Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Idetm1a(EUCOMM)Wtsi HOM Early adult 6.83×10-06
abnormal incisor morphology Idetm1a(EUCOMM)Wtsi HOM Early adult 9.93×10-07
abnormal maxilla morphology Idetm1a(EUCOMM)Wtsi HOM Early adult 1.47×10-05
abnormal cranium morphology Idetm1a(EUCOMM)Wtsi HOM Early adult 1.89×10-06
increased circulating amylase level Idetm1a(EUCOMM)Wtsi HOM   Early adult 5.95×10-10
increased heart weight Idetm1a(EUCOMM)Wtsi HOM Early adult 6.43×10-05
abnormal hair texture Idetm1a(EUCOMM)Wtsi HOM Early adult 4.17×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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 0.72% (4 of 558)
aorta 0.18% (1 of 552)
blood vessel 0.0%
bone 0.0%
brain 0.73% (4 of 545)
brainstem 0.36% (2 of 548)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 552)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 545)
eye 0.0%
gall bladder 0.0%
heart 0.19% (1 of 540)
hippocampus 0.55% (3 of 548)
hypothalamus 0.36% (2 of 548)
kidney 3.52% (19 of 540)
large intestine 1.85% (10 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 558)
lung 0.18% (1 of 554)
lymph node 0.18% (1 of 549)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.36% (2 of 549)
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.74% (4 of 543)
parathyroid gland 0.19% (1 of 528)
peripheral nervous system 0.18% (1 of 548)
peyer's patch 0.61% (1 of 165)
pituitary gland 0.18% (1 of 556)
prostate gland 2.18% (12 of 550)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 551)
small intestine 1.64% (9 of 550)
spinal cord 0.54% (3 of 551)
spleen 0.54% (3 of 554)
stomach 1.83% (10 of 546)
striatum 0.55% (3 of 547)
testis 1.08% (6 of 553)
thymus 0.18% (1 of 547)
thyroid gland 2.95% (16 of 543)
trachea 0.55% (3 of 547)
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

5 Images

Legacy Phenotype Associated Images

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
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
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 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Testes, Rudimentary
Hypergonadotropic hypogonadism, Hypoplastic male external genitalia, Decreased testicular size OMIM:273150
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoketotic hypoglycemia, ... ORPHA:293964
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Witkop Syndrome
Small nail, Agenesis of permanent teeth, Fine hair, Nail pits, Microdontia of primary teeth, Spar... OMIM:189500
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Transient neonatal diabetes mellitus, Maternal diabetes, M... ORPHA:99886
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the nail, Agenesis of permanent teeth, Delayed eruption of teeth, Thin toenail, Hy... ORPHA:2228
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Pili Torti
Abnormality of the nail, Brittle hair, Pili torti, Abnormality of hair texture, Abnormal dental e... ORPHA:2889
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Widely spaced teeth, Microd... ORPHA:99798
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Isochromosomy Yq
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:98798
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Fasting hypoglycemia, Neonatal hypoglycemia, Excessi... ORPHA:324575
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... ORPHA:171706
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276580
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Trichodental Dysplasia
Brittle hair, Odontodysplasia, Conical tooth, Hypodontia, Fine hair, Slow-growing hair, Sparse hair OMIM:601453
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Yell... ORPHA:88661
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Pilodental Dysplasia With Refractive Errors
Abnormality of the nail, Brittle hair, Hypodontia, Sparse scalp hair, Conical incisor, Brittle sc... OMIM:262020
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Abnormal hair morphology, Abnormal toenail morphology, Fine hair... ORPHA:248
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Hypotrichosis 13
Sparse hair, Sparse eyebrow, Woolly hair OMIM:615896
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia ORPHA:79084
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Hypotrichosis 7
Sparse hair, Sparse eyebrow, Woolly hair, Sparse eyelashes OMIM:604379
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276575
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Fryns Macrocephaly
Short upper lip, Short philtrum, Everted lower lip vermilion, Knee flexion contracture, Thin uppe... OMIM:600302
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Abnormal insulin level, T... ORPHA:552
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Patchy alopecia, Coarse hair, Pili torti, Enamel hypoplasia, Hypoplastic toenails, Co... OMIM:613573
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Cleft upper lip, Hypodontia, Nail dysplasia, Sparse eyebrow, Abnormality of the phi... OMIM:225060
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Type II diabetes melli... OMIM:604367
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Pili ... ORPHA:2891
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Hypoplastic toenails, Everted lower lip vermilion, Yellow-brown discol... ORPHA:1028
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71526
Cleft Lip/Palate
Abnormal number of permanent teeth, Peg-shaped maxillary lateral incisors, Velopharyngeal insuffi... ORPHA:199306
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Hypodontia, Sparse eyebrow, Nail dysplasia, Fine hair, Slow-growing hair, Microdontia, Abnormalit... OMIM:129490
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Abnormality of the nail, Enamel hypomineralization,... ORPHA:3352
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Hypodontia, Microdontia, Fine hair, Inguinal hernia, Sparse hair ORPHA:1174
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Widely spaced teeth, Microdontia, Hypoplasia of the maxilla... OMIM:601216
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnormal response to glucagon stim... ORPHA:79644
Cerebellofaciodental Syndrome
Sparse eyebrow, Fine hair, Sparse hair, Dental malocclusion, Taurodontia, Macrodontia of permanen... OMIM:616202
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Sparse scalp hair, Sparse body hair, Trich... ORPHA:3361
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus at puberty, Hyper... ORPHA:280356
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Excessive insulin response to glucagon test, Recurrent hypoglycemia, React... ORPHA:276556
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Monilethrix
Abnormality of the nail, Patchy alopecia, Brittle hair, Abnormal eyelash morphology, Fine hair, S... ORPHA:573
Pili Torti, Early-Onset
Brittle hair, Coarse hair, Pili torti, Enamel hypoplasia, Hair shafts flattened at irregular inte... OMIM:261900
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Discolored lateral incisors, Conical mandibular incisor, Oligodontia, Joi... OMIM:601668
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormality of the dentition, Fine hair, Fragile nails ORPHA:500166
Trichodysplasia-Xeroderma
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Alopecia, Slow-growing hair, Sparse pubic ... OMIM:190360
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow mouth, High palate, Brittle hair, Flexion contracture, Loss of facial adipose tissue, Hype... OMIM:608612
Liang-Wang Syndrome
Downturned corners of mouth, Everted lower lip vermilion, Macroglossia, Synophrys, Thin upper lip... OMIM:618729
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Sparse scalp hair, Curly hair, Sparse hair OMIM:616760
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Split-Hand/Foot Malformation 3
Narrow mouth, High palate, Nail dysplasia, Nail dystrophy, Hypoplasia of the maxilla, Microretrog... OMIM:246560
Ectodermal Dysplasia 4, Hair/Nail Type
Brittle hair, Temporal hypotrichosis, Pili torti, Absent eyelashes, Congenital onychodystrophy, S... OMIM:602032
Intellectual Disability, Birk-Barel Type
Short philtrum, Contractures involving the joints of the feet, Open mouth, Tented upper lip vermi... ORPHA:166108
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Woolly hair OMIM:610476
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Trichodentoosseous Syndrome
Abnormal hair morphology, Microdontia, Widely spaced teeth, Fragile nails, Taurodontia OMIM:190320
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Long philtrum, Long eyelashes, Atrial septal defect, Incisor macrodontia, Thin verm... OMIM:615502
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia ORPHA:2089
Oculotrichodysplasia
Agenesis of permanent teeth, Widely spaced primary teeth, Sparse lateral eyebrow, Nail dysplasia,... OMIM:257960
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, In... ORPHA:2298
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Natal tooth, Abnormality of hair texture, Mandibular prognathia, ... OMIM:601957
Monilethrix
Brittle hair, Nail dysplasia, Nail dystrophy, Abnormality of hair texture, Alopecia, Sparse hair OMIM:158000
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Delayed eruption of teeth, Long philtrum, Fine hair, Hypoplasia of teeth, Micrognat... OMIM:257850
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Insulin-... ORPHA:179494
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Brittle hair, Woolly hair, Nail dysplasia, Hypoplasia of teeth, Trichorrhexis nodosa,... OMIM:234050
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Decreased testicular size, Abnormal sperm head morphology... ORPHA:320391
Progeroid Syndrome, Petty Type
Generalized hirsutism, Abnormality of the nail, Brittle hair, Umbilical hernia, Long eyelashes in... ORPHA:2963
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Kennedy Disease
Erectile dysfunction, Type II diabetes mellitus, Decreased fertility, Testicular atrophy ORPHA:481
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Sparse hair, Taurodontia OMIM:272980
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Supernumerary tooth, Sparse hair, Abnormality of the dentition, Uncombable hair ORPHA:1264
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Everted lower lip vermilion, Woolly hair OMIM:278200
Intellectual Disability And Myopathy Syndrome
Achilles tendon contracture, Widely-spaced maxillary central incisors, Thin upper lip vermilion, ... OMIM:619719
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Hyperinsulinemia ORPHA:791
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Otodental Dysplasia
Tooth ankylosis, Delayed eruption of teeth, Long philtrum, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Growth Hormone Insensitivity Syndrome
Abnormality of the nail, Delayed eruption of teeth, Hypercholesterolemia, Everted lower lip vermi... ORPHA:181393
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Dental crowding, Increased overbite, Enamel hypoplasia OMIM:600907
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Precocious puberty, Po... OMIM:246200
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size OMIM:614897
Naxos Disease
Cleft upper lip, Woolly hair, Abnormality of hair texture, Cardiomyopathy, Sparse scalp hair, Cur... ORPHA:34217
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Atkin-Flaitz Syndrome
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Maxillary late... ORPHA:1193
Ectodermal Dysplasia 7, Hair/Nail Type
Brittle hair, Sparse eyebrow, Dystrophic toenail, Onycholysis, Sparse eyelashes, Dystrophic finge... OMIM:614929
Pili Torti-Onychodysplasia Syndrome
Keloids, Brittle hair, Absent eyelashes, Congenital onychodystrophy, Sparse body hair, Absent eye... ORPHA:2890
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor, Tiger tail banding, Coarse hair OMIM:616390
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Lowry-Maclean Syndrome
Atrioventricular canal defect, Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Dela... ORPHA:2409
Clouston Syndrome
Small nail, Absent pubic hair, Brittle hair, Nail dysplasia, Sparse eyebrow, Fine hair, Slow-grow... OMIM:129500
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Taurodontia, Generalized microdontia OMIM:104530
Palmoplantar Keratoderma And Woolly Hair
Woolly hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse scalp hair, Leukonychia, ... OMIM:616099
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi OMIM:617252
Weaver Syndrome
Long philtrum, Hypoplastic toenails, Deep philtrum, Fine hair, Micrognathia, Thin nail, Inguinal ... ORPHA:3447
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hypergonadotropic hypogonadism, Hyperinsulinemia ORPHA:3085
Mandibulofacial Dysostosis With Alopecia
Trismus, Sparse eyebrow, Everted lower lip vermilion, Micrognathia, Hypoplasia of the maxilla, De... OMIM:616367
Carvajal Syndrome
Dilated cardiomyopathy, Woolly hair ORPHA:65282
Angioma Serpiginosum, X-Linked
Sparse hair, Fine hair, Nail dystrophy OMIM:300652
Otodental Syndrome
Abnormality of the maxilla, Delayed eruption of teeth, Long philtrum, Pulp calcification, Gingiva... ORPHA:2791
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hyperglycemia OMIM:220111
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Crandall Syndrome
Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Alopecia ORPHA:202
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Coarse hair, Carious teeth, Joint contracture of the 5th finger, Camptodactyly of f... ORPHA:1883
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Fasting hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell ... ORPHA:263455
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Oligodontia, Microdontia, Supernumerary tooth, Pili canaliculi, Uncombable hair OMIM:191482
Temtamy Preaxial Brachydactyly Syndrome
Microdontia, Deep philtrum, Highly arched eyebrow, Talon cusp, Synophrys, Diastema, Cleft palate OMIM:605282
Rapp-Hodgkin Syndrome
Small nail, Narrow mouth, Bifid uvula, Cleft upper lip, Velopharyngeal insufficiency, Conical too... OMIM:129400
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Maxillary lateral incisor microdonti... OMIM:300602
Temtamy Preaxial Brachydactyly Syndrome
Narrow mouth, Abnormal spaced incisors, Oligodontia, Hypodontia, Microdontia, Micrognathia, Abnor... ORPHA:363417
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Cardiofaciocutaneous Syndrome 2
High palate, Fine hair, Absent eyebrow, Curly hair, Sparse hair, Mitral valve prolapse OMIM:615278
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Coarse hair, Sparse eyebrow, Sparse eyelashes, Sparse hair OMIM:234030
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance OMIM:144600
Trichohepatoenteric Syndrome 2
Brittle hair, Woolly hair, Decreased serum iron, Sparse hair, Hepatomegaly, Trichorrhexis nodosa,... OMIM:614602
Frontonasal Dysplasia 1
Widow's peak, Tetralogy of Fallot, Hypoplastic frontal sinuses, Median cleft palate, Pericallosal... OMIM:136760
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Variant Abeta2M Amyloidosis
Amyloidosis of peripheral nerves, Cutaneous amyloidosis, Cardiac amyloidosis, Renal amyloidosis, ... ORPHA:314652
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Thick eyebrow, Hypoplasia of the maxilla, Smooth philtrum, Synophrys, Thi... OMIM:618737
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Short philtrum, Complete atrioventricular canal defect, Conical tooth, N... OMIM:619142
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, In... ORPHA:785
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Maxillary lateral incisor microdonti... OMIM:300431
Woolly Hair, Autosomal Dominant
Coarse hair, Woolly hair, Abnormal hair morphology, Slow-growing hair, Dry hair OMIM:194300
Marie Unna Hereditary Hypotrichosis
Coarse hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse or absent eyelashes, Sparse scal... ORPHA:444
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Sparse hair, Cardiomegaly, Enamel hypoplasia OMIM:613576
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Hypodontia, Agenesis of premolar, Selective tooth agenesis, Aplasia of the maxilla, ... OMIM:313500
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... ORPHA:49042
Cohen Syndrome
Short philtrum, Thick eyebrow, Open mouth, Micrognathia, High, narrow palate, Hypoplasia of the m... OMIM:216550
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Generalized lipodystrophy, Hypoplasia of the maxilla, Sparse facial hair, Sparse axillary hair, C... OMIM:608154
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow mouth, Narrow palate, Delayed eruption of teeth, Atrial septal defect, Oligodontia, Conica... OMIM:235510
Cutis Laxa, Autosomal Recessive, Type Iia
Narrow mouth, High palate, Lipodystrophy, Brittle hair, Coarse hair, Long philtrum, Carious teeth... OMIM:219200
Myeloma, Multiple
Amyloidosis OMIM:254500
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Ellis Van Creveld Syndrome
Abnormality of the nail, Thin vermilion border, Abnormal heart valve morphology, Delayed eruption... ORPHA:289
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atrophic, patchy alopecia, Atypical scarring of skin, Enamel hypoplasia, Scar... ORPHA:251393
Short Syndrome
Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Acrogeria
Fine hair, Micrognathia, Lipoatrophy ORPHA:2500
2Q32Q33 Microdeletion Syndrome
Narrow mouth, High palate, Long philtrum, Oligodontia, Fine hair, Micrognathia, Dental crowding, ... ORPHA:251019
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Maxillonasal Dysplasia
Open bite, Microdontia, Hypoplasia of the maxilla, Mandibular prognathia, Tooth agenesis, Cleft p... ORPHA:1248
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Bifid uvula, Enamel hypoplasia, Hypodontia, Mandibular prognathia, Dens in dente, Macrodontia, Lo... OMIM:263540
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Sparse eyebrow, Short eyelashes, Tooth agenesis, Sparse hair OMIM:150400
Pachyonychia Congenita 2
Nail dysplasia, Sparse eyebrow, Nail dystrophy, Natal tooth, Sparse scalp hair, Dry hair, Subungu... OMIM:167210
Trichothiodystrophy 8, Nonphotosensitive
Woolly hair, Long philtrum, Sparse eyebrow, Trichorrhexis nodosa, Retrognathia, Thin upper lip ve... OMIM:619691
Intellectual Disability, Buenos-Aires Type
High palate, Open bite, Fine hair, Abnormality of dental morphology, Hyperconvex thumb nails, Man... ORPHA:3079
Craniofrontonasal Dysplasia
Widow's peak, High palate, Woolly hair, Camptodactyly of finger, Congenital diaphragmatic hernia,... ORPHA:1520
Craniolenticulosutural Dysplasia
High palate, Brittle hair, Delayed eruption of teeth, Coarse hair, Long philtrum, Carious teeth, ... ORPHA:50814
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Submucous cleft soft palate, Coarse hair, Delayed eruption of teeth, Hyperconvex fingernails, Non... ORPHA:1071
Sulfite Oxidase Deficiency, Isolated
Elevated circulating creatine kinase concentration, Fine hair, Delayed eruption of teeth OMIM:272300
Tonne-Kalscheuer Syndrome
Small nail, Narrow mouth, Velopharyngeal insufficiency, Fine hair, Micrognathia, Congenital diaph... OMIM:300978
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Abnormal palate morphology, Abnormal tricuspid valve morphology, Prominence of the ... ORPHA:2412
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Brittle hair, Bifid uvula, Long eyelashes, Thick eyebrow, Open mouth, Supernumerary ... OMIM:617412
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Short philtrum, Frontal balding, Mandibular prognathia ORPHA:93945
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Long philtrum, Sparse lateral eyebrow, Thin eyebrow, Carious teeth, Mi... OMIM:190350
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Hall-Riggs Syndrome
Coarse hair, Delayed eruption of teeth, Slow-growing hair, Thick hair, Wide mouth, Abnormal denta... ORPHA:2107
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla, Elbow flexion contracture, Knee flexion contracture OMIM:259610
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Lipoatrophy, Micrognathia, Hypoplasia of the maxilla, Sparse hair, Thi... OMIM:601812
Bazex-Dupré-Christol Syndrome
Coarse hair, Pili torti, Sparse eyebrow, Trichorrhexis nodosa, Sparse or absent eyelashes, Sparse... ORPHA:113
Hawkinsinuria
Sparse hair, Fine hair, Abnormal circulating tyrosine concentration ORPHA:2118
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Short philtrum, Thin vermilion border, Premature loss of teeth OMIM:156510
Hypotrichosis 6
Brittle hair, Pili torti, Sparse eyebrow, Sparse eyelashes, Sparse hair OMIM:607903
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Open mouth, Sparse eyebrow, Onychogryposis of toenails, Dental crowding, Shovel-shaped maxillary ... OMIM:600906
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Impaired glucose tolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:248370
Galactokinase Deficiency
Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia ORPHA:79237
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Abnormal toenail morphology, Fine hair, Ungual fibroma, Sparse or absent ey... ORPHA:1433
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Hypogonadotropic hypogonadism, Decreased serum testosterone concentration, Testic... ORPHA:465508
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Tooth agenesis, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Woolly hair OMIM:605676
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Diabetes mellitus, Postprandial hyperglycemia, Impaired glucose... ORPHA:2088
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal palate morphology, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Hernia o... ORPHA:3082
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Absent pubic hair, Fine hair, Hypoplasia of the maxilla, Hypoplastic nipples, Sparse eyelashes, D... OMIM:211370
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patchy alopecia, Cleft upper lip, Conical tooth, Absent eyelashes, Supernumerary nipple, Widely s... OMIM:106260
Cleft Velum
Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Broad eyebrow, Synophrys OMIM:618302
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Lujan-Fryns Syndrome
High palate, Short philtrum, Camptodactyly of finger, Atrial septal defect, Micrognathia, Hypopla... ORPHA:776
Dwarfism, Familial, With Muscle Spasms
Fine hair, Brittle scalp hair, Sparse scalp hair OMIM:600771
Trichodermodysplasia-Dental Alterations Syndrome
Brittle hair, Delayed eruption of teeth, Sparse lateral eyebrow, Aplasia/Hypoplasia of the eyebro... ORPHA:3353
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Cerebellar-Facial-Dental Syndrome
Long philtrum, Contractures involving the joints of the feet, Sparse eyebrow, Fine hair, Microgna... ORPHA:444072
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic toenail, Sparse eyebrow, Fine hair, Alopecia, Dystrophic fingernails, Sparse scalp hair ORPHA:1882
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Insulin resistance, Increased pineal... ORPHA:769
Nablus Mask-Like Facial Syndrome
Narrow mouth, High palate, Long philtrum, Abnormality of the dentition, Sparse eyebrow, Highly ar... OMIM:608156
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita OMIM:601809
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Widely spaced primary teeth, Slow-growing hair, Mandibular prognathia, Sparse hair,... OMIM:300953
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Fine hair, Mandibular prognathia, Sparse scalp hair ORPHA:2324
Aarskog-Scott Syndrome
Cleft upper lip, Long philtrum, Delayed eruption of teeth, Camptodactyly of finger, Everted lower... ORPHA:915
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Narrow mouth, Short philtrum, Long philtrum, Oligodontia, Fine hair, Hypoplasia of teeth, Microgn... ORPHA:391408
Nance-Horan Syndrome
Supernumerary maxillary incisor, Mulberry molar, Diastema, Screwdriver-shaped incisors OMIM:302350
Bjornstad Syndrome
Brittle hair, Coarse hair, Pili torti, Alopecia, Hair shafts flattened at irregular intervals and... OMIM:262000
Odontoonychodermal Dysplasia
Agenesis of permanent teeth, Smooth tongue, Abnormality of primary teeth, Hypodontia, Dystrophic ... OMIM:257980
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Hypomandibular Faciocranial Dysostosis
Aglossia, Atrial septal defect, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Pursed... OMIM:241310
Noonan Syndrome 5
Small nail, Atrial septal defect, Sparse eyebrow, Hypertrophic cardiomyopathy, Fine hair, Pulmoni... OMIM:611553
20P12.3 Microdeletion Syndrome
Narrow mouth, Long philtrum, Atrial septal defect, Hypoplasia of the maxilla, Malar flattening ORPHA:261295
Distal Trisomy 6P
Narrow mouth, Hernia, Abnormal eyelash morphology, Fine hair, Micrognathia, Thin vermilion border... ORPHA:1745
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Cryptorchidi... OMIM:300200
Leopard Syndrome 2
Curly hair, Hypertrophic cardiomyopathy, Thick lower lip vermilion, Mandibular prognathia OMIM:611554
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, High palate, Patchy alopecia, Camptodactyly of finger ORPHA:85279
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Costello Syndrome
Narrow palate, Woolly hair, Hypoplastic toenails, Abnormal hair morphology, Thick lower lip vermi... ORPHA:3071
Peeling Skin Syndrome 1
Abnormality of hair texture, Brittle hair, Onycholysis OMIM:270300
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Microcephaly-Capillary Malformation Syndrome
Small nail, Patent foramen ovale, Atrial septal defect, Hypoplasia of the maxilla, Ventricular se... OMIM:614261
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Fine hair, Abnormal palate morphology ORPHA:3236
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Woolly hair, Tooth agenesis, Nail dystrophy, Fragile nails, Leukonychia, ... OMIM:615821
X-Linked Intellectual Disability Due To Gria3 Mutations
Short upper lip, Short philtrum, Open mouth, Malar flattening, Mandibular prognathia, Narrow pala... ORPHA:364028
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla OMIM:608432
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Congenital Generalized Lipodystrophy
Precocious puberty in females, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:528
Bazex Syndrome
Coarse hair, Pili torti, Trichorrhexis nodosa, Trichoepithelioma, Sparse hair, Abnormality of the... OMIM:301845
Hypotrichosis 12
Aplasia/Hypoplasia of the eyebrow, Slow-growing hair, Sparse or absent eyelashes, Sparse hair, Dr... OMIM:615885
Orofaciodigital Syndrome Type 2
Tongue nodules, High palate, Submucous cleft soft palate, Unilateral alveolar cleft of maxilla, P... ORPHA:2751
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Lipodystrophy, Familial Partial, Type 2
Type II diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:151660
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Sabinas Brittle Hair Syndrome
Brittle hair, Nail dysplasia, Nail dystrophy, Sparse hair, Dry hair OMIM:211390
Cranioectodermal Dysplasia
Hypodontia, Abnormal toenail morphology, Everted lower lip vermilion, Microdontia, Abnormal denta... ORPHA:1515
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow, Slow-growing hair, Trichor... ORPHA:238468
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Brittle hair, Coarse hair, Long philtrum, Atrial septal defect, Everted lower lip vermilion, Nail... ORPHA:75389
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Crowded maxillary incisors, Mandibular prognathia ORPHA:397973
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Nail dysplasia, Sparse eyebrow, Alopecia, Leukonychia, Sparse hair OMIM:104100
19Q13.11 Microdeletion Syndrome
Solitary median maxillary central incisor, Sparse lateral eyebrow, Supernumerary nipple, Nail dys... ORPHA:217346
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Fine hair, Pili torti, Sparse scalp hair ORPHA:1573
Kagami-Ogata Syndrome
Flexion contracture, Long philtrum, Frontal hirsutism, Atrial septal defect, Splenomegaly, Hepato... OMIM:608149
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Narrow philtrum, Abnormal palate morphology, Multiple rows of eyelashes, Long philtrum, Thick eye... ORPHA:163654
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Acrofacial Dysostosis, Catania Type
Abnormal palate morphology, Coarse hair, Abnormal hair pattern, Carious teeth, Inguinal hernia, M... ORPHA:1786
Oculodentodigital Dysplasia
Broad alveolar ridges, Cleft upper lip, Enamel hypoplasia, Atrial septal defect, Carious teeth, M... OMIM:164200
Axenfeld-Rieger Syndrome, Type 2
Short philtrum, Hypodontia, Microdontia, Everted lower lip vermilion, Hypoplasia of the maxilla, ... OMIM:601499
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Hyperglycemia ORPHA:90065
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Hypokalemia, Enamel hypoplasia, Prominent frontal sinuses, Oligodontia, Antegonial n... OMIM:170390
Mucopolysaccharidosis, Type Iiib
Coarse hair, Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Synophrys, Cardiomegaly, ... OMIM:252920
Mandibuloacral Dysplasia
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Short philtrum, Long eyelashes, Fine hair, High anterior hairline, Thin upper lip vermilion, Down... ORPHA:231137
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
Intellectual Developmental Disorder, Autosomal Dominant 34
Coarse hair, Drooling, Widely spaced teeth, Smooth philtrum, Synophrys, Curly hair OMIM:616351
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Fine hair, Macroglossia, Abnormal eyebrow morpho... ORPHA:2221
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Onychogryposis of toenails, Sparse hair, Dry hair, Coarse hair OMIM:164680
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Pili torti, Sparse eyebrow, Curly hair, Sparse hair OMIM:602400
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Abnormality of hair texture, Elevated circulating creati... ORPHA:88618
Trichothiodystrophy 1, Photosensitive
Small nail, Brittle hair, Flexion contracture, Pili torti, Fine hair, Trichorrhexis nodosa, Nail ... OMIM:601675
Koolen-De Vries Syndrome
Hypopigmentation of hair, Hypodontia, Everted lower lip vermilion, Microdontia, High, narrow pala... ORPHA:96169
Gorlin-Chaudhry-Moss Syndrome
Generalized hirsutism, Coarse hair, Oligodontia, Hypoplasia of the maxilla, Low anterior hairline... ORPHA:2095
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Open mouth, Deep philtrum, Prominence of the premaxilla, Everted lower lip vermilion OMIM:137550
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Mitral valve prolapse, Long philtrum, Cleft palate ORPHA:90653
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93950
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Narrow mouth, Short philtrum, Thin upper lip vermilion, Atrial septal defect, Ventricular septal ... OMIM:617360
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Pierre-Robin sequence, Brittle hair, Patent foramen ovale, Enamel hypoplasia, Misalignment of inc... OMIM:619184
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, ... OMIM:615279
Distal Monosomy 19P13.3
Short philtrum, Vaginal hernia, Keloids, Thick eyebrow, Tricuspid valve prolapse, Hypoplasia of t... ORPHA:96129
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hernia, Everted lower lip vermilion, Splenomegaly, Hepatomegaly, Asymmetric septal h... OMIM:252930
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Camptodactyly of finger, Narrow mouth ORPHA:1529
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Absent nipple, Absent eyelashes, Conical tooth, Hypodontia, Aplasia/Hypoplastia of ... OMIM:305100
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Long philtrum, Absent eyelashes, Thick eyebrow, Highly arched eyebrow, Hypoplasia of the maxilla,... ORPHA:228396
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Mitchell-Riley Syndrome
Hyperglycemia OMIM:615710
Mucopolysaccharidosis, Type Iiia
Coarse hair, Splenomegaly, Hepatomegaly, Inguinal hernia, Asymmetric septal hypertrophy, Synophry... OMIM:252900
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Lipomas of eyelids, Widow's peak, Multiple lipomas OMIM:167730
Orofacial Cleft 15
Bilateral cleft lip, Sparse eyebrow, Sparse eyelashes, Palate fistula, High anterior hairline, Bi... OMIM:616788
8Q22.1 Microdeletion Syndrome
Long philtrum, Camptodactyly of finger, Sparse eyebrow, Abnormal hair pattern, Highly arched eyeb... ORPHA:178303
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Tiger tail banding OMIM:618546
Pycnodysostosis
High palate, Abnormality of the nail, Hepatosplenomegaly, Enamel hypoplasia, Hypodontia, Carious ... ORPHA:763
Dend Syndrome
Hyperglycemia ORPHA:79134
Zellweger-Like Syndrome Without Peroxisomal Anomalies
High palate, Brittle hair, Hepatomegaly, Alopecia ORPHA:50812
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Lipodystrophy, High palate, Coarse hair, Long philtrum, Carious teeth, Thick hair, Inguinal herni... ORPHA:357074
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Narrow mouth, Brittle hair, Hypertrophic cardiomyopathy, Sparse eyebrow, Hepatomegaly, Micrognath... OMIM:618810
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Narrow mouth, Oligodontia, Fine hair, Micrognathia, Sparse hair, Downturned corners of mouth OMIM:616817
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Hypodontia, Everted lower lip vermilion, Gingival bleeding, Micrognathia, Gingival hyperkeratosis... OMIM:225410
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia ORPHA:134
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia,... ORPHA:71212
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Congenital diaphragmatic hernia, Micrognathia OMIM:166300
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Coarse hair, Reduced subcutaneous adipose tissue OMIM:248010
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Long philtrum, Thick eyebrow, Hypoplastic sweat glands, Micrognathia, Maxillary lateral incisor m... ORPHA:73223
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Malan Syndrome