome 1
Umbilical hernia, Genu varum, External genital hypoplasia, Sacral dimple, Scoliosis, Camptodactyl... OMIM:201000
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, Plagiocephaly, Short philtrum, High palate, Kyphosis, Decreased testicular size, D... OMIM:615433
Multicentric Osteolysis, Nodulosis, And Arthropathy
Kyphoscoliosis, Hypermelanotic macule, Ankylosis of feet small joints, Wrist flexion contracture,... OMIM:259600
Propionic Acidemia
Cerebral atrophy, Hepatomegaly, Anemia, Pancreatitis, Pancytopenia, Osteoporosis, Failure to thri... OMIM:606054
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebral atrophy, Widely spaced teeth, Thick lower lip vermilion, Thin corpus callosum, Delayed e... OMIM:619797
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Osteo... ORPHA:79301
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Chromosome 5P13 Duplication Syndrome
Brachycephaly, Turricephaly, Macrocephaly, Short philtrum, Low hanging columella, Scoliosis, High... OMIM:613174
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Hypopigmentation of the skin, ... ORPHA:98793
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Abnormal lateral ventricle morphology, Decreased response to growth ... ORPHA:1855
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Cachexia, Hyperlordosis, Limitation of joint mobility, Flexion contracture, Join... ORPHA:157973
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Hirsutism, Kyphosis, Small for gestational age, Recurrent r... ORPHA:85288
Usmani-Riazuddin Syndrome, Autosomal Recessive
High palate, Pectus excavatum, Lumbar scoliosis, Agenesis of corpus callosum, Joint hypermobility OMIM:619548
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Hypopigmentation of the skin, ... ORPHA:177904
Osteopetrosis With Renal Tubular Acidosis
Retrognathia, Cerebral calcification, Pectus excavatum, Abnormal periventricular white matter mor... ORPHA:2785
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Recurrent sinusitis, Splenomegaly, Type I diabetes mellitus, Pancytopenia, T... OMIM:614700
Alexander Disease Type I
Focal T2 hyperintense basal ganglia lesion, Cachexia, Scoliosis, Failure to thrive, Abnormal cere... ORPHA:363717
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Cholangitis, Pancytopenia, Prominent occiput, Neutropenia in presence of anti-neutropi... ORPHA:228426
Cornelia De Lange Syndrome 2
Brachycephaly, Limited elbow movement, Highly arched eyebrow, Anteverted nares, Hirsutism, High p... OMIM:300590
Dominant Beta-Thalassemia
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Hypersplenism, Adrenal insuffic... ORPHA:231226
Dyskeratosis Congenita, X-Linked
Premature graying of hair, Nail dystrophy, Ridged nail, Microcephaly, Bone marrow hypocellularity... OMIM:305000
Lissencephaly, X-Linked, 1
Agyria, Pachygyria, Agenesis of corpus callosum, Lissencephaly, Micropenis OMIM:300067
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Increased body weight, Hypopigmentation of the skin, Kyphosis, Hypogonadis... ORPHA:398069
Griscelli Syndrome Type 2
Premature graying of hair, Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopeni... ORPHA:79477
Sotos Syndrome
Small nail, Increased body weight, Prolonged neonatal jaundice, Joint hypermobility, Narrow palat... OMIM:117550
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Scoliosis, Kyphosis, Osteoporosis, Failure to thr... OMIM:618234
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Odontochondrodysplasia 1
Biconvex vertebral bodies, Platyspondyly, Macrocephaly, Delayed eruption of teeth, Genu recurvatu... OMIM:184260
Martin-Probst Syndrome
Thick lower lip vermilion, Pancytopenia, Hypoplastic nipples, Bifid scrotum, Hypothyroidism, Micr... OMIM:300519
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Short nose, Toenail dysplasia, Spina bifida occulta, Spondylolisthesis, Anterior open... OMIM:617877
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Phelan-Mcdermid Syndrome
Widely spaced teeth, Sacral dimple, Toenail dysplasia, Patent ductus arteriosus, Macrocephaly, Hi... OMIM:606232
Riboflavin Transporter Deficiency
Diabetes insipidus, Cachexia, Cerebral cortical atrophy, Iris hypopigmentation, Hypogonadism ORPHA:97229
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Hyperlordosis, Kyphosis, Wide mouth, Large elbow, Joint hypermobility, Cervi... OMIM:253000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated circulating hepatic transaminase concentration, Inappropriate antidiuretic hormone secre... ORPHA:79124
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Abnormality of primary teeth, Tooth agenesis, Microcephaly, Bifid uvula, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Abnormality of primary teeth, Tooth agenesis, Microcephaly, Bifid uvula, ... ORPHA:352665
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Kyphoscoliosis, Dental crowding, Pectus excavatum, Bifid uvula, Short philtrum, Anteverted nares,... OMIM:309583
Williams-Beuren Region Duplication Syndrome
Brachycephaly, Hypoplasia of the corpus callosum, Decreased response to growth hormone stimulatio... OMIM:609757
Coffin-Lowry Syndrome
Hyperconvex fingernails, Highly arched eyebrow, Everted lower lip vermilion, Pectus excavatum, Ky... OMIM:303600
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia, Simplified gyral pattern, Agenesis of corpus callo... OMIM:619302
Sialidosis Type 2
Hepatomegaly, Abnormal bone marrow cell morphology, Kyphosis, Osteoporosis, Flexion contracture, ... ORPHA:87876
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Decreased body weight, Thrombocytopenia, Splenomegaly OMIM:231000
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Abnormality of the dentition, Osteoporosis, Fem... OMIM:300604
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Splenomegaly, Diffuse alveolar hemorrh... OMIM:616050
Desmosterolosis
Ambiguous genitalia, male, Relative macrocephaly, Microcephaly, Alveolar ridge overgrowth, Rhizom... OMIM:602398
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Aplastic anemia, Premature graying of hair, Cirrhosis, Pancytopenia, Bone marrow hypocellularity,... OMIM:614743
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Nail dysplasia, Sparse or absent eyelashes, Hypopigmentation of the skin, Short ... ORPHA:221008
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Mandibular prognathia, Microcephaly, Frontal bossing, Sparse eyebrow, Wide mouth, Smooth philtrum... OMIM:619989
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali... OMIM:228300
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Decreased libido, Joint stiffness, Splenomegaly, Hepatocellular carcinoma, ... ORPHA:465508
Prader-Willi Syndrome
Delayed puberty, Kyphosis, Small scrotum, Adrenal insufficiency, Decreased response to growth hor... OMIM:176270
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Premature Ovarian Failure 18
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Elevated circulat... OMIM:619203
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Shwachman-Diamond Syndrome
Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Chro... ORPHA:811
Fryns-Smeets-Thiry Syndrome
Thick lower lip vermilion, Short philtrum, Narrow nasal bridge, Cachexia, Scoliosis, Everted lowe... ORPHA:2058
Ring Chromosome 10 Syndrome
Thin vermilion border, Cachexia, Pectus excavatum, Frontal bossing, Micrognathia, Long philtrum, ... ORPHA:1438
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Wrist swelling, Metacarpal osteolysis, Abnormality of the wrist, Carpal osteolysis, Cachexia, Lim... ORPHA:2774
Intellectual Developmental Disorder, Autosomal Dominant 65
Turricephaly, Short philtrum, Anteverted nares, Short foot, Low posterior hairline, Prominent met... OMIM:619320
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Shor... OMIM:616435
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy,... ORPHA:83469
Glycogen Storage Disease Vi
Hypoglycemia, Hepatomegaly OMIM:232700
Proteus Syndrome
Irregular hyperpigmentation, Bronchogenic cyst, Abnormal form of the vertebral bodies, Cachexia, ... ORPHA:744
Osteogenesis Imperfecta
Reduced bone mineral density, Prominent occiput, Dislocated radial head, Abnormal form of the ver... ORPHA:666
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Reduced bone mineral density, Elevated circulating hepatic transaminase... OMIM:613658
Myopathy, Myofibrillar, 8
Spinal rigidity, Recurrent lower respiratory tract infections, Joint contracture of the 5th finge... OMIM:617258
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Osteopenia, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepat... ORPHA:369
Lenz-Majewski Hyperostotic Dwarfism
Relative macrocephaly, Microcephaly, Sparse hair, Joint hypermobility, Hypospadias, Elbow flexion... OMIM:151050
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Thrombocytopenia, Agenesis of corpus callosum OMIM:166990
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, External genital hypoplasia, Chromosome breakage, Neonatal death, Absen... OMIM:613390
Nijmegen Breakage Syndrome
Retrognathia, Cachexia, Microcephaly, Abnormal hair morphology, Cleft palate, Recurrent pneumonia... ORPHA:647
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Widely spaced teeth, Malar flattening, Dental malocclusi... OMIM:616108
Even-Plus Syndrome
Brachycephaly, Short nose, Dysplastic corpus callosum, Highly arched eyebrow, Bifid nasal tip, Hi... OMIM:616854
Wolf-Hirschhorn Syndrome
Abnormality of the gallbladder, Abnormal form of the vertebral bodies, Highly arched eyebrow, Low... ORPHA:280
N Syndrome
Abnormality of chromosome stability OMIM:310465
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Basal ganglia ...