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Gene: Ide MGI:96412

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Gene Summary

Name:
insulin degrading enzyme
Synonyms:
4833415K22Rik,  1300012G03Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased heart weight Idetm1a(EUCOMM)Wtsi HOM Early adult 1.50×10-06
abnormal maxilla morphology Idetm1a(EUCOMM)Wtsi HOM Early adult 2.54×10-05
abnormal cranium morphology Idetm1a(EUCOMM)Wtsi HOM Early adult 4.34×10-06
increased circulating amylase level Idetm1a(EUCOMM)Wtsi HOM Early adult 2.81×10-11
decreased total body fat amount Idetm1a(EUCOMM)Wtsi HOM Early adult 1.97×10-05
abnormal hair texture Idetm1a(EUCOMM)Wtsi HOM Early adult 9.95×10-06
abnormal incisor morphology Idetm1a(EUCOMM)Wtsi HOM Early adult 1.73×10-06

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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland 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 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 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%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

10 Images

View images
Legacy Phenotype Associated Images
Idetm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Idetm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI
Idetm1a(EUCOMM)Wtsi
forearm, HOM, Male, WTSI
Idetm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Idetm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI

View all 68 images

Human diseases caused by Ide 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Microdontia of primary teeth, Agenesis of perman... OMIM:189500
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Essential Fructosuria
Hyperglycemia ORPHA:2056
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal fingernail morphology, Abnormal dental morphology, Abnormalit... ORPHA:2228
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... ORPHA:2889
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Oligodontia
Orofacial cleft, Agenesis of mandibular premolar, Oligodontia, Widely spaced teeth, Microdontia, ... ORPHA:99798
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Trichodental Dysplasia
Brittle hair, Slow-growing hair, Odontodysplasia, Conical tooth, Fine hair, Hypodontia, Sparse hair OMIM:601453
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hyp... ORPHA:276580
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary t... ORPHA:248
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Amelogenesis Imperfecta
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... ORPHA:88661
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... ORPHA:552
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hypoglycemia, Hyperins... ORPHA:276575
Filippi Syndrome
Ventricular septal defect, Serrated incisors, Thin vermilion border, Short philtrum, Hypodontia, ... OMIM:272440
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of the philtrum, Abnormality of hair texture, Sparse ... OMIM:225060
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Rubinstein-Taybi Syndrome 2
Highly arched eyebrow, Micrognathia, Carious teeth, Talon cusp, Hirsutism, Dental malocclusion, N... OMIM:613684
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal fingernail morphology, Abnormal ... ORPHA:1028
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... ORPHA:3352
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Inguinal hernia, Fine hair, Hypodontia, Sparse hair, Microdontia ORPHA:1174
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Carious teeth, Conical incisor, Onycholysis, Nail dystrophy,... OMIM:614564
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci... OMIM:602400
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Hypoplastic toe... OMIM:613573
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty OMIM:616033
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Hypertrichosis, Mitral valve prolapse, Oligodon... OMIM:601216
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypodontia, Sparse h... OMIM:129490
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... ORPHA:280356
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormality of the dentition, Abnor... ORPHA:573
Intellectual Disability, Birk-Barel Type
Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Micrognathia, High, na... ORPHA:166108
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Pili Torti, Early-Onset
Dry hair, Brittle hair, Enamel hypoplasia, Coarse hair, Hair shafts flattened at irregular interv... OMIM:261900
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem... ORPHA:276556
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormality of the dentition, Fragile nails, Fine hair ORPHA:500166
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... OMIM:618729
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Sparse scalp hair, High anterior hairline, Notched primary central incisor, Muscular ventricular ... OMIM:620062
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Intellectual Developmental Disorder, Autosomal Dominant 21
Cleft palate, Thin vermilion border, Long eyelashes, Narrow mouth, Atrial septal defect, Incisor ... OMIM:615502
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Right ventricular cardiomyopathy OMIM:610476
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Split-Hand/Foot Malformation 3
Ridged nail, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate, High palat... OMIM:246560
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Trichodentoosseous Syndrome
Abnormal hair morphology, Taurodontia, Widely spaced teeth, Microdontia, Fragile nails OMIM:190320
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi... OMIM:601957
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Neona... ORPHA:293964
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Ventricular septal defect, Concave nail, Abnormality of hair text... OMIM:234050
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Mandibular prognathia, Brittle hair, Lipoatrophy, Abnormal h... ORPHA:2963
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Cleft upper lip,... OMIM:129400
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-... ORPHA:2298
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair, Everted lower lip vermilion OMIM:278200
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Abnormality of p... OMIM:257980
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Synophrys, Downturned corners ... OMIM:618067
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla... OMIM:619719
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Supernumerary tooth, Oligodontia, Sparse hair, Uncombable hair ORPHA:1264
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Naxos Disease
Sparse scalp hair, Curly hair, Abnormality of hair texture, Cleft upper lip, Cardiomyopathy, Wool... ORPHA:34217
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Sparse eyelashes, Dental crowding, Micrognathia, Hypoplasia of the max... OMIM:257850
Variant Abeta2M Amyloidosis
Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, Renal amyloidosis, ... ORPHA:314652
Atkin-Flaitz Syndrome
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... ORPHA:1193
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft lip, Cleft palate, Nail dystrophy... ORPHA:2890
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po... OMIM:246200
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor OMIM:616390
Lowry-Maclean Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, High, ... ORPHA:2409
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Abnormality of the... OMIM:129500
Cole Disease
Hyperglycemia OMIM:615522
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Carvajal Syndrome
Woolly hair, Dilated cardiomyopathy ORPHA:65282
Weaver Syndrome
Deep-set nails, Inguinal hernia, Abnormal fingernail morphology, Thin nail, Camptodactyly of fing... ORPHA:3447
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus ORPHA:3085
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Camptodactyly of finger, Carious teeth, Coarse hair, Joint contracture of the 5th f... ORPHA:1883
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... ORPHA:363417
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosuria, Hyperinsul... ORPHA:263455
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Mitral valve prolapse, Fine hair, High palate, Sparse hair OMIM:615278
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... OMIM:300602
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Mandibulofacial Dysostosis With Alopecia
Alopecia, Bicuspid aortic valve, Sparse eyelashes, Dental crowding, Micrognathia, Hypoplasia of t... OMIM:616367
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Diastema, Synophrys, Deep philtrum, Talon cusp, Cleft palate, Microdontia OMIM:605282
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Hypoplasia of the maxilla, Widow... OMIM:136760
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Complete atrioventricular cana... OMIM:619142
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly OMIM:613576
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thin upper lip vermilion, Thick eyebrow, Hypoplasia of the maxilla, Synophrys, Smooth philtrum, W... OMIM:618737
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
2Q32Q33 Microdeletion Syndrome
Dental crowding, Micrognathia, Cleft palate, Fine hair, Oligodontia, Thin vermilion border, High ... ORPHA:251019
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Concave nail, Micrognathia, Velopharyngeal insufficiency, Abnorm... OMIM:300978
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Oligodontia, Thick vermilion border, Thin ... OMIM:617392
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Sparse axillary hair, Hypoplasia of the maxilla, Generalized lipodystrophy, C... OMIM:608154
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Abnormalit... ORPHA:1520
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Mitral valve prolapse, Short philtr... OMIM:216550
Myeloma, Multiple
Amyloidosis OMIM:254500
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Ellis Van Creveld Syndrome
Abnormal hair quantity, Delayed eruption of teeth, Abnormal fingernail morphology, Ventricular se... ORPHA:289
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Curly hair, Aortic valve prolapse, Ventricular septal defect, Pierr... OMIM:619980
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Smooth philtrum, Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defe... OMIM:235510
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Brittle hair, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of ... ORPHA:50814
Vulto-Van Silfhout-De Vries Syndrome
Mandibular prognathia, Tented upper lip vermilion, Widow's peak, Thick lower lip vermilion, Fine ... OMIM:615828
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Inguinal hernia, Abnormal cardiac septum morphology, Abnormal tricu... ORPHA:2412
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Acrogeria
Micrognathia, Lipoatrophy, Fine hair ORPHA:2500
Cutis Laxa, Autosomal Recessive, Type Iia
Inguinal hernia, Brittle hair, Lipodystrophy, Abnormality of hair texture, Carious teeth, Coarse ... OMIM:219200
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Trichothiodystrophy 8, Nonphotosensitive
Thin upper lip vermilion, Sparse eyebrow, Long philtrum, Sparse hair, Woolly hair, Retrognathia, ... OMIM:619691
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
Hawkinsinuria
Sparse hair, Abnormal circulating tyrosine concentration, Fine hair ORPHA:2118
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal fingernail morphology, Abnormal dental morphology, Open bite, Hyp... ORPHA:3079
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Synophrys, Supernumerary tooth, Submucous cleft hard palate,... OMIM:617412
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Ventricular ... ORPHA:1071
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Frontal balding ORPHA:93945
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Elevated circulating creatine kinase concentration, Fine hair OMIM:272300
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd... ORPHA:1248
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Slow-growing hair, Thin nail, Concave nail, ... OMIM:190350
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia ORPHA:79237
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Ventricular septal defect, Absent eyela... OMIM:106260
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Natal tooth, Angular cheilitis, Sparse eye... OMIM:167210
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... OMIM:150400
Hall-Riggs Syndrome
Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Down... ORPHA:2107
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Nance-Horan Syndrome
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor OMIM:302350
Short Syndrome
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Slow-growing hair, Micrognathia, Abnormal hair morphology, Abnormal palate... ORPHA:3082
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum OMIM:156510
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Ventricular septal defect, Foot joint contracture, Micrognathia, Sparse eyebrow,... ORPHA:444072
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta OMIM:104510
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Trichothiodystrophy 5, Nonphotosensitive
Mandibular prognathia, Brittle hair, Slow-growing hair, Sparse eyebrow, Wide mouth, Reduced hair ... OMIM:300953
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Synophrys, Broad eyebrow OMIM:618302
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia OMIM:601809
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
Trichohepatoenteric Syndrome 2
Hepatomegaly, Brittle hair, Decreased serum iron, Uncombable hair, Sparse hair, Woolly hair, Tric... OMIM:614602
Lujan-Fryns Syndrome
Dental crowding, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Abnormality of... ORPHA:776
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... ORPHA:3353
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Mandibular prognathia, Sparse scalp hair, Fine hair ORPHA:2324
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Narrow mouth, Synophrys, Narrow palate, Fine hair, Hypoplasia of teeth, Wide mouth,... OMIM:620250
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Thin upper lip vermilion, Dorsocervical fat pad, Micrognathia, Synophrys, Low anterior hairline, ... ORPHA:391408
Fanconi-Bickel Syndrome
Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp... ORPHA:2088
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Atrial septal defect, Malar flatt... OMIM:241310
Noonan Syndrome 5
Mandibular prognathia, Curly hair, Sparse eyebrow, Fine hair, Wide mouth, Thick vermilion border,... OMIM:611553
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Thick hair, Hamartoma of tongue, Micrognathia, Unilateral alveolar... ORPHA:2751
Aarskog-Scott Syndrome
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Hypoplasia ... ORPHA:915
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hyperglycemia, Decreased serum testosterone con... ORPHA:465508
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Cerebellofaciodental Syndrome
Ventricular septal defect, Sparse eyebrow, Dental malocclusion, Mitral valve prolapse, Fine hair,... OMIM:616202
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Ma... ORPHA:364028
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Rabson-Mendenhall Syndrome
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... ORPHA:769
Leopard Syndrome 2
Mandibular prognathia, Curly hair, Hypertrophic cardiomyopathy, Thick lower lip vermilion OMIM:611554
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Atrial septal defect, Tented upper lip vermilion, Thin upper lip vermilion, Sparse ey... OMIM:620075
Distal Duplication 6P
Abnormal hair quantity, Micrognathia, Abnormal eyelash morphology, Fine hair, Thin vermilion bord... ORPHA:1745
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors OMIM:610706
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Narrow mouth, Atrial septal defect, Malar flattening, Long philtrum ORPHA:261295
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Patchy alopecia, High palate, Camptodactyly of finger ORPHA:85279
Costello Syndrome
Deep-set nails, Abnormal fingernail morphology, Ventricular septal defect, Abnormal dental enamel... ORPHA:3071
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Abnormal palate morphology, Fine hair ORPHA:3236
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Leukonychia, Tooth agenesis, Nail dystrophy, Woolly hair, Fragile nails, ... OMIM:615821
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, ... OMIM:252920
Acrofacial Dysostosis, Catania Type
Microretrognathia, Inguinal hernia, Abnormal hair pattern, Abnormality of the dentition, Carious ... ORPHA:1786
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Ventricular septal defect, Coarse hair, Everted lower lip vermilion, Nail... ORPHA:75389
Congenital Generalized Lipodystrophy
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Precocious puberty in females ORPHA:528
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Sparse h... OMIM:305100
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus OMIM:615710
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Crowded maxillary incisors ORPHA:397973
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Inguinal hernia, Hypoplasia of the maxilla, Abnormal heart morphology, Sho... OMIM:601499
Mandibuloacral Dysplasia
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Narrow philtrum, Thick lower lip vermili... ORPHA:163654
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Flexion contracture, Absence of subcutaneous fat, Triangular mouth, ... OMIM:601675
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Pili torti, Fine hair ORPHA:1573
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Supernumerary nipple, Fine hair, Wide mouth, Sparse or absent eyelashe... ORPHA:217346
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth OMIM:137550
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Hypothyroidism ORPHA:90065
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus OMIM:151660
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, Everted lower ... OMIM:252930
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Mandibular prognathia, Highly arched eyebrow, Micrognathia, Hypoplasia of the maxil... OMIM:620157
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Kagami-Ogata Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Micrognathia, Hypoplasia o... OMIM:608149
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Thin upper lip vermilion, Fine hair, Downturned corners of mouth, Long eyelashes, Short philtrum,... ORPHA:231137
Dend Syndrome
Hyperglycemia ORPHA:79134
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Macroglossia, Glossitis, Genera... ORPHA:2221
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Abnormal dental morphology, Abnormality of ... ORPHA:238468
Bazex-Dupre-Christol Syndrome
Furrowed tongue, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Koolen-De Vries Syndrome
Hypopigmentation of hair, Bicuspid aortic valve, Abnormal dental enamel morphology, Abnormality o... ORPHA:96169
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Long philtrum, Cleft palate, Mitral valve prolapse ORPHA:90653
Cardiofaciocutaneous Syndrome 3
Curly hair, Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hyper... OMIM:615279
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Low anterior hairline, Coarse hair, Olig... ORPHA:2095
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair, Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion ... OMIM:619184
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hai... OMIM:252900
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Brittle hair, Micrognathia, Sparse eyebrow, Narrow mouth, Hypocholesterolemia, Hype... OMIM:618810
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair, Ankle flexion contracture OMIM:619985
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93950
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars... OMIM:616788
Distal Deletion 19P
Alopecia, Vaginal hernia, Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Kel... ORPHA:96129
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Highly arched eyebrow, Absent eyelashes, Hypoplasia of the maxilla, Thick verm... ORPHA:228396
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance OMIM:248370
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Hypoplasia of the maxilla, Abnormal hair whorl, Cleft palate, Small na... OMIM:614261
Incontinentia Pigmenti
Ridged nail, Delayed eruption of teeth, Alopecia, Scarring, Supernumerary nipple, Conical tooth, ... OMIM:308300
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly, Alopecia, Brittle hair, High palate ORPHA:50812
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Camptodactyly of finger, Narrow mouth ORPHA:1529
8Q22.1 Microdeletion Syndrome
Sparse eyelashes, Camptodactyly of finger, Abnormal hair pattern, Highly arched eyebrow, Sparse e... ORPHA:178303
Pycnodysostosis
Ridged nail, Obtuse angle of mandible, Delayed eruption of primary teeth, Micrognathia, Hypoplasi... ORPHA:763
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Lipodystrophy, Thick hair, Carious teeth, Abnormal subcutaneous fat tissue distr... ORPHA:357074
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Micrognathia, Fine hair, Downturned corners of mouth, Oligodontia, Narrow mouth, Sparse hair OMIM:616817
Oculodentodigital Dysplasia
Mandibular prognathia, Brittle hair, Micrognathia, Sparse hair, Abnormality of the nail, Abnormal... ORPHA:2710
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Oculodentodigital Dysplasia
Atrial septal defect, Dry hair, Slow-growing hair, Selective tooth agenesis, Cleft upper lip, Car... OMIM:164200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglyc... ORPHA:71212
Fg Syndrome 3
Sparse hair, Joint contracture, Frontal upsweep of hair, Fine hair OMIM:300406
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Smooth philtrum, Curly hair, Thin upper lip vermilion, Ventricular septal defect, Short lingual f... OMIM:617360
Keipert Syndrome
Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow, Aplastic/hypoplas... ORPHA:2662
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Micrognathia, Synophrys, Hypoplastic sweat glands, Dental malocclusi... ORPHA:73223
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower lip vermilion, Hi... ORPHA:293939
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Brittle hair, Absent nipple, Oligodontia, Everted lower lip vermilion, Hypodontia, Sparse hair, A... OMIM:614940
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:134
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Congenital diaphragmatic hernia, Micrognathia OMIM:166300
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, High palate OMIM:300676
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Rubinstein-Taybi Syndrome 1
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur... OMIM:180849
Trichothiodystrophy 3, Photosensitive
Natal tooth, Brittle hair, Carious teeth, Eclabion, Tiger tail banding, Trichorrhexis nodosa OMIM:616395
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... ORPHA:192
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Sparse eyelashes, Lipodystrophy,... OMIM:209885
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Cleft palate, Aplastic/... ORPHA:1812
Hereditary Mucoepithelial Dysplasia
Alopecia, Gingival overgrowth, Furrowed tongue, Fine hair, Sparse hair ORPHA:1839
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ... ORPHA:438216
Cohen Syndrome
Ventricular septal defect, Thick hair, Aplasia/Hypoplasia of the tongue, Micrognathia, Abnormal e... ORPHA:193
Trisomy 20P
Smooth philtrum, Inguinal hernia, Thick hair, Highly arched eyebrow, Camptodactyly of finger, Mic... ORPHA:261318
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Marshall Syndrome
Sparse eyelashes, Micrognathia, Hypoplasia of the maxilla, Sparse eyebrow, Abnormality of the den... ORPHA:560
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair, Widely spaced teeth, Smooth philtrum OMIM:616351
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Thin upper lip vermilion, Micrognathia, Fine hair, Wide mouth, Widely-spaced maxillary central in... ORPHA:363686
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Chand Syndrome
Curly hair, Commissural lip pit, Nail dysplasia OMIM:214350
Noonan Syndrome 4
Curly hair, Ventricular septal defect, Sparse eyebrow, Dental malocclusion, Wide mouth, Hypertrop... OMIM:610733
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Ventricular septal hypertrophy, Abnormal aortic val... OMIM:615280
Marshall Syndrome
Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s... OMIM:154780
Nager Syndrome
Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft pal... ORPHA:245
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Brittle hair, Carious teeth, Cleft palate, H... OMIM:607812
Hallermann-Streiff Syndrome
Natal tooth, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Micrognathi... ORPHA:2108
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair, Right ventricular cardiomyopathy OMIM:611528
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... OMIM:170390
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Sparse eyelashes, Highly arched eyebrow, Abnormality of the dentition, ... OMIM:608156
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Synophrys, Pierre-Rob... ORPHA:364577
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Lipomas of eyelids, Widow's peak, Hypoplasia of the maxilla OMIM:167730
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Synophrys, Flexion contracture, Low anterior hairline, Enlarged kidne... OMIM:617303
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands OMIM:300291
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Abnormality of the dentit... ORPHA:978
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Micrognathia, Mitral valve prolapse, Wide mouth, High palate, Short philtrum, Thick v... OMIM:300986
Fetal Hydantoin Syndrome
Cleft palate, Low posterior hairline, Wide mouth, Coarse hair, Everted lower lip vermilion, Herni... ORPHA:1912
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Hyperbilirubinemia, Atrial septal defect, Elevated circulating long... OMIM:614886
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Low anterior hairlin... OMIM:619244
Naxos Disease
Subungual hyperkeratosis, Curly hair, Right ventricular cardiomyopathy, Abnormal morphology of ri... OMIM:601214
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of upper lip vermillion, Ventricular septal defect, Dental crowding, Micrognathia, Ab... ORPHA:251028
Olmsted Syndrome 2
Cheilitis, Flexion contracture of digit, Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Ogden Syndrome
Microretrognathia, Inguinal hernia, Everted upper lip vermilion, Ventricular septal defect, High,... ORPHA:276432
Trichohepatoenteric Syndrome 1
Curly hair, Hepatomegaly, Brittle hair, Ventricular septal defect, Splenomegaly, Narrow mouth, Fi... OMIM:222470
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Tooth agenesis, Cardiomyocyte... OMIM:605676
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli... ORPHA:199302
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Atrial septal def... ORPHA:79113
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Short uvula, Cleft palate, Fine hair, Agenesis of permanent teeth, Fused ... OMIM:614091
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Brittle hair, Dental crowding, Hyperhomocystinemia, Mitral valve prolapse, High ... OMIM:236200
Recon Progeroid Syndrome
Smooth philtrum, Prominence of the premaxilla, Dental crowding, Hyperconvex thumb nails, Absent l... OMIM:620370
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, High palate, Flexion contracture, Low anterior hairline OMIM:218000
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia ORPHA:79086
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia ORPHA:440713
Noonan Syndrome 6
Curly hair, Long eyebrows, Low posterior hairline, Pulmonic stenosis, Sparse hair, Hypertrophic c... OMIM:613224
Menkes Disease
Sparse hair, Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration OMIM:309400
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati... ORPHA:330015
Noonan Syndrome 8
Curly hair, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... OMIM:615355
Genitopatellar Syndrome
Delayed eruption of teeth, Sparse scalp hair, Hip contracture, Micrognathia, Knee flexion contrac... ORPHA:85201
Lateral Meningocele Syndrome
Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Dental crowding, Micrognathia,... OMIM:130720
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Abnormality of the dentition, Conical tooth, Fine hair, Broad philtrum ORPHA:228390
Leopard Syndrome 3
Curly hair, Low posterior hairline, Abnormal aortic valve morphology, Abnormal mitral valve morph... OMIM:613707
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Micrognathia, Hypoplasia of the... OMIM:300534
Carpenter Syndrome 1
Omphalocele, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Persistence of p... OMIM:201000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair, Right ventricular cardiomyopathy, Increased circulating creatine kinase MB isoform OMIM:610193
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, Hypoplasia of... OMIM:309520
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology ORPHA:1540
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Natal tooth, Cardiomegaly, Absent eyelashes, Cleft palate, Cardiomyopathy, Absent... ORPHA:158687
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... OMIM:252100
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Curly hair, Wide mouth, Long philtrum, Umbilical hernia, Open mouth, Sm... OMIM:616638
Trichohepatoneurodevelopmental Syndrome
Curly hair, Hepatomegaly, Ventricular septal defect, Dental crowding, Microdontia, Splenomegaly, ... OMIM:618268
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia ORPHA:466722
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Copper Deficiency, Familial Benign
Curly hair, Decreased circulating copper concentration, Early balding OMIM:121270
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Isolated Permanent Neonatal Diabetes Mellitus
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cells, Glyco... ORPHA:99885
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Ventricular septal defect, Multiple joi... ORPHA:33364
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario... ORPHA:1798
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of hair texture, Abnormality of the dentiti... ORPHA:2752
Orofaciodigital Syndrome I
Microretrognathia, Alopecia, Dry hair, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Ca... OMIM:311200
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Slow-growing hair OMIM:616943
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology ORPHA:93262
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Atrial septal defect, Slow-growing hair, Abnormality of the dentition... OMIM:115150
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Synophrys, Low anterior hairline, Downturned corners of mou... ORPHA:955
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Microdonti... ORPHA:1307
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair, Obtuse angle of mandible, Micrognathia, High palate, Malar flattening ORPHA:85184
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Synophrys, Gingival overgrowth, Fine hair, Long philtrum, Smooth philtrum OMIM:619428
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,... ORPHA:439822
Cardiofaciocutaneous Syndrome
Atrial septal defect, Brittle hair, Slow-growing hair, Abnormal heart valve morphology, Abnormal ... ORPHA:1340
W Syndrome
Submucous cleft hard palate, Agenesis of maxillary central incisor, Abnormality of the scalp hair... ORPHA:2804
Aapoaiv Amyloidosis
Diabetes mellitus, Renal interstitial amyloid deposits, Cutaneous amyloidosis, Renal amyloidosis,... ORPHA:439232
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Hepatomegaly, Abnormal fingernail morphology, Abnormality ... ORPHA:1775
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Rodrigues Blindness
Sparse hair, Tooth malposition, Fine hair OMIM:268320
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Fasting hypoglycemia, Glycosuria OMIM:227810
Hallermann-Streiff Syndrome
Sparse scalp hair, Natal tooth, Sparse eyelashes, Selective tooth agenesis, Micrognathia, Sparse ... OMIM:234100
Treacher-Collins Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Absent eyelashes, Ab... ORPHA:861
Chops Syndrome
Curly hair, Ventricular septal defect, Thick hair, Splenomegaly, Synophrys, High, narrow palate, ... OMIM:616368
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Cerebrofaciothoracic Dysplasia
Abnormal hair pattern, Cleft upper lip, Synophrys, Cleft palate, Low posterior hairline, Broad ph... ORPHA:1394
Angelman Syndrome
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... OMIM:105830
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenu... ORPHA:2750
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Achilles tendon contracture, Hirsutism, E... OMIM:252940
Opitz-Kaveggia Syndrome
Inguinal hernia, Multiple joint contractures, Dental crowding, Micrognathia, Cleft upper lip, Thi... OMIM:305450
Noonan Syndrome 2
Curly hair, Mitral stenosis, Ventricular septal defect, Micrognathia, Sparse eyebrow, Low posteri... OMIM:605275
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mout... ORPHA:950
Martsolf Syndrome 1
Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Tooth malpositio... OMIM:212720
Ctcf-Related Neurodevelopmental Disorder
Thin upper lip vermilion, Inguinal hernia, Highly arched eyebrow, Abnormality of the dentition, S... ORPHA:363611
Noonan Syndrome 14
Curly hair, Sparse eyebrow, High, narrow palate, Low posterior hairline, Mitral valve prolapse, W... OMIM:619745
Koolen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormality of hair texture, Cleft upper lip, C... OMIM:610443
Noonan Syndrome 7
Curly hair, Low posterior hairline, Thick vermilion border, Pulmonic stenosis, Atrial septal defe... OMIM:613706
Ablepharon Macrostomia Syndrome
Omphalocele, Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Microdontia, Absent ... ORPHA:920
Leprechaunism
Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increased circu... ORPHA:508
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Broad eyebrow, Hypoplasia of the maxilla, Flexion contracture, Thin vermilion border, High palate... ORPHA:481152
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia OMIM:613327
Cranioectodermal Dysplasia 3
Short nail, Micrognathia, Broad nail, Fine hair, Hypoplasia of teeth, Widely spaced teeth, Everte... OMIM:614099
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont... ORPHA:35173
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Dental crowding, Carious teeth, Pi... ORPHA:353281
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Atrial septal defect, Thin upper lip vermilion, Slow-growing hair, Ventricular septal... OMIM:617506
Noonan Syndrome 9
Sparse eyebrow, Curly hair, Ventricular septal defect, Pulmonic stenosis OMIM:616559
Atypical Werner Syndrome
Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... ORPHA:79474
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Hypoplasia of the ... ORPHA:2399
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Short philtrum, Widely spaced teeth, Sparse hair, Hepatomegaly, Highly arched eyebrow, Cleft lip,... OMIM:280000
Chime Syndrome
Ventricular septal defect, Abnormal dental morphology, Abnormality of the dentition, Supernumerar... ORPHA:3474
Eec Syndrome
Slow-growing hair, Abnormal dental enamel morphology, Sparse eyebrow, Carious teeth, Nail pits, F... ORPHA:1896
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... ORPHA:37553
Marshall-Smith Syndrome
Irregular dentition, Brittle hair, Synophrys, Glossoptosis, Short philtrum, High palate, Atrial s... OMIM:602535
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Macroglossia, Nail dystrophy, Atrial septal defect ORPHA:93947
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Micrognathia, Open bite, Widow's peak, Deep philtrum, Wide mo... ORPHA:1974
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair, Right ventricular cardiomyopathy OMIM:607450
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Triangular mouth OMIM:617988
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... OMIM:211380
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Aa Amyloidosis
Hypothyroidism, Amyloidosis, Renal amyloidosis, Adrenal insufficiency ORPHA:85445
Peeling Skin Syndrome 1
Brittle hair, Onycholysis, Nail dystrophy OMIM:270300
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Microdontia, Everted lower lip vermilion, Hypodontia ORPHA:782
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia OMIM:108721
Aarskog-Scott Syndrome
Inguinal hernia, Cleft upper lip, Hypoplasia of the maxilla, Widow's peak, Cleft palate, Curved l... OMIM:305400
Mucoepithelial Dysplasia, Hereditary
Alopecia, Erythematous oral mucosa, Cor pulmonale, Furrowed tongue, Coarse hair, Nail dystrophy, ... OMIM:158310
2P15P16.1 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Supernumerary nipple, Sparse eyebrow, Fine hair, Long e... ORPHA:261349
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Inguinal hernia, Supernumerary nipple, Highly arched eyebrow, Poliosis, Micrognathia, Synophrys, ... OMIM:213980
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:3008
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Inguinal hernia, Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, S... OMIM:252500
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Trichor... ORPHA:634
Amyloidosis, Familial Visceral
Generalized amyloid deposition OMIM:105200
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormality of the dentition... OMIM:612394
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Coarse hair, Sparse hair OMIM:118650
Doors Syndrome
Short lingual frenulum, Low anterior hairline, Downturned corners of mouth, Widely spaced teeth, ... ORPHA:79500
Chand Syndrome
Curly hair, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesi... ORPHA:1401
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Lipoatrophy, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum,... OMIM:601812
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Highly arched eyebrow, Hypoplasia of the maxilla, Synophrys, Oligodont... OMIM:609460
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Patent f... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Patent f... ORPHA:353277
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Flexion contracture, Hirsutism, Ging... OMIM:253220
Cranioectodermal Dysplasia 1
Hepatomegaly, Inguinal hernia, Slow-growing hair, Short nail, Thin nail, Bicuspid aortic valve, H... OMIM:218330
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Fine hair, Thin vermilion border, Hypoplasia of the zygomatic bone, Long philtrum, Thick eyebrow OMIM:614800
Crouzon Syndrome
Hypoplasia of the maxilla, Narrow palate ORPHA:207
Argininosuccinic Aciduria
Hepatomegaly, Dry hair, Brittle hair, Hypoargininemia, Hyperglutaminemia, Hyperammonemia, Episodi... OMIM:207900
Arboleda-Tham Syndrome
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Hi... OMIM:616268
Syndromic Diarrhea
Atrial septal defect, Hypopigmentation of hair, Brittle hair, Bicuspid aortic valve, Hepatomegaly... ORPHA:84064
Van Maldergem Syndrome 2
Irregular dentition, Inguinal hernia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the... OMIM:615546
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Cutaneous lichen amyloidosis, Increased circulat... OMIM:171400
Ritscher-Schinzel Syndrome 4
Curly hair, Narrow palate, Wide mouth, Thick vermilion border, High palate, Short philtrum OMIM:619435
Frontorhiny
Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Widow's peak, Hypoplasti... ORPHA:391474
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Inguinal hernia, Femoral hernia, Hypoplasia of ... ORPHA:2588
Diamond-Blackfan Anemia 21
Micrognathia, Secundum atrial septal defect, Synophrys, Widow's peak, Coarse hair, Horizontal eye... OMIM:620072
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Hypoammonemia, Micrognathia, Deep philtrum, Gingivitis, P... ORPHA:534
Meier-Gorlin Syndrome 4
Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Narrow mouth, Breast hypoplasia OMIM:613804
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Coarse hair, High palate, Long philtrum OMIM:605309
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Cowden Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth, Subcutaneous... OMIM:615108
Branchioskeletogenital Syndrome
Mandibular prognathia, Absent nipple, Unilateral cleft palate, Highly arched eyebrow, Abnormality... ORPHA:1299
Fontaine Progeroid Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Synophrys, Low a... OMIM:612289
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Conical tooth, Sparse eyebrow, Fine hair, Widely spaced teeth... OMIM:613451
Spinocerebellar Ataxia-Dysmorphism Syndrome
Downturned corners of mouth, Coarse hair, Thick vermilion border ORPHA:1185
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Hip contracture, Interphalangeal joint contracture of finger, Ankle fl... OMIM:259600
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Nicolaides-Baraitser Syndrome
Dry hair, Short lingual frenulum, High, narrow palate, Low anterior hairline, Widely spaced teeth... OMIM:601358
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Weaver Syndrome
Deep-set nails, Mandibular prognathia, Inguinal hernia, Thin nail, Retrognathia, Fine hair, Campt... OMIM:277590
Mucopolysaccharidosis Type 3
Hepatomegaly, Inguinal hernia, Craniofacial hyperostosis, Thick hair, Cardiomegaly, Abnormality o... ORPHA:581
Van Maldergem Syndrome 1
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... OMIM:601390
Netherton Syndrome
Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair OMIM:256500
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening OMIM:109120
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Fine hair, Tooth agenesis, Atrial septal defect, Microdontia, Retrognathia, Aplasia/Hypoplasia of... ORPHA:2637
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Sparse pubic hair, Hypoplasia of the maxilla, Breast aplasia, Mandibular prognathia ORPHA:3044
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormality of the dentition, Abnormal fingernail morphology, Fine hair ORPHA:1806
Cowden Syndrome 6
Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth, Subcutaneous... OMIM:615109
Mucolipidosis Type Ii
Hip contracture, Dry hair, Inguinal hernia, Abnormal mitral valve morphology, Splenomegaly, White... ORPHA:576
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia OMIM:124000
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corn... OMIM:619950
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Bicuspid aortic valve, Highly arched eyebrow, Splenomegaly, Deep philtrum, Fine hair, Low posteri... OMIM:613563
Holoprosencephaly 9
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... OMIM:610829
Alzheimer Disease 4
Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:606889
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Inguinal hernia, Sparse eyelashes, Absence of Stensen duct, Sparse axillary ha... OMIM:129900
Multiple Sulfatase Deficiency
Hepatomegaly, Thick eyebrow, Splenomegaly, Coarse hair, Smooth philtrum ORPHA:585
Renpenning Syndrome 1
Mandibular prognathia, Atrial septal defect, Thin upper lip vermilion, Brittle hair, Ventricular ... OMIM:309500
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Hip contracture, Mandibular prognath... OMIM:216400
Craniofrontonasal Syndrome
Ridged nail, Curly hair, Split nail, Congenital diaphragmatic hernia, Cleft upper lip, Abnormalit... OMIM:304110
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia ORPHA:2126
Shprintzen-Goldberg Craniosynostosis Syndrome
Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Narrow palate, Mit... OMIM:182212
Noonan Syndrome 10
Curly hair, Ventricular septal defect, Sparse eyebrow, Mitral valve prolapse, Hypertrophic cardio... OMIM:616564
Onychotrichodysplasia And Neutropenia
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... OMIM:258360
Peters-Plus Syndrome
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Short lingual frenulum... OMIM:261540
Lipodystrophy, Congenital Generalized, Type 1
Insulin-resistant diabetes mellitus at puberty, Diabetes mellitus, Hyperinsulinemia, Decreased se... OMIM:608594
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Wide mouth, Curly hair, Open mouth, Long philtrum ORPHA:457485
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... ORPHA:293987
Cerebrofacioarticular Syndrome
Irregular dentition, Micrognathia, Hypoplasia of the maxilla, Narrow mouth, Abnormal heart morpho... ORPHA:314679
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Mandibular prognathia, Delayed erupt... OMIM:133540
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Inguinal hernia, Hypoglycinemia, Abnormality of hair texture, Hyposerinemia, Umbilical hernia ORPHA:79351
Melnick-Needles Syndrome
Omphalocele, Obtuse angle of mandible, Delayed eruption of teeth, Micrognathia, Tooth malposition... OMIM:309350
Palmoplantar Carcinoma, Multiple Self-Healing
Cutaneous macular amyloidosis, Amyloidosis OMIM:615225
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Cutis Laxa, Autosomal Recessive, Type Iiib
Inguinal hernia, Flexion contracture, Elbow flexion contracture, Fine hair, Thin vermilion border... OMIM:614438
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Micrognathia, Deep philtrum, ... OMIM:300855
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Sparse eyelashes, Absence of Stensen duct, Sparse axillary hair, Selective too... OMIM:604292
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hepatomegaly, Abnormal pulmonary valve morphology, Premature loss of p... ORPHA:667
Myhre Syndrome
Mandibular prognathia, Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect,... OMIM:139210
Pfeiffer Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Dental crowding OMIM:101600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pericallosal lipoma, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Hypoplasia of the... ORPHA:306542
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Sparse axillary hair, Sparse pubic hair, Cardiac myxoma, Fine hair, Agenes... OMIM:181270
Bartsocas-Papas Syndrome 1
Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Inguinal hernia, Alopecia totalis, Micr... OMIM:263650
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Thin upper lip vermilion, Abnormal fingernail morphology, Thick hair, Highly arched e... ORPHA:444077
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Glycosuria OMIM:600001
Lipodystrophy, Congenital Generalized, Type 2
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Type II diabetes mellitus, Decr... OMIM:269700
Crouzon Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Dental crowding OMIM:123500
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Atrial septal defect, Ventricular septal defect, Inguinal hernia, ... OMIM:607721
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Hypoplasia of the maxilla, High,... ORPHA:1101
Van Den Ende-Gupta Syndrome
Abnormal eyebrow morphology, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narr... OMIM:600920
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Micrognathia, Synophrys, Flexion contracture, Deep philtr... OMIM:619503
Cowden Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth, Subcutaneous... OMIM:158350
Geroderma Osteodysplasticum
Mandibular prognathia, Hypoplasia of the maxilla, Periodontitis, Camptodactyly, Malar flattening OMIM:231070
Dubowitz Syndrome
Delayed eruption of teeth, Sparse scalp hair, Abnormal fingernail morphology, Micrognathia, Hypop... ORPHA:235
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,... OMIM:101800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Pulp calcification, Hyperphosphatemia, Taurodontia, Enamel hypoplasia OMIM:211900
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Sparse scalp hair, Thin upper lip vermilion, Aplasia of the right hemidiap... OMIM:619841
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Conical tooth, Short philtrum, High palate, Atrial sep... OMIM:135900
Meier-Gorlin Syndrome 3
Microretrognathia, Sparse axillary hair, Micrognathia, Sparse pubic hair, Hypoplasia of the maxil... OMIM:613803
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Cleft palate, Retrognathia, Aplastic zygomatic arch OMIM:616462
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Brittle hair, Flexion contracture, Submucous cleft hard palate, Fine hair, ... OMIM:618891
Shprintzen-Goldberg Syndrome
Inguinal hernia, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, High, narrow p... ORPHA:2462
Schimke Immunoosseous Dysplasia
Microdontia, Coarse hair, Fine hair OMIM:242900
Scorpion Envenomation
Hyperglycemia, Glycosuria ORPHA:466677
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:117300
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Oral leukoplakia OMIM:613990
7Q31 Microdeletion Syndrome
Atrial septal defect, Hypoplasia of the maxilla, Wide mouth, Long philtrum ORPHA:251061
3Mc Syndrome 2
Prominence of the premaxilla, Highly arched eyebrow, Cleft upper lip, Cleft palate, Downturned co... OMIM:265050
Saethre-Chotzen Syndrome
Abnormal hair pattern, Hypoplasia of the maxilla, Open bite, Low anterior hairline, Narrow palate... ORPHA:794
Zttk Syndrome
Curly hair, Ventricular septal defect, Abnormality of the dentition, Sparse eyebrow, Hypoplasia o... OMIM:617140
Revesz Syndrome
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Oral leukoplakia, Ridged fingernail OMIM:268130
Menkes Disease
Hypopigmentation of hair, Inguinal hernia, Micrognathia, Atypical scarring of skin, Abnormal pala... ORPHA:565
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Distal Deletion 12Q
Median cleft lip, Micrognathia, High, narrow palate, Supernumerary tooth, Elbow flexion contractu... ORPHA:96149
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon... OMIM:613805
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Cleft... ORPHA:87
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair OMIM:250250
Cutis Laxa, Autosomal Recessive, Type Iic
Reduced subcutaneous adipose tissue, Mandibular prognathia, Dental crowding, Hypoplasia of the ma... OMIM:617402
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Meier-Gorlin Syndrome 1
Hyperconvex nail, Micrognathia, Hypoplasia of the maxilla, Narrow mouth, Flexion contracture, Cle... OMIM:224690
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Coffin-Lowry Syndrome
Mandibular prognathia, Inguinal hernia, Highly arched eyebrow, Thick lower lip vermilion, Dental ... OMIM:303600
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous ... ORPHA:2554
Galloway-Mowat Syndrome 9
Coarse hair, Hiatus hernia OMIM:619603
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Hypop... OMIM:166250
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Abnormal dental morphology, Delayed ... ORPHA:191
Noonan Syndrome
Abnormal hair quantity, Hepatomegaly, Abnormal pulmonary valve morphology, Micrognathia, Thick lo... ORPHA:648
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv... OMIM:222700
Weill-Marchesani Syndrome 1
Ventricular septal defect, Hypoplasia of the maxilla, Tooth malposition, Narrow palate, Pulmonic ... OMIM:277600
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair, Oral leukoplakia OMIM:612199
Liver Disease, Severe Congenital
Dry hair, Cardiomegaly, Micrognathia, Hypocalcemia, Elevated hepatic iron concentration, Atrial s... OMIM:619991
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Congenital diaphragmatic hernia, Oligodontia, Absent fingernail, Spars... OMIM:305600
Aicardi Syndrome
Prominence of the premaxilla, Hiatus hernia, Cleft upper lip, Cleft palate, Multiple lipomas, Sho... ORPHA:50
Costello Syndrome
Deep-set nails, Curly hair, Atrial septal defect, Ventricular septal defect, Thin nail, Concave n... OMIM:218040
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Microphthalmia With Limb Anomalies
Abnormal eyebrow morphology, Macrodontia, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia ... ORPHA:1106
Brachytelephalangic Chondrodysplasia Punctata
Atrial septal defect, Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine, Ventricu... ORPHA:79345
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia OMIM:220111
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Mitral valve calcification, Hypoplasia of the tooth germ, Cardiomegaly,... OMIM:182250
Weill-Marchesani Syndrome 2
Ventricular septal defect, Hypoplasia of the maxilla, Elbow flexion contracture, Tooth malpositio... OMIM:608328
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Cerebral amyloid angiopathy OMIM:176500
Adrenomyeloneuropathy
Frontal balding, Abnormal circulating fatty-acid concentration, Intra-oral hyperpigmentation, Fin... ORPHA:139399
Abeta Amyloidosis, Dutch Type
Cerebral amyloid angiopathy ORPHA:100006
Cockayne Syndrome Type 3
Hepatomegaly, Dry hair, Carious teeth, Splenomegaly, Flexion contracture, Premature graying of ha... ORPHA:90324
Periodic Fever, Familial, Autosomal Dominant
AA amyloidosis, Hepatic amyloidosis OMIM:142680
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Bloom Syndrome
Malar flattening, Elevated hemoglobin A1c, Agenesis of maxillary lateral incisor, Hypertrichosis OMIM:210900
Neuroocular Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Short uvula, Submucous cleft hard palate, Retrogn... OMIM:619539
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... ORPHA:96334
Stickler Syndrome
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open... ORPHA:828
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodontitis, Microdontia, Alopecia... ORPHA:286
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99413
Mosaic Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99226
Turner Syndrome
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:881
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Low anterior hairline, Muscular ventricular septal defect OMIM:618569
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hi... OMIM:304150
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Atrial septal defect, Hip contracture, Sparse eyelashes, Ventricular septal de... OMIM:210710
Aicardi Syndrome
Prominence of the premaxilla, Hiatus hernia, Cleft upper lip, Cleft palate, Lipoma, Sparse latera... OMIM:304050
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Cardiomyopathy, Brittle hair OMIM:616084
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... OMIM:149730
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the endocrine system, Abnormality of the male genitalia... ORPHA:228123
Noonan Syndrome 1
Ventricular septal defect, Micrognathia, High, narrow palate, Dental malocclusion, Cleft palate, ... OMIM:163950
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Inguinal hernia, Micrognathia, Contracture of the distal interphalangeal joint of t... ORPHA:83617
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy, Hypo... OMIM:614748
Robin Sequence With Cleft Mandible And Limb Anomalies
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C... OMIM:268305
Woodhouse-Sakati Syndrome
Alopecia, Hyperlipidemia, Fine hair, Sparse hair, Anodontia OMIM:241080
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Inguinal hernia, White hair, Fine hair ORPHA:935
Cerebral Amyloid Angiopathy, App-Related
Cerebral amyloid angiopathy OMIM:605714
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Thick hair, Hiatus hernia, High, narrow palate, Atypic... ORPHA:198
Primrose Syndrome
Sparse scalp hair, Hip contracture, Absent facial hair, Elevated circulating alpha-fetoprotein co... OMIM:259050
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... OMIM:614188
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Microretrognathia, Inguinal hernia, Smooth philtrum, Thin upper li... OMIM:613406
Greenberg Dysplasia
Hepatomegaly, Micrognathia, Hypoplasia of the maxilla, Hepatosplenomegaly, Retrognathia OMIM:215140
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Hig... OMIM:614437
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Submucous cleft soft palate, Sparse eyebrow, Hypoplasia of the maxilla, Cleft palate,... ORPHA:500150
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Hypoplasia of the maxilla, Oligodontia, Short philtrum, Hypodontia, Mic... OMIM:180500
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Thin upper lip vermilion, Abnormality of the dentition, Gingival overgrowth, Cleft pa... ORPHA:480880
Floating-Harbor Syndrome
Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Tetralogy of Fallot, Wide... ORPHA:2044
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Cleft of chin, Low anterior hairline, Narrow palate, Abnormal heart mo... OMIM:101400
Primary Sclerosing Cholangitis
Type I diabetes mellitus, Amyloidosis, Thyroiditis ORPHA:171
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis OMIM:301220
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis ORPHA:98849
Familial Mediterranean Fever
Amyloidosis, Renal amyloidosis OMIM:249100
Q Fever
Amyloidosis ORPHA:781
Holoprosencephaly 2
Median cleft lip and palate, Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cl... OMIM:157170
Alström Syndrome
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... ORPHA:64
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... ORPHA:79318
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Craniofacial Microsomia 1
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Cleft palate... OMIM:164210
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Dental crowding, Cleft upper lip, High, narrow palate, Orofacial cleft, Ag... OMIM:309800
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Brain - developmental and structural abnormality Idetm1a(EUCOMM)Wtsi HOM Early adult
Brain - MPATH diagnostic term cyst Idetm1a(EUCOMM)Wtsi HOM Early adult
Testes - process of degenerative change Idetm1a(EUCOMM)Wtsi HOM Early adult
Brain - process of degenerative change Idetm1a(EUCOMM)Wtsi HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ide.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Idetm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Idetm1a(EUCOMM)Wtsi PMC6459510
Knockout of insulin-degrading enzyme leads to mice testicular morphological changes and impaired sperm quality. Molecular and cellular endocrinology (February 2019) Idetm1a(EUCOMM)Wtsi 30807788
Molecular characterization of mutant mouse strains generated from the EUCOMM/KOMP-CSD ES cell resource. Mammalian genome : official journal of the International Mammalian Genome Society (August 2013) Idetm1a(EUCOMM)Wtsi PMC3745610

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Idetm47938(L1L2_gt2_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Idetm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Idetm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Idetm47938(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Idetm47938(pL1L2_frt15_BetactinBSD_frt14_neo_Rox) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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