Gene Summary

Name:
MARVEL (membrane-associating) domain containing 2
Synonyms:
Tric,  Mrvldc2,  Tric-a,  Tricellulin,  Tric-b,  Tric-c

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 prepulse inhibition Marveld2tm1b(EUCOMM)Wtsi HOM Early adult 1.44×10-31
decreased startle reflex Marveld2tm1b(EUCOMM)Wtsi HOM Early adult 1.01×10-06
enlarged heart Marveld2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal startle reflex Marveld2tm1b(EUCOMM)Wtsi HOM Early adult 6.55×10-17
abnormal auditory brainstem response Marveld2tm1b(EUCOMM)Wtsi HOM   Early adult 9.88×10-07
abnormal ear morphology Marveld2tm1b(EUCOMM)Wtsi HOM Early adult 1.18×10-15

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 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
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 100% (2 of 2)
Cerebral cortex N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 50% (1 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 50% (1 of 2)
Oral epithelium N/A heterozygote 50% (1 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 50% (1 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 50% (1 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 50% (1 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 50% (1 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 50% (1 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 50% (1 of 2)
Head N/A heterozygote 50% (1 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 100% (2 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote 50% (1 of 2)

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%
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%
esophagus 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%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Echo

M-Mode Images

28 Images

Adult LacZ

LacZ Images Wholemount

22 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Marveld2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Marveld2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 49
Prelingual sensorineural hearing impairment OMIM:610153

The table below shows human diseases predicted to be associated to Marveld2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Pendred Syndrome
Abnormal vestibular function, Goiter, Congenital sensorineural hearing impairment, Thyroid carcin... OMIM:274600
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Goiter, Sensorineural ... OMIM:600791
Pendred Syndrome
Nephropathy, Hyperparathyroidism, Goiter, Vertigo, Thyroid carcinoma, Sensorineural hearing impai... ORPHA:705
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Benign Schwannoma
Nasal polyposis, Vertigo, Abnormality of the liver, Abnormal cranial nerve morphology, Vestibular... ORPHA:252164
Brooke-Spiegler Syndrome
Hearing impairment, Abnormality of the submandibular glands, Salivary gland neoplasm, Abnormal au... ORPHA:79493
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Ethanolaminosis
Cardiomegaly OMIM:227150
Hernández-Aguirre Negrete Syndrome
Low-set, posteriorly rotated ears, Bulbous nose, Obesity, Deep philtrum, Delayed puberty, EEG abn... ORPHA:2139
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology, Sensorineural hearing impairment ORPHA:3225
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Hearing impairment, Elevated circulating thyroid-stimulating hormone c... OMIM:274300
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis, Hepatic amyloidosis, Abnormal skeletal muscle morpholo... ORPHA:314652
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Sensorineural hearing impairment, Enlarged vestibular aqueduct... OMIM:113650
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Meckel Syndrome, Type 8
Low-set ears, Depressed nasal ridge, Cleft upper lip, Hyperechogenic kidneys, Cleft palate, Peric... OMIM:613885
Autism, Susceptibility To, X-Linked 6
Obesity, Underdeveloped nasal alae OMIM:300872
Thyrocerebrorenal Syndrome
Nephritis, Euthyroid goiter, Renal insufficiency, Sensorineural hearing impairment, Abnormality o... ORPHA:3327
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism, Hearing impairment OMIM:228355
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Sensorineural hearing impairment, Weakness of facia... OMIM:617519
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Global ... ORPHA:52368
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, Recurrent otitis media, Splenomegaly, Otitis... OMIM:608971
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Hypodontia, Obesity, Hearing impairment OMIM:620270
11P15.4 Microduplication Syndrome
Long philtrum, Anteverted nares, Obesity, Increased overbite, Smooth philtrum, Posteriorly rotate... ORPHA:300305
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Hearing impairment, ... OMIM:303110
Thyrocerebroretinal Syndrome
Nephritis, Skeletal muscle atrophy, Goiter, Sensorineural hearing impairment, Thrombocytopenia OMIM:274240
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Bardet-Biedl Syndrome 16
Renal agenesis, Hearing impairment, Recurrent otitis media, Hypogonadism, Obesity, Stage 5 chroni... OMIM:615993
Deafness, Autosomal Recessive 49
Prelingual sensorineural hearing impairment OMIM:610153
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Depressed nasal bridge, Elevated circul... ORPHA:95716
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Hearing impairment, Hypogonadism, Obesity, Renal insuff... OMIM:615996
Ciliary Dyskinesia, Primary, 37
Hearing impairment, Goiter, Situs inversus totalis, Chronic rhinitis, Hypothyroidism, Dextrocardia OMIM:617577
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Atrophy/Degeneration affecting the brains... ORPHA:99852
Al Amyloidosis
Xerostomia, Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morpholog... ORPHA:85443
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen... OMIM:615285
Galactosemia Iii
Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Sensorineural hearing impairment, H... OMIM:230350
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Broad nasal tip, Hearing impairment, Long philtrum, Thick lower lip vermilion, Tall stature, Larg... ORPHA:137634
Aa Amyloidosis
Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Abnormal oral mucosa... ORPHA:85445
Mehmo Syndrome
Male hypogonadism, Broad nasal tip, Cleft lip, Long philtrum, Widely spaced teeth, Decreased resp... OMIM:300148
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage... OMIM:617610
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Distal amyotrophy, Decreased motor ne... OMIM:601596
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo... OMIM:615382
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly... ORPHA:93476
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Thick lower lip vermilion, Bulbous nose, Obesity, Bilateral sensorineural hearing impairment, Mac... OMIM:300238
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase co... OMIM:608836
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Simpson-Golabi-Behmel Syndrome, Type 2
Low-set ears, Recurrent upper respiratory tract infections, Obesity, High palate OMIM:300209
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Clark-Baraitser Syndrome
Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Large earlobe, ... OMIM:617752
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Myopathy, Sensorineural hearing impairment, Absent brainstem audit... ORPHA:1215
Smith-Magenis Syndrome
Wide nasal bridge, Abnormal nerve conduction velocity, Abnormality of the outer ear, Abnormality ... OMIM:182290
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Polycythemia, Large for gestational age,... OMIM:600501
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Intellectual Developmental Disorder, X-Linked 97
Obesity, Macrotia OMIM:300803
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Low-set, posteriorly rotated ears, Obesity, Cryptorchidism, Aplasia/Hypoplasia of the testes, Hyp... ORPHA:3055
Foxp1 Syndrome
Hypoplastic helices, Recurrent upper respiratory tract infections, Broad nasal tip, Failure to th... ORPHA:391372
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Hearing impairment, Ascites, Failure to ... ORPHA:858
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic steat... OMIM:617303
Laurence-Moon Syndrome
Low-set, posteriorly rotated ears, Obesity, Renal insufficiency, Cryptorchidism, Congenital hepat... ORPHA:2377
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Depressed nasal bridge, Anteverted nares, Large for gestational age, Nephroblastoma, Overgrowth, ... OMIM:618272
Mehmo Syndrome
Downturned corners of mouth, Large earlobe, Obesity, Cryptorchidism, EEG abnormality, Thick vermi... ORPHA:85282
Spinocerebellar Ataxia, Autosomal Recessive 20
Wide nasal base, Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, Oligosacchari... OMIM:616354
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Intellectual Developmental Disorder, X-Linked 91
Obesity, Short nose OMIM:300577
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Atkin-Flaitz Syndrome
Abnormality of the dentition, Broad nasal tip, Anteverted nares, Obesity, Everted lower lip vermi... ORPHA:1193
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Beckwith-Wiedemann Syndrome
Nephropathy, Hearing impairment, Abnormal earlobe morphology, Tall stature, Cryptorchidism, Conge... ORPHA:116
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Hearing impairment, Pursed lips, Narrow mouth, Cryptorchidism, Hip... OMIM:193700
Temple Syndrome
Precocious puberty, Depressed nasal bridge, Bifid uvula, Maturity-onset diabetes of the young, Re... OMIM:616222
Acrocephalopolydactylous Dysplasia
Low-set ears, Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Abnormal pinna morpholog... OMIM:200995
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Abnormal lymph node morphology, Papillary renal cell carcinoma, Chronic noninfectious lym... ORPHA:97290
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Low-set ears, Depressed nasal bridge, Broad nasal tip, Hearing impairment, Long philtrum, Bulbous... ORPHA:480907
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Beta-Mercaptolactate Cysteine Disulfiduria
Hypoplasia of the ear cartilage, Low-set, posteriorly rotated ears, Abnormality of the ureter, An... ORPHA:1035
15Q24 Microdeletion Syndrome
Wide nasal base, Abnormality of the outer ear, Hearing impairment, Narrow mouth, Cryptorchidism, ... ORPHA:94065
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Papillary renal cell carcin... ORPHA:319487
Acromegaloid Facial Appearance Syndrome
Thick nasal alae, Bulbous nose, Large for gestational age OMIM:102150
Neurooculocardiogenitourinary Syndrome
Low-set ears, Downturned corners of mouth, Bilateral cryptorchidism, Prominent nasal bridge, Pate... OMIM:618652
Intellectual Developmental Disorder With Autism And Macrocephaly
Wide nasal bridge, Long philtrum, Tall stature, Open mouth, Overweight, Posteriorly rotated ears,... OMIM:615032
Diaphanospondylodysostosis
Low-set ears, Depressed nasal ridge, Depressed nasal bridge, Nephrogenic rest, Nephroblastomatosi... OMIM:608022
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Cardiomegaly, Left ventricul... ORPHA:79330
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Low-set ears, Bifid uvula, Failure to thrive, Camptodactyly of finger, Atrioventricular canal def... ORPHA:3047
Brain-Lung-Thyroid Syndrome
Failure to thrive, Megacystis, Elevated circulating thyroid-stimulating hormone concentration, Co... ORPHA:209905
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Adrenocortical cytomegaly, Renal cortic... OMIM:130650
7Q31 Microdeletion Syndrome
Low-set ears, Galactosuria, Enuresis nocturna, Skeletal muscle atrophy, Long philtrum, Childhood ... ORPHA:251061
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Hearing impairment, Failure to thrive, Recurrent otitis media, Splenomegal... ORPHA:397596
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Distal amyotrophy, Hearing impairment, Decreased nerve condu... OMIM:601455
Pallister-Hall Syndrome
Natal tooth, Atresia of the external auditory canal, Cryptorchidism, Ventricular septal defect, A... OMIM:146510
Cowden Syndrome 5
Colonic diverticula, Thyroid adenoma, Hearing impairment, Goiter, Furrowed tongue, Narrow mouth, ... OMIM:615108
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Long philtrum, Recurrent otitis me... ORPHA:589905
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Long philtrum, Recurrent otitis media, Lymphopenia, Obesity, Large for ge... OMIM:605309
Alg9-Cdg
Low-set ears, Hypoplasia of the musculature, Large fleshy ears, Ventricular septal defect, Atrial... ORPHA:79328
H Syndrome
Hearing impairment, Cleft upper lip, Histiocytosis, Hypogonadism, Decreased testicular size, Hepa... ORPHA:168569
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Hearing impairment, Cholestasis, Elevated circulatin... OMIM:619658
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Low-set ears, Depressed nasal bridge, Renal hypoplasia, Renal agenesis, Cerebral atrophy, Long ph... ORPHA:171839
Rafiq Syndrome
Low-set ears, Wide nasal bridge, Bulbous nose, Prominent nose, Obesity, Underdeveloped nasolabial... OMIM:614202
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Wide nasal bridge, Cerebral cortical atrophy, Downturned corners of mouth, Large fleshy ears, Obe... ORPHA:352530
Joubert Syndrome 37
Low-set ears, Wide nasal bridge, Decreased testicular size, Anteverted nares, Obesity, Cryptorchi... OMIM:619185
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age, Median cleft palate ORPHA:2432
Trisomy 10P
Low-set ears, Decreased muscle mass, Absent gallbladder, Abnormality of the kidney, High palate, ... ORPHA:171929
Infantile Sialic Acid Storage Disease
Failure to thrive, Cerebral atrophy, Ascites, Anteverted nares, Gingival overgrowth, Splenomegaly... OMIM:269920
Mccune-Albright Syndrome
Renal phosphate wasting, Hearing impairment, Increased circulating prolactin concentration, Incre... ORPHA:562
Chung-Jansen Syndrome
Long philtrum, Large earlobe, Anteverted nares, Obesity, Cryptorchidism, Short philtrum, Short no... OMIM:617991
Cowden Syndrome 6
Colonic diverticula, Thyroid adenoma, Hearing impairment, Goiter, Furrowed tongue, Narrow mouth, ... OMIM:615109
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Depressed nasal bridge, Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy... OMIM:619260
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Xerostomia, Hearing impairment, Ureterocele, Cryptorchidism, Absence of Stensen du... OMIM:604292
Intellectual Developmental Disorder, Autosomal Dominant 72
Low-set ears, Renal hypoplasia, Bulbous nose, Tall stature, Obesity, Facial hypotonia, Thin upper... OMIM:620439
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocar... OMIM:306955
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Long philtrum, Thin upper lip vermilion, Optic disc pallor, ... OMIM:617523
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid... ORPHA:64744
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Anosmia, Distal amyotrophy, Hearing impairment, Cerebral atrophy, Decreased nerve conduction velo... OMIM:609136
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H... OMIM:615415
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Depressed nasal bridge, Pyloric stenosis, Bifid uvula, Maturity-onset diabete... ORPHA:96184
Intellectual Developmental Disorder, Autosomal Dominant 52
Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Bilateral cryptorchidism, Prom... OMIM:617796
Mast Cell Sarcoma
Mastocytosis, Hypoplasia of the ear cartilage, Splenomegaly, Weight loss, Lymphadenopathy, Hepato... ORPHA:66661
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Thin upper lip vermilion, Enamel hypoplasia, Macrotia OMIM:613576
Transaldolase Deficiency
Low-set ears, Hepatosplenomegaly, Pancytopenia, Ventricular septal defect, Cirrhosis, Atrial sept... OMIM:606003
Trisomy 5P
Protruding ear, Obesity, Hypoplasia of penis, Renal hypoplasia/aplasia ORPHA:1742
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepato... ORPHA:731
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Hearing impairment, Heparan sulfate excretion in ur... OMIM:252920
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepati... OMIM:300280
Oculoskeletodental Syndrome
Wide nasal bridge, Protein-losing enteropathy, Broad columella, Hearing impairment, Renal agenesi... OMIM:618440
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated colle... OMIM:129900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Borjeson-Forssman-Lehmann Syndrome
Obesity, Cryptorchidism, Delayed puberty, EEG abnormality, Micropenis, Macrotia OMIM:301900
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:101085
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... OMIM:619326
Aredyld Syndrome
Type I diabetes mellitus, Low-set, posteriorly rotated ears, Abnormality of the ureter, Abnormal ... ORPHA:1133
Cowden Syndrome 1
Colonic diverticula, Thyroid adenoma, Hearing impairment, Goiter, Furrowed tongue, Lymphopenia, N... OMIM:158350
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Depressed nasal bridge, Carious teeth, Organic aciduria, Long philtrum, Large earlobe, Bulbous no... OMIM:620191
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Depressed nasal ridge, Renal hypoplasia, Long philtrum, Anteverted nares, Obesity, Vesicoureteral... ORPHA:464288
Treacher Collins Syndrome 1
Choanal atresia, Conductive hearing impairment, Atresia of the external auditory canal, Abnormal ... OMIM:154500
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Optic nerve compre... ORPHA:79078
Neuraminidase Deficiency
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascite... OMIM:256550
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone concentration, Goiter, D... ORPHA:226313
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
X-Linked Intellectual Disability, Stevenson Type
Broad columella, Thick nasal alae, Tall stature, Obesity, Tented upper lip vermilion, Microdontia... ORPHA:85325
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Cockayne Syndrome Type 1
Optic atrophy, Abnormality of the dentition, Elevated circulating hepatic transaminase concentrat... ORPHA:90321
Lacrimoauriculodentodigital Syndrome
Low-set ears, Carious teeth, Xerostomia, Cryptorchidism, Sensorineural hearing impairment, Abnorm... ORPHA:2363
Hyperparathyroidism, Transient Neonatal
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Unilateral renal agenesis, Hyperparathyr... OMIM:618188
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Low-set ears, Hearing impairment, Everted upper lip vermilion, Widely spaced teeth, Anteverted na... OMIM:619056
Helsmoortel-Van Der Aa Syndrome
Low-set ears, Carious teeth, Ankyloglossia, Cryptorchidism, Mitral valve prolapse, Everted lower ... OMIM:615873
Alpha-N-Acetylgalactosaminidase Deficiency
Cerebral cortical atrophy, Hearing impairment, Oligosacchariduria, Vertigo, Cardiomegaly, Thick v... ORPHA:3137
Microtriplication 11Q24.1
Hearing impairment, Obesity, Attached earlobe, Smooth philtrum, Irregularly spaced teeth, Short p... ORPHA:289522
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Carious teeth, Bilateral conductive hearing impairment, Atresia of the external aud... OMIM:620186
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Large for gestat... ORPHA:500095
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Macrotia OMIM:300886
Autosomal Dominant Progressive External Ophthalmoplegia
Hearing impairment, Limb muscle weakness, Myopathy, Hypomimic face, Quadriceps muscle weakness, G... ORPHA:254892
Hypogonadotropic Hypogonadism 27 Without Anosmia
Anosmia, Obesity OMIM:619755
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Decreased body ... ORPHA:2298
Scheie Syndrome
Abnormal nerve conduction velocity, Splenomegaly, Sensorineural hearing impairment, Mucopolysacch... ORPHA:93474
Graves Disease
Abnormal abdomen morphology, Graves disease, Goiter, Increased circulating free T3, Weight loss, ... OMIM:275000
19P13.12 Microdeletion Syndrome
Low-set ears, Precocious puberty, Conductive hearing impairment, Arthrogryposis multiplex congeni... ORPHA:254346
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Abnormal mesentery morphology, Urethritis, Hematuria, Weig... ORPHA:449395
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Downturned corners of mouth, Low-set, posteriorly rotated ears, Abnormal hear... ORPHA:254525
13Q12.3 Microdeletion Syndrome
Hearing impairment, Underdeveloped nasal alae, Failure to thrive, Obesity, Cryptorchidism, Congen... ORPHA:412035
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Depressed nasal bridge, Contractures of the large joints, Bulbous nose, Pr... ORPHA:324410
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Obesity, Overweight, Hearing impairment OMIM:614651
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Goiter, Pancytopenia, Convex nasal ridge, Primary gonadal in... OMIM:210740
Fucosidosis
Abnormality of the dentition, Hearing impairment, Failure to thrive, Decreased muscle mass, Abnor... ORPHA:349
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Abnormal autonomic nervous system ph... ORPHA:83601
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Apert Syndrome
Optic atrophy, Choanal atresia, Depressed nasal bridge, Conductive hearing impairment, Bifid uvul... ORPHA:87
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Obesity, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Obesity, Short ... ORPHA:254531
6Q16 Microdeletion Syndrome
Low-set ears, Depressed nasal bridge, Bulbous nose, Anteverted nares, Obesity, Abnormal ear morph... ORPHA:171829
Sotos Syndrome
Low-set ears, Tall stature, Cryptorchidism, Ventricular septal defect, Increased body weight, Atr... OMIM:117550
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Ascites, Renal insufficiency, Increased ... ORPHA:890
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hearing impairment, Supernumerary nipple, Birth length greater ... OMIM:312870
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Hearing impairment, Cryptorchidism, Protruding tongue, Everted lower lip v... ORPHA:96147
Ogden Syndrome
Low-set ears, Flared nostrils, Everted upper lip vermilion, Recurrent otitis media, Thick upper l... OMIM:300855
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Sensorineural hearing i... OMIM:203800
Joubert Syndrome 32
Depressed nasal bridge, Tall stature, Large for gestational age, Hypertrophic cardiomyopathy OMIM:617757
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Hearing impairment, Situs inversus totalis, Otitis media, Dextrocardia, Absent i... OMIM:606763
Summitt Syndrome
Depressed nasal ridge, Camptodactyly of finger, Tall stature, Obesity, Wide nose ORPHA:3210
Leprechaunism
Low-set ears, Megarectum, Nephrocalcinosis, Long penis, Skeletal muscle atrophy, Failure to thriv... ORPHA:508
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
X-Linked Intellectual Disability, Shashi Type
Bulbous nose, Obesity, Everted lower lip vermilion, Macroorchidism, Macrotia ORPHA:85286
Immunodeficiency 61
Recurrent otitis media, Obesity, Recurrent sinusitis OMIM:300310
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Hearing impairment, Tooth agenesis, Obesity, Hip contracture, Amelogenesis imperfe... OMIM:618363
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Obesity OMIM:615984
Ascher Syndrome
Goiter, Abnormal upper lip morphology, Hypothyroidism, High palate, Wide nose ORPHA:1253
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Low-set ears, Depressed nasal bridge, Nephrocalcinosis, Abnormality of the dentition, Cerebellar ... OMIM:615398
Primary Ciliary Dyskinesia
Nasal polyposis, Conductive hearing impairment, Hearing impairment, Polysplenia, Nasal congestion... ORPHA:244
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Graves disease, Failure to thrive, Goite... ORPHA:525731
Mucolipidosis Ii Alpha/Beta
Cerebral cortical atrophy, Depressed nasal bridge, Arthrogryposis multiplex congenita, Failure to... OMIM:252500
Endocrine-Cerebroosteodysplasia
Low-set ears, Wide nasal bridge, Natal tooth, Microphallus, Hyperechogenic kidneys, Thick upper l... OMIM:612651
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Hearing impairmen... OMIM:617394
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... OMIM:616881
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu... OMIM:604387
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Intellectual Developmental Disorder, Autosomal Recessive 46
Protruding ear, Large for gestational age, Widely spaced teeth OMIM:616116
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Obesity, Type II diabetes mellitus, Microdon... ORPHA:3191
Perlman Syndrome
Low-set ears, Wide nasal bridge, Depressed nasal bridge, Distal ileal atresia, Visceromegaly, Ren... OMIM:267000
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, EEG abnormality OMIM:614096
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Bulbous nose, Obesity, Short nose OMIM:611936
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Decreased testicular size, Obesity, Hyperinsulinemia, Type II diabetes mellit... ORPHA:3085
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Proteinuria, Delayed puberty, Episodic hemolytic anem... ORPHA:251004
Idiopathic Intracranial Hypertension
Vertigo, Obesity, Focal sensory seizure with olfactory features, Papilledema, Pulsatile tinnitus ORPHA:238624
Anaplastic Thyroid Carcinoma
Goiter, Abnormal skeletal muscle morphology, Tracheoesophageal fistula, Weight loss, Lymphadenopa... ORPHA:142
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Broad nasal tip, Upper limb muscle weakness, Recurrent otitis media, Moderate hearing impairment,... ORPHA:370010
Treacher-Collins Syndrome
Open bite, Narrow mouth, Cryptorchidism, Abnormality of the middle ear, High palate, Rectovaginal... ORPHA:861
Mucopolysaccharidosis Type 6
Recurrent upper respiratory tract infections, Hearing impairment, Failure to thrive, Thick lower ... ORPHA:583
Urban-Rogers-Meyer Syndrome
Aplasia/Hypoplasia of the earlobes, Camptodactyly of finger, Hypogonadism, Abnormality of the ure... ORPHA:3409
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... OMIM:602088
Radio-Tartaglia Syndrome
Low-set ears, Hearing impairment, Ventricular septal defect, Prominent nasal tip, High palate, Hi... OMIM:619312
Joubert Syndrome 10
Low-set ears, Wide nasal bridge, Conductive hearing impairment, Obesity, Decreased body weight, D... OMIM:300804
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Atrial septal defect,... ORPHA:505248
Chops Syndrome
High, narrow palate, Optic atrophy, Hearing impairment, Downturned corners of mouth, Long philtru... OMIM:616368
Smith-Magenis Syndrome
Abnormality of the ureter, Open mouth, Renal hypoplasia/aplasia, Delayed eruption of primary teet... ORPHA:819
Combined Oxidative Phosphorylation Deficiency 54
Lower limb muscle weakness, Obesity, Sensorineural hearing impairment, Absence of acoustic reflex... OMIM:619737
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Low-set ears, Depressed nasal bridge, Underdeveloped nasal alae, Thick lower lip vermilion, Thick... OMIM:608624
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Narrow palate, Hearing impairment, Long philtrum, Macrotia, Obesity, Wide mout... OMIM:620250
Cockayne Syndrome A
Carious teeth, Cryptorchidism, Hip contracture, Sensorineural hearing impairment, Delayed eruptio... OMIM:216400
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Ciliary Dyskinesia, Primary, 35
Nasal polyposis, Abdominal situs ambiguus, Situs inversus totalis, Chronic rhinitis, Chronic otit... OMIM:617092
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Cupped ear, Dilatation of the renal pelvis, Horseshoe ki... ORPHA:314588
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Mediastinal lymphadenopathy, Peric... OMIM:181000
Attrv30M Amyloidosis
Nephropathy, Cardiomyopathy, Cardiomegaly, Weight loss, Abnormal autonomic nervous system physiol... ORPHA:85447
Chromosome 2Q37 Deletion Syndrome
Depressed nasal bridge, Broad nasal tip, Anteverted nares, Obesity, Sensorineural hearing impairm... OMIM:600430
Kaposiform Lymphangiomatosis
Epistaxis, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, A... ORPHA:464329
Kleefstra Syndrome 1
Natal tooth, Hearing impairment, Obesity, Anteverted nares, Persistence of primary teeth, Cryptor... OMIM:610253
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Low-set ears, Depressed nasal bridge, Wide nasal bridge, Abnormal dental enamel morphology, Bulbo... ORPHA:2180
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Carious teeth, Periodontitis, Hepatic steatosis, Oral ulcer,... ORPHA:79259
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Low-set ears, Large fleshy ears, Open mouth, Congenital diaphragmatic hernia, Atrial septal defec... OMIM:614080
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... OMIM:188570
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Low-set ears, Cholestasis, Decreased circulating T4 concentration, Sensorineural hearing impairme... OMIM:610199
Tyrosinemia, Type I
Hepatic failure, Elevated circulating hepatic transaminase concentration, Nephrocalcinosis, Failu... OMIM:276700
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Absent extraocular muscles, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Wide nasal bridge, Hypospadias, Unilateral cleft lip, Large fleshy ears, Ascites, H... OMIM:616897
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, EEG with burst suppressi... OMIM:617713
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Low-set ears, Bifid uvula, Cleft lip, Downturned corners of mouth, Long philtrum, Tall stature, O... OMIM:618089
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Nasal congestion, Situs inversus totalis, Ventricular septal defect, Dextrocardi... OMIM:616037
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
Carpenter Syndrome 1
Low-set ears, Joint contracture of the hand, Cryptorchidism, Sensorineural hearing impairment, Ve... OMIM:201000
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide nasal base, Obesity, Wide nasal bridge OMIM:616521
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Overgrowth, Ovarian serous cystadenoma, Hydr... ORPHA:276280
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Downturned corners of mouth, Cerebral atrophy, Puberty and gonadal disorders, Obesity, Sensorineu... ORPHA:464282
Cockayne Syndrome B
Carious teeth, Cryptorchidism, Sensorineural hearing impairment, Delayed eruption of primary teet... OMIM:133540
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Upper limb muscl... ORPHA:1435
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Abnormality of the dentition, Natal tooth, Failure to thrive, Hearing impairm... ORPHA:261652
Refsum Disease, Classic
Anosmia, Cardiomyopathy, Limb muscle weakness, Sensorineural hearing impairment, Cardiomegaly, Ab... OMIM:266500
Septo-Optic Dysplasia Spectrum
Anosmia, Obesity, Cryptorchidism, Sensorineural hearing impairment, Tracheoesophageal fistula, Es... ORPHA:3157
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Congenital hypothyroidism, Increased body weight, Increased T3/T4 rati... OMIM:614450
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter OMIM:188550
Down Syndrome
Narrow mouth, Open mouth, Protruding tongue, Renal hypoplasia/aplasia, Ventricular septal defect,... ORPHA:870
Kleefstra Syndrome
Hearing impairment, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Bicuspid aor... ORPHA:261494
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Rhabdomyosarcoma, Embryonal, 2
Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Thyroid... OMIM:180295
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Anemia, Hearing impairment OMIM:618838
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hearing impairment, Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Oral ulcer, Sensorineural he... OMIM:612541
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... OMIM:232220
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Sensorineur... ORPHA:226307
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Dystonia OMIM:614702
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Obesity, Thin upper lip vermilion, Abnormality of superior crus of antih... OMIM:301013
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Atrial septal defect, High palate, Anal atresia, Shor... ORPHA:96148
8P23.1 Microdeletion Syndrome
Low-set ears, Wide nasal bridge, Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardio... ORPHA:251071
Spastic Paraplegia 51, Autosomal Recessive
Wide nasal bridge, Cerebral cortical atrophy, Prominent antihelix, Cerebellar atrophy, Decreased ... OMIM:613744
Bardet-Biedl Syndrome 8
Obesity, Situs inversus totalis OMIM:615985
Noonan Syndrome 4
Low-set ears, Depressed nasal bridge, Dental malocclusion, Hypertrophic cardiomyopathy, Large for... OMIM:610733
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Delayed eruption of permanent teeth, Congenital hypothyroidism, Tented upper l... ORPHA:521445
Body Mass Index Quantitative Trait Locus 19
Anosmia, Obesity, Hyposmia OMIM:617885
Wagr Syndrome
Obesity, Hearing abnormality, Cryptorchidism, Displacement of the urethral meatus, Everted lower ... ORPHA:893
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:602450
Noonan Syndrome 8
Low-set ears, Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age, Cryptorc... OMIM:615355
Immunodeficiency 13
Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent otitis media, Lymphopeni... OMIM:615518
Kabuki Syndrome
Cryptorchidism, Congenital diaphragmatic hernia, Sensorineural hearing impairment, Renal hypoplas... ORPHA:2322
Cowden Syndrome
Abnormal penis morphology, Follicular thyroid carcinoma, Adenoma sebaceum, Hearing impairment, Fa... ORPHA:201
Chromosome 16P13.3 Deletion Syndrome, Proximal
Hypoplastic left heart, Failure to thrive, Polysplenia, Prominent nose, Obesity, Convex nasal rid... OMIM:610543
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Tall stature, Ob... OMIM:618430
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Small hypothenar eminence, Disproportionate tall stature, Thenar m... ORPHA:2463
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Low-set ears, Cerebellar atrophy, Cerebral atrophy, Long philtrum, Macrodontia, Anteverted nares,... OMIM:618443
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Obesity, H... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Obesity, H... ORPHA:71526
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Long-Olsen-Distelmaier Syndrome
Low-set ears, Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Elevated ... OMIM:620609
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
48,Xxyy Syndrome
Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Tall stature, Obe... ORPHA:10
3Q29 Microduplication Syndrome
Low-set ears, Wide nasal bridge, Abnormality of the dentition, Hearing impairment, Obesity, Ventr... ORPHA:251038
Blau Syndrome
Nephropathy, Xerostomia, Abnormal salivary gland morphology, Camptodactyly of finger, Abnormality... ORPHA:90340
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis OMIM:242670
Histiocytosis-Lymphadenopathy Plus Syndrome
Hearing impairment, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolaps... OMIM:602782
Noonan Syndrome 5
Low-set ears, Depressed nasal bridge, Hypertrophic cardiomyopathy, Large for gestational age, Cry... OMIM:611553
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hearing impairment, Birth length greater than 97th percentile, Narrow mouth, Hip contracture, Cir... OMIM:300868
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Restrictive cardiomyopathy, Hearing impairment, Atrial septal defect, Hypoparathyro... ORPHA:369837
Oxoglutaric Aciduria
Abnormal urine alpha-ketoglutarate concentration, Abnormal salivary gland morphology, Skeletal mu... ORPHA:31
Ciliary Dyskinesia, Primary, 1
Anosmia, Nasal polyposis, Conductive hearing impairment, Situs inversus totalis, Chronic rhinitis... OMIM:244400
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Obesity, Muscular dystrophy, Distal lower limb muscle weakness ORPHA:459033
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Hydronephrosis, Tracheoesophageal fistula, Urethral atresia, Esoph... OMIM:314390
Leptin Deficiency Or Dysfunction
Obesity, Recurrent upper respiratory tract infections OMIM:614962
Developmental And Epileptic Encephalopathy 95
Cerebral cortical atrophy, Macroglossia, Cerebellar atrophy, Hearing impairment, Cerebral atrophy... OMIM:618143
Gaucher Disease, Perinatal Lethal
Low-set ears, Depressed nasal bridge, Hepatic failure, Everted upper lip vermilion, Ascites, Hepa... OMIM:608013
Mend Syndrome
Low-set ears, Asymmetry of the mouth, Aortic valve stenosis, Abnormal auditory evoked potentials,... ORPHA:401973
Wilson Disease
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:905
White-Sutton Syndrome
Low-set ears, Abnormality of the outer ear, Congenital diaphragmatic hernia, Sensorineural hearin... OMIM:616364
Waardenburg Syndrome, Type 2E
Anosmia, Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear... OMIM:611584
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Situs inversus totalis, Recurrent sinusitis, Absent inner and outer dynein arms,... OMIM:614935
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Retroperitoneal fibrosis, Colon cancer, Sialadenitis, Or... ORPHA:449563
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Conductive hearing impairment, Failure to thrive, Abnormal heart mo... ORPHA:261197
White-Sutton Syndrome
Abnormality of the outer ear, Open mouth, Narrow mouth, Congenital diaphragmatic hernia, Sensorin... ORPHA:468678
Cantu Syndrome
Wide nasal bridge, Depressed nasal bridge, Congenital hypertrophy of left ventricle, Long philtru... OMIM:239850
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect OMIM:619170
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Thyroid Dyshormonogenesis 1
Macroglossia, Hypothyroidism, Goiter OMIM:274400
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Obesity, Hyposmia OMIM:610628
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Bifid uvula, Elevated circulating hepatic transaminase concentration, D... OMIM:614921
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Low-set ears, Ventricular hypertrophy, Recurrent otitis media, Underdeveloped tragus, Pancytopeni... OMIM:620654
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Decreased thyroid-stimulating hormone level, Weight loss, Increased circulating free T4 c... OMIM:613239
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Papillary thyroid carcinoma, Goiter OMIM:616534
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn... ORPHA:1332
Schaaf-Yang Syndrome
Low-set ears, Failure to thrive in infancy, Hypogonadism, Obesity, Open mouth, Cryptorchidism, Ca... OMIM:615547
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... ORPHA:90301
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Fa... ORPHA:206436
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Dextrocardi... OMIM:615444
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... ORPHA:99027
2Q37 Microdeletion Syndrome
Depressed nasal bridge, Multicystic kidney dysplasia, Conductive hearing impairment, Broad colume... ORPHA:1001
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Depressed nasal bridge, Failure to ... ORPHA:90674
Bardet-Biedl Syndrome 1
High, narrow palate, Hepatic fibrosis, Dental crowding, Hearing impairment, Abnormality of the ov... OMIM:209900
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Tremor, Patent foramen ovale, Atrial septal defect, Exaggerated startle response OMIM:620327
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Situs inversus totalis, Recurrent sinusitis OMIM:620197
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Obesity... OMIM:615630
Lethal Congenital Contracture Syndrome 10
Low-set ears, Narrow palate, Increased variability in muscle fiber diameter, Long philtrum, Ventr... OMIM:617022
Monosomy 13Q34
Epistaxis, Broad nasal tip, Abnormal earlobe morphology, Prominent nose, Prominent nasal bridge, ... ORPHA:96168
Thyroid Lymphoma
Goiter, Hashimoto thyroiditis, Hypothyroidism, Lymphadenopathy, Hyperthyroidism ORPHA:97285
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Colonic diverticula, Elevated circulating calcitonin concentration, Thick lo... OMIM:162300
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de... OMIM:618280
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:618598
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Noonan Syndrome
Dilatation of the renal pelvis, Juvenile myelomonocytic leukemia, Thick lower lip vermilion, Low-... ORPHA:648
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, Optic atrophy, High, narrow palate, Abnormality of the dentit... ORPHA:193
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal localization of kidney, Low-set, posteriorly rotated ears, Intestinal malrotation, Narro... ORPHA:2166
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural... ORPHA:529799
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural... ORPHA:529808
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Hypospadias, Elevated circulating parathyroid hormone level, Hearing impa... ORPHA:439822
Distal Deletion 12Q
Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Polycystic kidney dys... ORPHA:96149
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Rhabdomyolysis, Goiter OMIM:188580
Glutaric Aciduria Iii
Glutaric aciduria, Hyperthyroidism, Failure to thrive, Goiter OMIM:231690
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Melioidosis
Hepatitis, Parotitis, Abnormality of the spleen, Splenic abscess, Abnormal parotid gland morpholo... ORPHA:31202
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Micropenis, Hig... ORPHA:457240
Fucosidosis
Low-set ears, Depressed nasal bridge, Generalized amyotrophy, Hearing impairment, Cerebral atroph... OMIM:230000
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Obesity, Ragged-red muscle fibers, Left ven... OMIM:615418
Maffucci Syndrome
Pituitary adenoma, Goiter, Neoplasm of the parathyroid gland, Parathyroid adenoma, Ovarian neopla... ORPHA:163634
Marbach-Schaaf Neurodevelopmental Syndrome
Enuresis nocturna, Depressed nasal bridge, Broad nasal tip, Downturned corners of mouth, Recurren... OMIM:619680
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hearing impairment, Failure to thrive, Oligosacchariduria, Hypertrophic cardiomyopathy, Facial hy... ORPHA:308552
Clark-Baraitser syndrome
Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, Tall stature, Antev... OMIM:300602
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Proteus Syndrome
Low-set ears, Carious teeth, Decreased muscle mass, Myofibrillar myopathy, Exostosis of the exter... ORPHA:744
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity, Anteverted nares, Short nose OMIM:619854