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 tooth bud stage Atrtm1b(KOMP)Wtsi HOM   E12.5 0.00
embryonic lethality prior to organogenesis Atrtm1b(KOMP)Wtsi HOM   E9.5 0.00
preweaning lethality, complete penetrance Atrtm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased circulating glucose level Atrtm1b(KOMP)Wtsi HET Early adult 4.99×10-06
increased heart weight Atrtm1b(KOMP)Wtsi HET Early adult 3.16×10-09
increased startle reflex Atrtm1b(KOMP)Wtsi HET   Early adult 2.32×10-05
abnormal spinal cord morphology Atrtm1b(KOMP)Wtsi HET Early adult 0.00

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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
vas deferens 4.03% (15 of 372)
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 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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

Auditory Brain Stem Response

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

8 Images

Electroretinography

Rod waveform (pdf format)

4 Images

Electroretinography

Cone 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
Warburg Micro Syndrome 1
Micrognathia, Perisylvian polymicrogyria, Hypertrichosis, Failure to thrive, Kyphoscoliosis, Oste... OMIM:600118
Mental Retardation, Buenos Aires Type
Carious teeth, Hypospadias, Partial agenesis of the corpus callosum, Pectus excavatum, Prominent ... OMIM:249630
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypospadias, Sparse eyelashes, Patent ductus arteriosus, Thin corpus callosum, Aplastic/hypoplast... OMIM:619293
Pycnodysostosis
Carious teeth, Decreased serum insulin-like growth factor 1, Midface retrusion, Obtuse angle of m... ORPHA:763
Mcdonough Syndrome
Underdeveloped nasal alae, Cachexia, Micrognathia, Pectus excavatum, Prominent nose, Open bite, A... ORPHA:2471
Robinow Syndrome, Autosomal Dominant 2
Short nose, Micropenis, Thin upper lip vermilion, Anteverted nares, Triangular mouth, Umbilical h... OMIM:616331
Cerebrooculofacioskeletal Syndrome 1
Micrognathia, Hirsutism, Long philtrum, Failure to thrive, Kyphoscoliosis, Osteoporosis, Thin ver... OMIM:214150
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Midface retrusion, Failure to thrive, Kyphoscoliosis, Osteoporosis, Malar flattenin... OMIM:614727
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian neoplasm, Low anterior hairline, Failure to thrive, Anemia, Prominen... OMIM:617883
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Hepatomegaly, Micrognathia, High palate, Low anterior hairline, Failure to thrive, Trigonocephaly... ORPHA:329178
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy, Diabetes mellitus OMIM:602475
Transaldolase Deficiency
Patent ductus arteriosus, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Depressed nasal bridge,... OMIM:606003
Alpha-Mannosidosis
Widely spaced teeth, Hepatomegaly, Type II diabetes mellitus, Depressed nasal bridge, Open bite, ... ORPHA:61
Lig4 Syndrome
Abnormality of bone marrow cell morphology, Leukocytosis, Hepatomegaly, Micrognathia, Type II dia... ORPHA:99812
3Q13 Microdeletion Syndrome
Long philtrum, Wide nasal bridge, Anteverted nares, Abnormality of the fontanelles or cranial sut... ORPHA:1621
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Smooth philtrum, Hip contracture, Global brain atrophy, Bulbous nose, Thin upper lip vermilion, C... OMIM:616801
Microcephaly 16, Primary, Autosomal Recessive
Micrognathia, Simplified gyral pattern, Knee flexion contracture, Decreased body weight, Open mou... OMIM:616681
Forsythe-Wakeling Syndrome
Osteoporosis, Prominent nasal bridge, Frontal bossing, Thrombocytopenia, Decreased body weight, M... OMIM:613606
Camptodactyly Syndrome, Guadalajara Type 1
Abnormal form of the vertebral bodies, Short nose, Cubitus valgus, Camptodactyly of finger, Short... ORPHA:1327
Renpenning Syndrome
Hypospadias, Prominent nose, Cachexia, Pectus excavatum, Cleft palate, Thin eyebrow, Macrodontia,... ORPHA:3242
Seckel Syndrome 1
Hypospadias, Small anterior fontanelle, Cleft palate, 11 pairs of ribs, Pancytopenia, Elbow flexi... OMIM:210600
Ethanolaminosis
Cardiomegaly OMIM:227150
Bloom Syndrome
Decreased fertility in females, Prominent nose, Spotty hypopigmentation, Chromosome breakage, Typ... OMIM:210900
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypospadias, Insulin-resistant diabetes mellitus, Micropenis, Premature ovarian insufficiency, Ab... ORPHA:2959
Bone Marrow Failure Syndrome 3
Reduced bone mineral density, Hyperkeratosis, Pancytopenia, Sparse hair, Micrognathia, Hypodontia... OMIM:617052
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Failure to thrive, Nail dystrophy, Osteoporosis, Bone marrow hypocellularity, Prematu... OMIM:613989
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Micrognathia, Depressed nasal bridge, Thin vermilion border, Arthrogryposis multiplex congenita, ... OMIM:618766
Hallermann-Streiff Syndrome
Sparse eyelashes, Malar flattening, Sparse and thin eyebrow, Recurrent respiratory infections, Sp... OMIM:234100
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cleft palate, Pierre-Robin sequence, Abnormality of the knee, Short nose, Micropenis, Sparse hair... ORPHA:251028
Moynahan Syndrome
Cachexia, Alopecia, Hypogonadism, Hyperkeratosis, Sparse hair, Microcephaly ORPHA:2574
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Midface retrusion, Hepatitis, Splenomegaly, Low hanging columella, Hypersplenism, Limited elbow e... OMIM:613385
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Rubinstein-Taybi Syndrome 2
Carious teeth, Prominent nose, Micrognathia, Convex nasal ridge, Hirsutism, High palate, Long eye... OMIM:613684
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Micrognathia, Brachycephaly, Long philtrum, Short nose, Long eyelashes, Wide nasal... OMIM:618577
Wt Limb-Blood Syndrome
Micrognathia, Hypoplastic anemia, Leukemia, Short thumb, Irregular hyperpigmentation, Absent thum... OMIM:194350
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hand tremor, ... ORPHA:79299
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Hajdu-Cheney Syndrome
Hypospadias, Short nail, Hirsutism, Foot acroosteolysis, Patent ductus arteriosus, Pathologic fra... OMIM:102500
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Pectus excavatum, Abnormal vertebral morphology, Delayed epiphyseal ossification, Wide nasal brid... ORPHA:166024
Osteogenesis Imperfecta, Type Xii
Brachyturricephaly, Micrognathia, High palate, Depressed nasal bridge, Osteoporosis, Malar flatte... OMIM:613849
Prieto X-Linked Mental Retardation Syndrome
Prominent nose, Patellar subluxation, Osteoporosis, 11 pairs of ribs, Retrognathia, Cerebral atro... OMIM:309610
X-Linked Intellectual Disability, Cabezas Type
Cubitus valgus, Abnormal hair pattern, Camptodactyly of finger, Prominent nose, High palate, Open... ORPHA:85293
Hall-Riggs Mental Retardation Syndrome
Thick lower lip vermilion, Prominent nose, Hypoplasia of the primary teeth, Depressed nasal bridg... OMIM:234250
Aredyld Syndrome
Hepatomegaly, Cachexia, Smooth philtrum, Type II diabetes mellitus, Mandibular prognathia, Sparse... ORPHA:1133
Immunodeficiency 54
Chromosome breakage, Hepatomegaly, Adrenal insufficiency, Lymphadenopathy, Failure to thrive, Hyp... OMIM:609981
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Smooth philtrum, Epiphyseal stippling, Failure to thrive, Delayed closure of the an... ORPHA:251009
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Paten... OMIM:614576
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Prominent nose, Abnormal number of incisors, Patellar subluxation, Osteoporosis, Retrognathia, Ce... ORPHA:2958
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Hajdu-Cheney Syndrome
Hypospadias, Cleft palate, Patent ductus arteriosus, Splenomegaly, Absent frontal sinuses, Abnorm... ORPHA:955
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Mccune-Albright Syndrome
Increased serum testosterone level, Goiter, Fibrous dysplasia of the bones, Increased circulating... ORPHA:562
Takenouchi-Kosaki Syndrome
Hypospadias, Smooth philtrum, Thrombocytopenia, Patent ductus arteriosus, Bulbous nose, Cerebella... OMIM:616737
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Osteoporosis, Thin nail, Absent eyelashes, Absent eyebrow, Conical tooth, Male hy... OMIM:618625
Pycnodysostosis
Carious teeth, Spondylolysis, Micrognathia, Delayed eruption of permanent teeth, Prominent nose, ... OMIM:265800
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Hepatomegaly, Sandwich appearance of vertebral bodies, Failure to thrive, Osteopet... OMIM:259700
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Convex nasal ridge, Elevated hepatic transaminase, Cerebral calcification, Splenome... OMIM:610333
Lowry-Maclean Syndrome
Hypospadias, Small anterior fontanelle, Cleft palate, Short nose, Aplasia/Hypoplasia of the corpu... ORPHA:2409
Acrodysostosis 1 With Or Without Hormone Resistance
Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Elevated circulating thyroid-s... OMIM:101800
Mulibrey Nanism
Hepatomegaly, Pigmentary retinopathy, Hypodontia, Depressed nasal bridge, Hypoplastic frontal sin... OMIM:253250
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Thick lower lip vermilion, Micrognathia, Bifid scrotum, Wide mouth, Malar flattening, Wide nasal ... ORPHA:85321
Cardiofaciocutaneous Syndrome 1
Hyperpigmentation of the skin, Short nose, Cubitus valgus, Splenomegaly, Bulbous nose, Aplasia/Hy... OMIM:115150
Baraitser-Winter Syndrome 1
Short nose, Patent ductus arteriosus, Micropenis, Thin upper lip vermilion, Anteverted nares, Low... OMIM:243310
Potocki-Lupski Syndrome
Prominent nasal tip, Micrognathia, Smooth philtrum, High palate, Wide mouth, Small for gestationa... OMIM:610883
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Wide nose, Osteoporosis, Delayed puberty, Primary amenorrhea, Shor... OMIM:616033
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Christianson Syndrome
Cachexia, Pectus excavatum, Mandibular prognathia, Arthrogryposis multiplex congenita, Abnormalit... ORPHA:85278
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Smooth philtrum, Hip contracture, Enlarged naris, Thin upper lip vermilion, Anteverted nares, Elb... ORPHA:371364
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis, ... OMIM:617872
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomyopathy OMIM:609016
Cranioectodermal Dysplasia
Pectus excavatum, Hypodontia, Microdontia, Rhizomelia, Craniosynostosis, Osteoporosis, Abnormal d... ORPHA:1515
19Q13.11 Microdeletion Syndrome
Hypospadias, Underdeveloped nasal alae, Cachexia, Fine hair, Bifid scrotum, Wide mouth, Failure t... ORPHA:217346
Shashi-Pena Syndrome
Highly arched eyebrow, Broad nasal tip, Osteoporosis, Kyphosis, Macrocephaly, Retrognathia, Scoli... OMIM:617190
Flynn-Aird Syndrome
Increased bone density with cystic changes, Carious teeth, Alopecia of scalp, Kyphoscoliosis, Ost... OMIM:136300
Zimmermann-Laband Syndrome
Cleft palate, Generalized hyperpigmentation, Abnormal external genitalia, Splenomegaly, Anterior ... ORPHA:3473
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Short philtrum, Cloverleaf skull, Large fontanelles, Rhizomelia, Platyspondyly, Pla... ORPHA:93267
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Agenesis of corpus callosum, Metopic synostosis, Hirsutism, Umbilical hernia, Trigon... OMIM:175700
Maternal Uniparental Disomy Of Chromosome X
Depressed nasal bridge, Azoospermia, Low posterior hairline, Cubitus valgus, Thin vermilion borde... ORPHA:261519
Van Maldergem Syndrome 2
Hypospadias, Bifid scrotum, Malar flattening, Micropenis, Short fourth metatarsal, Hypoplasia of ... OMIM:615546
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Wormian bones, Frontal bossing, Microcephaly, Short distal phalanx of finger, Joint... ORPHA:2787
Mcdonough Syndrome
Hypoplastic toenails, Prominent nose, Micrognathia, Pectus excavatum, Short philtrum, Mandibular ... OMIM:248950
Flynn-Aird Syndrome
Carious teeth, Bone cyst, Cachexia, Type II diabetes mellitus, Alopecia, Primary adrenal insuffic... ORPHA:2047
Microcephaly 13, Primary, Autosomal Recessive
Partial agenesis of the corpus callosum, Micrognathia, Prominent nose, Small hand, Simplified gyr... OMIM:616051
Silver-Russell Syndrome
Hypospadias, Failure to thrive in infancy, Cachexia, Abnormal vagina morphology, Micrognathia, Re... ORPHA:813
Schwartz-Jampel Syndrome
Odontogenic neoplasm, Long eyelashes in irregular rows, Cleft palate, Hip contracture, Increased ... ORPHA:800
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy, Bone marrow hypocellularity, Cirrhosis, Nail dysplasia, Retic... OMIM:613987
Tetrasomy 12P
Cachexia, Long philtrum, Short nose, Thick upper lip vermilion, Delayed eruption of teeth, Abnorm... ORPHA:884
Corpus Callosum, Agenesis Of
Joint contracture of the hand, Frontal bossing, Macrocephaly, Camptodactyly, Agenesis of corpus c... OMIM:217990
Degcags Syndrome
Hypospadias, Smooth philtrum, Short nose, Patent ductus arteriosus, Hepatosplenomegaly, Pancytope... OMIM:619488
Acrootoocular Syndrome
High, narrow palate, Micrognathia, Pectus excavatum, Small for gestational age, Short finger, Fai... ORPHA:2980
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Micrognathia, Hypogonadotropic hypogonadism, Osteoporosis, Long eyelashes, Abnormality of the cer... ORPHA:48431
Fragile X Syndrome
Pectus excavatum, Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Mandibular... OMIM:300624
Non-Distal Trisomy 10Q
Micrognathia, Pectus excavatum, Depressed nasal bridge, Convex nasal ridge, High palate, Brachyce... ORPHA:1695
Auriculocondylar Syndrome 2
Mandibular condyle aplasia, Ankylosis, Micrognathia, Cleft palate, Glossoptosis, Short mandibular... OMIM:614669
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Thrombocytopenia, Mandibular prognathia, Osteopetrosis, Chronic rhinitis due to na... OMIM:259710
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Thin eyebrow, Short metatarsal, Delayed eruption of teeth, Thin upper lip vermilio... OMIM:190350
Radio-Tartaglia Syndrome
Hirsutism, Bulbous nose, Thin upper lip vermilion, Anteverted nares, Prominent nasal tip, Microgn... OMIM:619312
Pierpont Syndrome
Smooth philtrum, Long upper lip, Short nose, Malar flattening, Micropenis, Short toe, Decreased b... OMIM:602342
Dyskeratosis Congenita, Autosomal Dominant 3
Fine hair, Leukopenia, Osteoporosis, Bone marrow hypocellularity, Premature graying of hair, Alop... OMIM:613990
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Mediastinal lymphadenopathy, Bone marrow hypocellularity, Anemia, Osteopenia, Cirrhosis, Myeloid ... OMIM:614742
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Micrognathia, Pectus excavatum, Convex nasal ridge, Abnormal hair morphology, Abnormali... ORPHA:1979
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Carious teeth, Smooth philtrum, Dysplastic corpus callosum, Long nose, High anterior... ORPHA:363444
Hemifacial Atrophy, Progressive
Poliosis, Delayed eruption of teeth, Kyphosis, Short mandibular rami, Tongue atrophy, Dental malo... OMIM:141300
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Bifid scrotum, Patent ductus arteriosus, Delayed eruption of teeth, Low hanging colu... OMIM:619148
Intellectual Disability, Buenos-Aires Type
Fine hair, High palate, Open bite, Mandibular prognathia, Abnormal fingernail morphology, Wide na... ORPHA:3079
Robinow Syndrome
Midface retrusion, Short nose, Micropenis, Anteverted nares, Broad alveolar ridges, Umbilical her... ORPHA:97360
Cutis Laxa, Autosomal Recessive, Type Iib
Large fontanelles, Failure to thrive, Malar flattening, Congenital hip dislocation, Narrow nasal ... OMIM:612940
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Hypodontia, High palate, Depressed nasal bridge, Irregular vertebral endplates, Kyphoscoliosis, J... OMIM:612350
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Generalized osteosc... ORPHA:210110
Mental Retardation, Autosomal Dominant 22
Micrognathia, Smooth philtrum, Depressed nasal bridge, Thin upper lip vermilion, Agenesis of corp... OMIM:612337
Cerebellar-Facial-Dental Syndrome
Cerebellar hypoplasia, Anteverted nares, Sparse hair, Contractures involving the joints of the fe... ORPHA:444072
Neu-Laxova Syndrome
Cleft palate, Abnormal hair morphology, Rickets, Polymicrogyria, Cerebellar hypoplasia, Pterygium... ORPHA:2671
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Short 5th toe, Short 2nd toe, Failure to thrive, Short 4th toe, Prominent nasal bridge, Short 5th... OMIM:619060
6Q25 Microdeletion Syndrome
Plagiocephaly, Micrognathia, Cleft palate, High palate, Long philtrum, Failure to thrive, Externa... ORPHA:251056
Hamamy Syndrome
Hypoparathyroidism, Micrognathia, Pectus excavatum, Smooth philtrum, High palate, Brachycephaly, ... OMIM:611174
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Dystrophic fingernails, Generalized hyperpigmentation, Dystrophic toenail... ORPHA:2930
Acquired Idiopathic Sideroblastic Anemia
Neutropenia, Normochromic anemia, Splenomegaly, Pancytopenia, Abnormal fingernail morphology, Inc... ORPHA:75564
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse eyelashes, Abnormal dental enamel morphology, Delayed eruption of teeth, Hypoplasia of the... OMIM:257850
Lichtenstein Syndrome
Carious teeth, C1-C2 subluxation, Pectus excavatum, Neutropenia, Hirsutism, Increased susceptibil... OMIM:246550
Lissencephaly, X-Linked, 2
Micrognathia, High palate, Long upper lip, Long philtrum, Gliosis, Prominent nasal bridge, Wide n... OMIM:300215
Imagawa-Matsumoto Syndrome
Hypertrichosis, Umbilical hernia, Mandibular prognathia, Wide nasal ridge, Melanocytic nevus, Mac... OMIM:618786
Cornelia De Lange Syndrome 5
Cleft palate, Hirsutism, Micropenis, Limited elbow extension, Anteverted nares, Highly arched eye... OMIM:300882
Bangstad Syndrome
Convex nasal ridge, Goiter, Small for gestational age, Insulin-resistant diabetes mellitus, Cereb... OMIM:210740
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Osteoporosis, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis OMIM:618234
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Harrod Syndrome
Hypospadias, Hypopigmented skin patches, High palate, Long nose, Failure to thrive, Kyphosis, Mic... ORPHA:2115
Muenke Syndrome
Plagiocephaly, Short middle phalanx of finger, Short middle phalanx of toe, High palate, Capitate... OMIM:602849
Van Maldergem Syndrome 1
Hypospadias, Malar flattening, Short fourth metatarsal, Hypoplasia of the maxilla, Short 4th meta... OMIM:601390
7Q11.23 Microduplication Syndrome
Hypospadias, Cubitus valgus, Patent ductus arteriosus, Cerebellar hypoplasia, Thin upper lip verm... ORPHA:96121
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Robinow Syndrome, Autosomal Dominant 3
Cleft palate, Short nose, Patent ductus arteriosus, Cleft lip, Micropenis, Camptodactyly, Antever... OMIM:616894
Fanconi Anemia, Complementation Group D2
Neutropenia, Leukemia, Patent ductus arteriosus, Micropenis, Reticulocytopenia, Pancytopenia, Ann... OMIM:227646
Noonan Syndrome 4
Blue irides, Pectus excavatum, Depressed nasal bridge, Wide mouth, Cubitus valgus, Sparse eyebrow... OMIM:610733
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Drooling, Lissencephaly, Pachygyria, Cerebellar hypoplasia, Hypoplasia... OMIM:610031
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Hirsutism, Thrombocytopenia, Global brain atrophy, Micropenis, Cerebellar hypoplasia... OMIM:301056
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Long philtrum, Flared nostrils, Wide nasal bridge, Frontal bossing, Ba... OMIM:312170
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Prominent nose, Simplified gyral pattern, Absent septum pellucidum, Hypoplasia of the brainstem, ... OMIM:618492
Shprintzen-Goldberg Craniosynostosis Syndrome
Brachyturricephaly, Joint contracture of the hand, Genu recurvatum, Camptodactyly, Anteverted nar... OMIM:182212
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Micrognathia, Small for gestational age, Low anterior hairline, Failure to thrive, Osteoporosis, ... ORPHA:73272
Desmosterolosis
Cleft palate, Short nose, Patent ductus arteriosus, Splenomegaly, Abnormality of the nose, Polymi... ORPHA:35107
Nestor-Guillermo Progeria Syndrome
Sparse eyelashes, Pathologic fracture, Mandibular osteolysis, Sparse and thin eyebrow, Limited el... OMIM:614008
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Cleft palate, Dystrophic toenail, Abnormal dental enamel morphology, De... ORPHA:1452
Fragile X Syndrome
Sinusitis, Macroorchidism, Folate-dependent fragile site at Xq28, Mandibular prognathia, Frontal ... ORPHA:908
Hao-Fountain Syndrome
Large fontanelles, Trigonocephaly, Premature adrenarche, Micropenis, Delayed cranial suture closu... OMIM:616863
Fanconi Anemia, Complementation Group C
Neutropenia, Small for gestational age, Hypergonadotropic hypogonadism, Leukemia, Hyperpigmentati... OMIM:227645
Leishmaniasis
Hepatomegaly, Abnormal oral cavity morphology, Leukopenia, Elevated hepatic transaminase, Lymphad... ORPHA:507
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Abnormality of chromosome stability, Microcephaly OMIM:600546
Prader-Willi Syndrome
Hypoplastic labia minora, Carious teeth, Adrenal insufficiency, Generalized hypopigmentation, Mic... OMIM:176270
Cantu Syndrome
Thick lower lip vermilion, Depressed nasal bridge, Long philtrum, Thick upper lip vermilion, Oste... OMIM:239850
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Failure to thrive, Osteoporosi... ORPHA:2169
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Micrognathia, Large fontanelles, Median cleft lip and palate, Gingival fib... ORPHA:1832
Microcephaly 17, Primary, Autosomal Recessive
Microlissencephaly, Failure to thrive, Simplified gyral pattern, Hypoplasia of the brainstem, Bul... OMIM:617090
Intellectual Disability-Strabismus Syndrome
Hypospadias, Decreased serum insulin-like growth factor 1, Short nose, Joint contracture of the h... ORPHA:363528
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Osteoporosis, Delayed puberty, Osteopenia OMIM:615270
Marden-Walker Syndrome
Hypospadias, Cleft palate, Joint contracture of the hand, Micropenis, Cerebellar hypoplasia, Camp... OMIM:248700
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Micrognathia, High palate, Gingival overgrowth, Arthrogryposis ... OMIM:618186
Cri-Du-Chat Syndrome
Hypospadias, Thick lower lip vermilion, High palate, Short philtrum, Small for gestational age, S... OMIM:123450
Short Stature-Wormian Bones-Dextrocardia Syndrome
Micrognathia, High palate, Abnormality of the philtrum, Midshaft hypospadias, Wormian bones, Pate... ORPHA:2863
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Short nose, Patent ductus arteriosus, Cerebellar hypoplasia, Cerebral atrophy, Anteverted nares, ... OMIM:615398
Sim1-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Premature adrenarche, Micropenis, Thin upper lip vermilion, Recurrent r... ORPHA:398079
Fanconi Anemia, Complementation Group I
Neutropenia, Colpocephaly, Decreased response to growth hormone stimulation test, Optic nerve hyp... OMIM:609053
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short nose, Patchy distortion of vertebrae, Short columella, Vertebral cl... OMIM:155050
Pierpont Syndrome
Abnormal cortical gyration, Widely spaced teeth, Smooth philtrum, Small for gestational age, Shor... ORPHA:487825
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Pneumonia, Cerebral calcification, Limb undergr... ORPHA:1855
Osteopathia Striata With Cranial Sclerosis
Cleft palate, Pierre-Robin sequence, Joint contracture of the hand, Patent ductus arteriosus, Cam... OMIM:300373
Microcephalic Primordial Dwarfism, Montreal Type
Carious teeth, Abnormal palate morphology, Micrognathia, Convex nasal ridge, Alopecia of scalp, O... ORPHA:2617
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neoplasm of the lung, Neutropenia, Hepatocellular carcinoma, Elevat... ORPHA:158057
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Microlissencephaly, Wide nose, Wide nasal bridge, Primary microcepha... ORPHA:89844
Chromosome 16Q22 Deletion Syndrome
Hypospadias, Highly arched eyebrow, Micrognathia, High palate, Depressed nasal bridge, Small for ... OMIM:614541
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability OMIM:175800
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Broad eyebrow, Smooth philtrum, Broad nasal tip, High palate, Dental crowding, Thin upper lip ver... OMIM:612948
Lig4 Syndrome
Prominent nose, Amenorrhea, Failure to thrive, Micropenis, Hypothyroidism, Pancytopenia, Thromboc... OMIM:606593
Desbuquois Dysplasia 1
Smooth philtrum, Genu varum, Short metatarsal, Short nose, Malar flattening, Short 1st metacarpal... OMIM:251450
Isolated Glycerol Kinase Deficiency
Osteoporosis, Hyperlordosis, Cryptorchidism, Scoliosis, Adrenocortical hypoplasia ORPHA:408
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Micrognathia, Osteopetrosis, Anemia, Decreased osteoclast count, Stillbirth, Spleno... OMIM:259720
Gaucher Disease Type 1
Hepatomegaly, Gingival bleeding, Leukopenia, Biliary tract obstruction, Anemia, Osteopenia, Patho... ORPHA:77259
Cockayne Syndrome B
Carious teeth, Abnormal hair morphology, Splenomegaly, Micropenis, Cerebral atrophy, Basal gangli... OMIM:133540
Osteogenesis Imperfecta, Type Xiii
Long philtrum, Kyphoscoliosis, Osteoporosis, Long eyelashes, Platyspondyly, Wormian bones, Thin v... OMIM:614856
Urban-Rogers-Meyer Syndrome
Micrognathia, Flexion contracture of toe, Abnormality of the philtrum, Osteoporosis, Prominent na... ORPHA:3409
Emanuel Syndrome
Cleft palate, Broad jaw, Patent ductus arteriosus, Delayed eruption of teeth, Low hanging columel... ORPHA:96170
Autism Spectrum Disorder Due To Auts2 Deficiency
Prominent nasal tip, Micrognathia, Highly arched eyebrow, Short philtrum, Small for gestational a... ORPHA:352490
Normosmic Congenital Hypogonadotropic Hypogonadism
Secondary amenorrhea, Cleft palate, Micropenis, Camptodactyly, Breast hypoplasia, Depressed nasal... ORPHA:432
Ventriculomegaly And Arthrogryposis
Micrognathia, Arthrogryposis multiplex congenita, Cerebellar hypoplasia, Ulnar deviation of the w... OMIM:619501
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Basal ganglia calcification, Pancytopenia, Abnormal periventricular white matte... ORPHA:2785
Apert Syndrome
Brachyturricephaly, Cleft palate, Malar flattening, Delayed eruption of teeth, Delayed cranial su... OMIM:101200
Fanconi Anemia, Complementation Group A
Neutropenia, Small for gestational age, Leukemia, Abnormality of skin pigmentation, Anemia, Absen... OMIM:227650
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Failure to thrive in infancy, Relative macrocephaly, Midface retrusion, Neutropenia ... ORPHA:228426
Three M Syndrome 2
Prominent nasal tip, High palate, Depressed nasal bridge, Small for gestational age, Long philtru... OMIM:612921
Marshall-Smith Syndrome
Short nose, Malar flattening, Patent ductus arteriosus, Atlantoaxial dislocation, Cerebral atroph... OMIM:602535
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Megaloblastic anemia, Cerebellar hypoplasia, Cerebral atrophy, Pancytopenia, Thromb... OMIM:613839
Potocki-Shaffer syndrome
Delayed cranial suture closure, Parietal foramina, Abnormality of the male genitalia DECIPHER:34
Rothmund-Thomson Syndrome Type 2
Carious teeth, Cleft palate, Neutropenia, Genu varum, Leukemia, Hyperpigmentation of the skin, Ab... ORPHA:221016
Xfe Progeroid Syndrome
Cachexia, Convex nasal ridge, Enamel hypoplasia, Elevated hepatic transaminase, Scoliosis, Microc... OMIM:610965
Mulibrey Nanism
Hepatomegaly, Cachexia, Macrocephaly, Wide nasal bridge ORPHA:2576
Fanconi Anemia, Complementation Group E
Neutropenia, Small for gestational age, Leukemia, Abnormality of skin pigmentation, Anemia, Absen... OMIM:600901
Chondroectodermal Dysplasia With Night Blindness
Micrognathia, Abnormal hair morphology, Abnormality of the knee, Fractures of the long bones, Nai... ORPHA:319195
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic a... OMIM:300635
4Q21 Microdeletion Syndrome
Depressed nasal bridge, Short philtrum, Large fontanelles, Small hand, Long eyelashes, Thin vermi... ORPHA:238750
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Long nose, Patent ductus arteriosus, Low hanging columella, Dental malocclusion, H... OMIM:613680
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Weight loss, Osteoporosis... ORPHA:98850
Ehlers-Danlos Syndrome, Classic-Like, 2
Micrognathia, High palate, Knee dislocation, Thin eyebrow, Low posterior hairline, Osteoporosis, ... OMIM:618000
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse pubic hair, Agonadism, Thin upper lip vermilion, Contracture of the proximal interphalange... ORPHA:2232
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Pancyt... OMIM:618963
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, High palate, Depressed nasal bridge, Neonatal death, Art... ORPHA:85212
Jaberi-Elahi Syndrome
Sparse eyelashes, Depressed nasal bridge, Failure to thrive, Short nose, Sparse eyebrow, Kyphosis... OMIM:617988
Chromosome 3Pter-P25 Deletion Syndrome
Low hanging columella, Anteverted nares, Highly arched eyebrow, Micrognathia, High palate, Depres... OMIM:613792
Primary Myelofibrosis
Abnormality of bone marrow cell morphology, Leukocytosis, Hepatomegaly, Thrombocytosis, Cachexia,... ORPHA:824
Larsen-Like Syndrome
Cleft palate, Absent nasal bridge, Brachycephaly, Kyphoscoliosis, Malar flattening, Joint disloca... OMIM:608545
Cofs Syndrome
Micrognathia, Abnormality of retinal pigmentation, Prominent metopic ridge, Arthrogryposis multip... ORPHA:1466
Bowen Syndrome Of Multiple Malformations
Failure to thrive, Micrognathia, Agenesis of corpus callosum, Hypospadias OMIM:211200
Premature Ovarian Failure 2B
Osteoporosis, Primary amenorrhea, Premature ovarian insufficiency, Abnormality of the dentition, ... OMIM:300604
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Dandy-Walker malformation, Bicoronal synostosis, Low anterior hairline, Brachycepha... OMIM:618736
Mu-Heavy Chain Disease
Abnormality of bone marrow cell morphology, Hepatomegaly, Abnormal B cell count, Lymphadenopathy,... ORPHA:100024
Microcephaly 5, Primary, Autosomal Recessive
Highly arched eyebrow, Small cerebral cortex, Simplified gyral pattern, Cerebellar hypoplasia, Hy... OMIM:608716
Rothmund-Thomson Syndrome
Carious teeth, Sparse eyelashes, Neutropenia, Leukemia, Aplasia/Hypoplasia of the radius, Abnorma... ORPHA:2909
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Short nose, Malar flattening, Patent ductus arteriosus, Micropenis, Turricephaly, Ce... ORPHA:171839
Alpha-Mannosidosis, Infantile Form
Subcortical cerebral atrophy, Hepatosplenomegaly, Abnormality of the sphenoid sinus, Pancytopenia... ORPHA:309282
Amegakaryocytic Thrombocytopenia, Congenital
Amegakaryocytic thrombocytopenia, Cerebellar vermis hypoplasia, Megakaryocytopenia, Pancytopenia,... OMIM:604498
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss, Hypogonadotropic hypogonadism, Anemia, Leukoencephalopathy, Abnormal cereb... ORPHA:298
Fanconi Anemia, Complementation Group F
Leukopenia, Pneumonia, Failure to thrive, Decreased response to growth hormone stimulation test, ... OMIM:603467
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Hypospadias, Smooth philtrum, Dorsal hirsutism, Cerebellar hypoplasia, Thin upper lip vermilion, ... OMIM:300998
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Smooth philtrum, Thrombocytopenia, Patent ductus arteriosus, Bulbous nose, Thin uppe... ORPHA:487796
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Fine hair, Hypoplasia of the pons, Taurodonti... OMIM:616202
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, Pectus excavatum, High palate, Failure to thrive, Kyphoscoliosis, Supernumerary too... OMIM:264475
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Neonatal Lupus Erythematosus
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormality of th... ORPHA:398124
Warburg Micro Syndrome 3
Hypoplastic labia minora, Micrognathia, Hypertrichosis, Low anterior hairline, Brachycephaly, Kyp... OMIM:614222
Ataxia-Telangiectasia
Multiple cafe-au-lait spots, Type II diabetes mellitus, Abnormality of chromosome stability, Fail... ORPHA:100
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Choroid plexus calcification, Thickened calvaria,... OMIM:103580
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Plagiocephaly, Pectus excavatum, Cleft palate, High palate, Abnormal globus pallidus morphology, ... OMIM:618603
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Azoospermia, Amenorrhea, Hypogonadotr... OMIM:235200
Momo Syndrome
Thick lower lip vermilion, Smooth philtrum, High palate, Brachycephaly, Long philtrum, Congenital... ORPHA:2563
Lissencephaly 3
Lissencephaly, Pachygyria, Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Polymicrogy... OMIM:611603
Rubinstein-Taybi Syndrome 1
Hypospadias, Hirsutism, Leukemia, Patent ductus arteriosus, Abnormality of the nasal septum, Low ... OMIM:180849
Cataract-Intellectual Disability-Hypogonadism Syndrome
Micrognathia, High palate, Depressed nasal bridge, Short philtrum, Brachycephaly, Hypogonadotropi... ORPHA:1387
Turnpenny-Fry Syndrome
Malar flattening, Patent ductus arteriosus, Thin upper lip vermilion, Recurrent respiratory infec... OMIM:618371
Lessel-Kreienkamp Syndrome
Plagiocephaly, Wide nasal bridge, Patent ductus arteriosus, Frontal bossing, Wide cranial sutures... OMIM:619149
Rothmund-Thomson Syndrome Type 1
Carious teeth, Genu varum, Neutropenia, Leukemia, Hyperpigmentation of the skin, Abnormal dental ... ORPHA:221008
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Rec... OMIM:308240
Rothmund-Thomson Syndrome, Type 2
Sparse eyelashes, Short nose, Delayed eruption of teeth, Sparse hair, Premature graying of hair, ... OMIM:268400
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Camptodactyly, Anteverted nares, Delayed cranial suture closure, Broad ... OMIM:249420
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Thickened calvaria, Shortening of all distal phalanges of the fingers... OMIM:301900
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Lissencephaly, Hypoplasia of the brainstem, Polymicrogyria, Hypoplasia of the corpus callosum, Co... OMIM:614039
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Fine hair, Underdeveloped nasal alae, Depressed nasal bridge, Brachycephaly, Agenesis of cerebell... ORPHA:228390
Bohring-Opitz Syndrome
Cleft palate, Hirsutism, Short toe, Camptodactyly, Broad alveolar ridges, Supernumerary nipple, M... OMIM:605039
Craniofrontonasal Dysplasia
Hypospadias, Congenital pseudoarthrosis of the clavicle, Camptodactyly of finger, Woolly hair, Lo... ORPHA:1520
Chromosome 5P13 Duplication Syndrome
High palate, Short philtrum, Small for gestational age, Brachycephaly, Craniosynostosis, Wide nas... OMIM:613174
Craniosynostosis 6
Plagiocephaly, Dandy-Walker malformation, Low anterior hairline, Brachycephaly, Craniosynostosis,... OMIM:616602
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Hypospadias, Abnormal hair pattern, Microcephaly, Generalized hirsutism, Scoliosis, Agenesis of c... ORPHA:2508
Mental Retardation, Autosomal Dominant 26
Prominent nasal tip, Highly arched eyebrow, Wide mouth, Small for gestational age, Brachycephaly,... OMIM:615834
Dyskeratosis Congenita
Carious teeth, Abnormal morphology of female internal genitalia, Palmoplantar keratoderma, Spleno... ORPHA:1775
Proteus Syndrome
Carious teeth, Ovarian neoplasm, Thymus hyperplasia, Sirenomelia, Generalized hyperpigmentation, ... ORPHA:744
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Prader-Willi-Like Syndrome
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Anterior pituitary hyp... ORPHA:398073
Premature Aging Syndrome, Penttinen Type
Micrognathia, Narrow nose, Midface retrusion, Thin vermilion border, Wormian bones, Delayed erupt... OMIM:601812
Phelan-Mcdermid Syndrome
Hypoplastic toenails, Widely spaced teeth, Micrognathia, High palate, Abnormal periventricular wh... OMIM:606232
Dyskeratosis Congenita, X-Linked
Hypospadias, Carious teeth, Sparse eyelashes, Hyperpigmentation of the skin, Cerebellar hypoplasi... OMIM:305000
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Ankle clonus, Abnormal ce... OMIM:159550
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly, Obesity OMIM:264010
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia OMIM:306000
Prader-Willi Syndrome
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... ORPHA:739
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Hypopigmentation of the skin, Kyphosis, Albinism, Hypopigmentation o... ORPHA:2786
Gaucher Disease, Type Iii
Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia, Decreased body weight OMIM:231000
Martin-Probst Syndrome
Thick lower lip vermilion, Micrognathia, Bifid scrotum, Hypoplastic nipples, Wide mouth, Chordee,... OMIM:300519
Cockayne Syndrome A
Carious teeth, Thymic hormone decreased, Retinal pigment epithelial mottling, Splenomegaly, Micro... OMIM:216400
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pectus excavatum, High palate, Short 5th metacarpal, Pierre-Robin sequence, Long philtrum, Short ... OMIM:617877
Dominant Beta-Thalassemia
Adrenal insufficiency, Hyperpigmentation of the skin, Splenomegaly, Hypersplenism, Hepatosplenome... ORPHA:231226
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints, Microcephaly, Cortical dysplasia OMIM:608278
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Failure to thrive, Bone marrow hypocellularity, Acute myelo... OMIM:605724
Diencephalic Syndrome
Cachexia, Long penis, Abnormality of the hypothalamus-pituitary axis, Everted lower lip vermilion... ORPHA:1672
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Spondyloepiphyseal Dysplasia, Nishimura Type
Cleft palate, Anterior plagiocephaly, Short nose, Abnormality of cranial sutures, Anisospondyly, ... ORPHA:163649
Shwachman-Diamond Syndrome
Carious teeth, Sinusitis, Neutropenia, Pancreatic hypoplasia, Leukemia, Delayed eruption of teeth... ORPHA:811
Ring Chromosome 10 Syndrome
Cachexia, Micrognathia, Pectus excavatum, Long philtrum, Thin vermilion border, Wide nasal bridge... ORPHA:1438
Magel2-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Micropenis, Thin upper lip vermilion, Recurrent respiratory infections,... ORPHA:398069
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Micrognathia, Cleft palate, High palate, Megalencephaly, Oligodontia, Brac... OMIM:600325
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Cleft palate, Smooth philtrum, Thrombocytopenia, Pierre-Robin sequence, Thin upper l... OMIM:611209
Warburg Micro Syndrome 4
Perisylvian polymicrogyria, Hirsutism, Low anterior hairline, Brachycephaly, Long philtrum, Promi... OMIM:615663
Ck Syndrome
Micrognathia, High palate, Slender build, Malar flattening, Abnormal cortical bone morphology, Pr... OMIM:300831
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Micrognathia, Convex nasal ridge, Osteoporosis, Kyphosis, Hypogonadism, Hepatic ste... OMIM:615381
Fanconi Anemia, Complementation Group P
Micrognathia, Anemia, Vitiligo, Hypoplasia of the radius, Short thumb, Bulbous nose, Absent thumb... OMIM:613951
Multicentric Reticulohistiocytosis
Cachexia, Arthritis, Histiocytosis ORPHA:139436
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Failure to thrive, Short finger, Brachycephaly, Micropenis, Short toe, Cryptorchidis... OMIM:610680
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... ORPHA:98754
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Spinal rigidity, Hyperlordosis, Limitation of joint mobility, Flexion contracture, Join... ORPHA:157973
Usmani-Riazuddin Syndrome, Autosomal Recessive
Pectus excavatum, High palate, Joint laxity, Agenesis of corpus callosum, Lumbar scoliosis OMIM:619548
19P13.3 Microduplication Syndrome
Underdeveloped nasal alae, Micrognathia, Unilateral cryptorchidism, Prominent nose, Cleft palate,... ORPHA:447980
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... ORPHA:177901
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Failure to thrive, Osteoporosis, Splenomegaly, Cirrhosis, Neonatal cholestatic live... ORPHA:79301
Desmosterolosis
Cleft palate, Short nose, Ambiguous genitalia, female, Joint contracture of the hand, Patent duct... OMIM:602398
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Jaundice... ORPHA:79124
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Osteoporosis, Pathologic fracture, Frontal boss... OMIM:307030
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... ORPHA:98793
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Splenomegaly, Type I diabetes mellitus, Pancytopenia, Recurrent respiratory infe... OMIM:614700
Recombinant Chromosome 8 Syndrome
Thick lower lip vermilion, Cerebral atrophy, Micrognathia, Pectus excavatum, Depressed nasal brid... OMIM:179613
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Abnormal vertebral morphology, Abnormal lung lobation, Bilat... OMIM:300514
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hirsutism, Hip contracture, Delayed eruption of teeth, Bulbous nose, Protrusio... OMIM:259600
Lissencephaly, X-Linked, 1
Pachygyria, Micropenis, Agyria, Lissencephaly, Agenesis of corpus callosum OMIM:300067
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... ORPHA:177904
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Hyperpigmentation of the skin, Splenomegaly, Diabetes mellitus, Stiff interph... ORPHA:465508
Lissencephaly 4
Simplified gyral pattern, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus callosum, Micr... OMIM:614019
Beta-Thalassemia Major
Adrenal insufficiency, Anisopoikilocytosis, Hyperpigmentation of the skin, Splenomegaly, Hyperspl... ORPHA:231214
Riboflavin Transporter Deficiency
Cachexia, Diabetes insipidus, Hypogonadism, Iris hypopigmentation, Cerebral cortical atrophy ORPHA:97229
Dyskeratosis Congenita, Autosomal Dominant 1
Carious teeth, Premature loss of teeth, Sparse hair, Interstitial pneumonitis, Ridged nail, Retic... OMIM:127550
Cleft Palate, Isolated
Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion OMIM:119540
Familial Hyperprolactinemia
Menorrhagia, Hemorrhagic ovarian cyst, Infertility, Oligomenorrhea, Amenorrhea, Osteoporosis, Ost... ORPHA:397685
Fanconi Anemia, Complementation Group L
Chromosome breakage, Cleft palate, Depressed nasal bridge, Abnormality of chromosome stability, A... OMIM:614083
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Micrognathia, Smooth philtrum, Depressed nasal bridge, Low anterior hairline, Brachy... OMIM:615761
Macs Syndrome
Thick lower lip vermilion, Irregular dentition, High palate, Eclabion, Urethral stenosis, Bronchi... OMIM:613075
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Micrognathia, Broad nasal tip, Short philtrum, Brachycephaly, Anemia, ... ORPHA:52022
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Cleft palate, Smooth philtrum, Bulbous nose, Anteverted nares, Osteoporosis, Sparse eyebrow, Shor... OMIM:309583
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cleft palate, Vertebral segmentation defect, Tooth agenesis, Supernumerary nipple, Underdeveloped... ORPHA:453504
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Cleft palate, Short nose, Multiple prenatal fractures, Short ribs, Micropenis, Cereb... OMIM:616897
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cleft palate, Vertebral segmentation defect, Tooth agenesis, Supernumerary nipple, Underdeveloped... ORPHA:352665
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominent nose, Abnormality of the hairline, Cranial asymmetry, Abnormality of the male genitalia... OMIM:614886
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Brachyturricephaly, Abnormal shape of the occiput, Brachycephaly, Malar flattening, ... OMIM:218350
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Micrognathia, Arthrogryposis multiplex congenita, Congenital hip dislocation, Kyphosis, Macroceph... OMIM:618291
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... ORPHA:477781
X-Linked Intellectual Disability, Stocco Dos Santos Type
Depressed nasal bridge, Hirsutism, Small for gestational age, Increased serum serotonin, Congenit... ORPHA:85288
Winchester Syndrome
Osteolysis involving bones of the feet, Osteolysis involving bones of the upper limbs, Gingival o... OMIM:277950
Transcobalamin Deficiency
Neutropenia, Abnormality of chromosome stability, Lymphopenia, Pancytopenia, Thrombocytopenia, Me... ORPHA:859
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pancytopenia, Leukemia, Bone marrow hypocellularity, Cirrhosis, Pulmonary fibrosis, Myeloid leuke... OMIM:614743
Wolf-Hirschhorn Syndrome
Abnormality of the vertebral column, Hypospadias, Cleft palate, Abnormal form of the vertebral bo... ORPHA:280
Acromelic Frontonasal Dysostosis
Broad nasal tip, Cleft palate, U-Shaped upper lip vermilion, Brachycephaly, Cleft upper lip, Wide... OMIM:603671
Clark-Baraitser syndrome
Thick lower lip vermilion, Macroorchidism, Broad nasal tip, Exaggerated median tongue furrow, Max... OMIM:300602
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Malar flattening, Mottled pigmentation, Dental malocclusion OMIM:616108
Intellectual Developmental Disorder, Autosomal Dominant 65
Micrognathia, Dysgenesis of the hippocampus, Thin eyebrow, Short philtrum, Long philtrum, Thick u... OMIM:619320
Griscelli Syndrome Type 2
Hepatomegaly, Partial albinism, Neutropenia, Lymphadenopathy, Splenomegaly, Iris hypopigmentation... ORPHA:79477
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Ankle flexion contracture, High palate, Hirsutism, Part... OMIM:305620
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Dandy-Walker malformation, Aplasia/Hypoplasia of the nails, Downturned corners of mouth, Bulbous ... ORPHA:262767
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Cachexia, Slender build, Abnormal cerebral white matter morphology OMIM:613662
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Micrognathia, Wrist swelling, Metacarpal osteolysis, Wide nasal bridge, Abnormality of ... ORPHA:2774
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Abnormality of the dentition, Osteoporosis, Osteopenia OMIM:615269
Short Syndrome
Underdeveloped nasal alae, Micrognathia, Hypodontia, Small for gestational age, Insulin-resistant... OMIM:269880
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Rhizomelia, Agenesis of corpus callosum OMIM:166990
Osteogenesis Imperfecta
Carious teeth, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Delayed ... ORPHA:666
Dyskeratosis Congenita, Autosomal Recessive 1
Carious teeth, Sparse eyelashes, Small nail, Hepatic fibrosis, Microdontia, Pterygium, Hyperpigme... OMIM:224230
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombo... OMIM:616050
Odontochondrodysplasia 1
Flat acetabular roof, Genu varum, Coronal cleft vertebrae, Long philtrum, Osteoporosis, Biconvex ... OMIM:184260
Fryns-Smeets-Thiry Syndrome
Thick lower lip vermilion, Cachexia, Micrognathia, Patellar aplasia, Short philtrum, Wide mouth, ... ORPHA:2058
Propionic Acidemia
Hepatomegaly, Neutropenia, Failure to thrive, Osteoporosis, Anemia, Pancreatitis, Cerebral atroph... OMIM:606054
Coffin-Lowry Syndrome
Abnormal hair morphology, Lumbar kyphosis, Hyperconvex fingernails, Anteverted nares, Decreased b... OMIM:303600
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Pneumonia, Hypoplastic hippocampus, Cerebral atrophy, In... ORPHA:85179
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, High, narrow palate, High palate, Short philtrum, Brachycephaly, Micropenis, Dolic... OMIM:615433
Zimmermann-Laband Syndrome 3
Patent ductus arteriosus, Absent distal phalanx of the 2nd toe, High palate, Absent toenail, Faci... OMIM:618658
Adenylosuccinate Lyase Deficiency
Flat occiput, Hypointensity of cerebral white matter on MRI, Smooth philtrum, Brachycephaly, Long... ORPHA:46
Momo Syndrome
Thick lower lip vermilion, Smooth philtrum, High palate, Brachycephaly, Long philtrum, Hyperconve... OMIM:157980
Lymphoproliferative Syndrome 2
Hepatomegaly, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Recurrent pneumonia, Oral ulcer,... OMIM:615122
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... ORPHA:369
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Micrognathia, High palate, Neonatal death, Arthrogryposis multiplex congenita, ... OMIM:611890
46,Xx Gonadal Dysgenesis
Abnormality of secondary sexual hair, Secondary amenorrhea, Aplasia/hypoplasia of the uterus, Str... ORPHA:243
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Choroid plexus calcification, Depressed nasal bri... OMIM:612462
Menkes Disease
Brachycephaly, Osteoporosis, Wormian bones, Hypopigmentation of the skin, Sparse hair, Microcepha... OMIM:309400
Pseudopseudohypoparathyroidism
Depressed nasal bridge, Short metatarsal, Osteoporosis, Delayed eruption of teeth, Enamel hypopla... OMIM:612463
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Low anterior hairline, Brachycephaly, Short nose, Wide nasal bridge, Respiratory tra... OMIM:218000
Sialidosis Type 2
Abnormality of bone marrow cell morphology, Hepatomegaly, Osteoporosis, Kyphosis, Splenomegaly, F... ORPHA:87876
Craniofrontonasal Syndrome
Hypospadias, Cleft palate, Congenital pseudoarthrosis of the clavicle, Fragile nails, Low posteri... OMIM:304110
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile arthritis, Thrombocytosis, Arthritis, Knee flexion contracture, Hepatosplenomegaly, Micro... OMIM:604416
Even-Plus Syndrome
Depressed nasal ridge, Highly arched eyebrow, Hypodontia, Dysplastic corpus callosum, Coronal cle... OMIM:616854
Trisomy 18
Cachexia, Abnormality of retinal pigmentation, Cleft palate, Anencephaly, Abnormal morphology of ... ORPHA:3380
Spastic Paraplegia 18, Autosomal Recessive
High palate, Hypoplasia of the corpus callosum, Scoliosis, Kyphosis OMIM:611225
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Low hanging columella, Bulbous nose, Thin corpus callosum, Cerebellar hypoplasia, Plagiocephaly, ... OMIM:619512
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Perisylvian polymicrogyria, Short philtrum, Long philtrum, Small hand, Prominent nasal bridge, Ky... OMIM:618443
Atkin-Flaitz Syndrome
Thick lower lip vermilion, Macroorchidism, Broad nasal tip, Exaggerated median tongue furrow, Max... OMIM:300431
Lissencephaly 7 With Cerebellar Hypoplasia
Micrognathia, Hirsutism, Arthrogryposis multiplex congenita, Agyria, Cerebellar hypoplasia, Short... OMIM:616342
Developmental And Epileptic Encephalopathy 88
Partial agenesis of the corpus callosum, Depressed nasal bridge, Hypoplasia of the pons, Inferior... OMIM:618959
Kleefstra Syndrome
Hypospadias, Short nose, Malar flattening, Delayed eruption of teeth, Micropenis, Pulmonary arter... ORPHA:261494
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Gingival bleeding, Leukopenia, Stomatitis, Lymphadenopathy, Weight los... ORPHA:520
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Slender build, Reduced bone mineral density, Cerebral atrophy, Pancytopenia, Portal hype... OMIM:613658
Frontonasal Dysplasia 1
Broad nasal tip, Hypoplastic frontal sinuses, Median cleft lip, Short columella, Joint contractur... OMIM:136760
Gm1 Gangliosidosis
Hirsutism, Abnormal form of the vertebral bodies, Encephalomalacia, Patent ductus arteriosus, Spl... ORPHA:354
Schwartz-Jampel Syndrome, Type 1
Long eyelashes in irregular rows, Micrognathia, Shoulder flexion contracture, Hip contracture, Fl... OMIM:255800
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Cleft palate, Bifid scrotum, Leukemia, Short nose, Malar flattening, Micropenis, Cer... OMIM:257300
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly ORPHA:171703
Coffin-Siris Syndrome
Hypospadias, Hirsutism, Prominent eyelashes, Hypoplastic fifth fingernail, Papillary thyroid carc... ORPHA:1465
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... OMIM:204700
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Micropenis, Bulbous nose, Polymicrogyria, Depressed nasal bridge, Kyphosis, Relative... OMIM:300354
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Cachexia, Ovarian neoplasm, Mediastinal lymphadenopathy, Neoplasm of the lung, Lymp... ORPHA:83469
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypospadias, Patent ductus arteriosus, Low hanging columella, Polymicrogyria, Diabetes mellitus, ... ORPHA:500159
Kabuki Syndrome 2
Highly arched eyebrow, Micrognathia, Broad nasal tip, Hirsutism, Cleft palate, High palate, Hypod... OMIM:300867
Tbck-Related Intellectual Disability Syndrome
Hirsutism, Global brain atrophy, 11 pairs of ribs, Bulbous nose, Abnormal periventricular white m... ORPHA:488632
Masa Syndrome
Kyphosis, Macrocephaly, Hyperlordosis, Agenesis of corpus callosum, Microcephaly OMIM:303350
Myopathy, Myofibrillar, 8
Micrognathia, Pectus excavatum, High palate, Impaired mastication, Achilles tendon contracture, R... OMIM:617258
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Hypospadias, Micrognathia, Cleft palate, Depressed nasal bridge, Pierre-Robin sequence, Short nos... OMIM:217980
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Kyphosis, Short distal phalanx of finger, Dental malocclusion, Abnormality... ORPHA:1858
Classic Galactosemia
Decreased fertility in females, Hepatomegaly, Secondary amenorrhea, Oligomenorrhea, Decreased ser... ORPHA:79239
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Wide mouth, Long philtrum, Trigonocephaly, Secondary microcephaly, Pachygy... OMIM:614583
8P Inverted Duplication/Deletion Syndrome
Micropenis, Cerebellar hypoplasia, Anteverted nares, Micrognathia, Frontal balding, Long philtrum... ORPHA:96092
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Pectus excavatum, Large fontanelles, Brachycephaly, Mandibular prognathia, Malar fl... ORPHA:2511
Nijmegen Breakage Syndrome
Cleft palate, Abnormal hair morphology, Recurrent sinopulmonary infections, Recurrent respiratory... ORPHA:647
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Secondary growth hormone deficiency, Absence of secondary sex characteristics, Redu... ORPHA:2410
Werner Syndrome
Ovarian neoplasm, Secondary amenorrhea, Thyroid carcinoma, Slender build, White forelock, Increas... ORPHA:902
Lateral Meningocele Syndrome
Smooth philtrum, Malar flattening, Patent ductus arteriosus, Umbilical hernia, Meningocele, Micro... OMIM:130720
Genitopatellar Syndrome
Fine hair, Prominent nose, Micrognathia, Patellar aplasia, Hip contracture, Long philtrum, Small ... ORPHA:85201
Sub-Cortical Nodular Heterotopia
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormality of the basal ganglia, Hypoplasia... ORPHA:101029
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Ankylosis, Micrognathia, Cleft palate, Impaired mastication, Glossopt... OMIM:602483
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Underdeveloped nasal alae, Micrognathia, Diastema, Malar flattening, Broad columella, Dental malo... ORPHA:436245
Potocki-Shaffer Syndrome