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 startle reflex Marveld2tm1b(EUCOMM)Wtsi HOM Early adult 1.01×10-06
abnormal ear morphology Marveld2tm1b(EUCOMM)Wtsi HOM Early adult 1.20×10-15
decreased prepulse inhibition Marveld2tm1b(EUCOMM)Wtsi HOM Early adult 1.44×10-31
abnormal auditory brainstem response Marveld2tm1b(EUCOMM)Wtsi HOM   Early adult 9.71×10-07
enlarged heart Marveld2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal startle reflex Marveld2tm1b(EUCOMM)Wtsi HOM Early adult 6.57×10-17

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
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  Wholemount images heterozygote 50% (1 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 50% (1 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 50% (1 of 2)
Gall bladder  Wholemount images heterozygote 50% (1 of 2)
Hippocampus  Wholemount images heterozygote 50% (1 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 50% (1 of 2)
Oral epithelium  Wholemount images heterozygote 50% (1 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 50% (1 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

22 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 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
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Fetal Cytomegalovirus Syndrome
Sensorineural hearing impairment, Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Pendred Syndrome
Congenital sensorineural hearing impairment, Cochlear malformation, Thyroid carcinoma, Compensate... OMIM:274600
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Goiter, Incomplete partition of the cochlea type II, Enlarged v... OMIM:600791
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Pendred Syndrome
Sensorineural hearing impairment, Thyroid carcinoma, Goiter, Nephropathy, Enlarged vestibular aqu... ORPHA:705
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Benign Schwannoma
Abnormality of the adrenal glands, Vestibular schwannoma, Abnormality of the twelfth cranial nerv... ORPHA:252164
Hernández-Aguirre Negrete Syndrome
Wide mouth, Bulbous nose, EEG abnormality, Low-set, posteriorly rotated ears, Deep philtrum, Dela... ORPHA:2139
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Abnormality of the auditory canal, Abnormality of the sublingual glands,... ORPHA:79493
Ethanolaminosis
Cardiomegaly OMIM:227150
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Variant Abeta2M Amyloidosis
Cardiac amyloidosis, Abnormality of the tongue, Chronic kidney disease, Hepatic amyloidosis, Abno... ORPHA:314652
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Sensorineural hearing impairment, Abnormal salivary gland morphology ORPHA:3225
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Ravine Syndrome
Failure to thrive, Decreased body weight, Atrophy/Degeneration affecting the brainstem, Abnormal ... ORPHA:99852
Branchiootorenal Syndrome 1
High palate, Cleft palate, Microdontia, Renal steatosis, Euthyroid goiter, Microtia, Unilateral r... OMIM:113650
Bardet-Biedl Syndrome 16
Recurrent otitis media, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, R... OMIM:615993
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Go... OMIM:274300
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Nephritis, Euthyroid goiter, Abnormality of the musculature of ... ORPHA:3327
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, High palate, Ankle flexion... OMIM:617519
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Fetal Iodine Deficiency Disorder
Hearing impairment, Congenital hypothyroidism, Congenital goiter OMIM:228355
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... ORPHA:87884
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Nephritis, Goiter, Thrombocytopenia, Skeletal muscle atrophy OMIM:274240
11P15.4 Microduplication Syndrome
Long philtrum, Increased overbite, Macrotia, Anteverted nares, Obesity, Posteriorly rotated ears,... ORPHA:300305
Congenital Hypothyroidism
Nephrolithiasis, Abnormality of the thyroid gland, Prolonged neonatal jaundice, Abnormal pericard... ORPHA:442
Familial Thyroid Dyshormonogenesis
Sensorineural hearing impairment, Thyroid defect in oxidation and organification of iodide, Decre... ORPHA:95716
Deafness, Autosomal Recessive 49
Prelingual sensorineural hearing impairment OMIM:610153
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Obesity, Hearing impairment, ... OMIM:303110
Ciliary Dyskinesia, Primary, 37
Goiter, Hypothyroidism, Dextrocardia, Situs inversus totalis, Chronic rhinitis, Hearing impairment OMIM:617577
Al Amyloidosis
Hepatomegaly, Autonomic erectile dysfunction, Renal interstitial amyloid deposits, Proteinuria, P... ORPHA:85443
Galactosemia Iii
Sensorineural hearing impairment, Failure to thrive, Hepatomegaly, Aminoaciduria, Splenomegaly, G... OMIM:230350
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Aa Amyloidosis
Adrenal insufficiency, Malabsorption, Nephrotic syndrome, Hepatomegaly, Chronic kidney disease, A... ORPHA:85445
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Otitis media, T lymphocytopenia, Oral ulcer, Recurrent otitis media, ... OMIM:608971
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Upper limb muscle w... OMIM:601596
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Temple Syndrome
High palate, Cleft palate, Small for gestational age, Maturity-onset diabetes of the young, Flexi... OMIM:616222
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Bulbous nose, Hepatomegaly, Overfolded helix, Elevated circulating aspartate aminotr... OMIM:608836
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Cleft palate, Small for gestational age, O... OMIM:300148
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Tall stature, Pulmonic stenosis, Optic nerve hypoplasia, Bro... ORPHA:137634
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Optic atrophy, Abnormal auditory evoked potential... OMIM:125250
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Bulbous nose, Macroorchidism, Macrotia, Obesity, Bilateral sensorineural hearing impairment, Thic... OMIM:300238
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Hurler-Scheie Syndrome
Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnorma... ORPHA:93476
Bardet-Biedl Syndrome 19
Obesity, Hyposmia OMIM:615996
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Short philtrum, Wi... OMIM:201050
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Combined Oxidative Phosphorylation Deficiency 33
Sensorineural hearing impairment, Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy,... OMIM:617713
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Velopharyngeal insufficiency, EEG abnormality, Everted upper li... OMIM:182290
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Brain atrophy, Enlarged kidney, Optic atrophy, Thrombocytopenia, Proteinuria, Bone ... OMIM:617303
Abcd Syndrome
Polycythemia, Large for gestational age, Abnormal auditory evoked potentials, Total intestinal ag... OMIM:600501
Intellectual Developmental Disorder, X-Linked 97
Obesity, Macrotia OMIM:300803
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Clark-Baraitser Syndrome
Large earlobe, High palate, Wide mouth, Low hanging columella, Depressed nasal bridge, Short phil... OMIM:617752
Retinitis Pigmentosa
Sensorineural hearing impairment, Conductive hearing impairment, Hyperinsulinemia, Type II diabet... ORPHA:791
Mehmo Syndrome
Large earlobe, EEG abnormality, Hypoplasia of penis, Micropenis, Downturned corners of mouth, Dia... ORPHA:85282
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Obesity, Fatty replacement of skeletal muscle, Distal lo... ORPHA:171706
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, U-Shaped upper lip vermilion, Cleft palate, Micropenis, Recurrent upper ... OMIM:300209
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the testes, Obesity... ORPHA:3055
Laurence-Moon Syndrome
Sensorineural hearing impairment, Type II diabetes mellitus, Hypoplasia of penis, Low-set, poster... ORPHA:2377
Congenital Toxoplasmosis
Hepatomegaly, Anemia, Thrombocytopenia, Elevated hepatic transaminase, Ascites, Hearing impairmen... ORPHA:858
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Abnormality of the ear, Recurrent otitis media, EEG abnormality, Flexion contr... ORPHA:391372
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Abnormal pinna morphology, Hepatomegaly, Pancreatic fibrosis, Cystic renal dys... OMIM:200995
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... ORPHA:1193
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Mental Retardation, X-Linked 91
Obesity, Short nose OMIM:300577
Kimura Disease
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, EEG abnormality, Atrial septal defect, Convex nasal ridge, Hypoplasia of the ear car... ORPHA:1035
Arthrogryposis, Distal, Type 2A
High palate, Flexion contracture of finger, Pursed lips, Short nose, Long philtrum, Flexion contr... OMIM:193700
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
High palate, Low-set ears, Protruding ear, Bulbous nose, Broad nasal tip, Depressed nasal bridge,... ORPHA:480907
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Renal cortical adenoma, Pa... ORPHA:97290
Pallister-Hall Syndrome
Cleft palate, Decreased circulating cortisol level, Depressed nasal bridge, Ventricular septal de... OMIM:146510
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... OMIM:615415
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... OMIM:208540
Summitt Syndrome
Obesity OMIM:272350
Diaphanospondylodysostosis
Depressed nasal ridge, Cleft palate, Abnormal liver lobulation, Depressed nasal bridge, Nephrogen... OMIM:608022
Alpha-Mannosidosis
Dental malocclusion, Gingival overgrowth, Type II diabetes mellitus, Hepatomegaly, Abnormal helix... ORPHA:61
Brain-Lung-Thyroid Syndrome
Sensorineural hearing impairment, Hypoparathyroidism, Failure to thrive, Abnormality of the thyro... ORPHA:209905
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... ORPHA:319487
Immunodeficiency 61
Malabsorption, Recurrent sinusitis, Colon cancer, Recurrent otitis media, Obesity OMIM:300310
H Syndrome
Histiocytosis, Cleft upper lip, Malabsorption, Gingival overgrowth, Micropenis, Abnormality of th... ORPHA:168569
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Hip contracture, Tooth agenesis, Cleft palate, Pierre-Robin sequence, Truncal obesit... OMIM:618363
Beckwith-Wiedemann Syndrome
Diastasis recti, Posterior helix pit, Nephrolithiasis, Hepatomegaly, Hepatoblastoma, Macroglossia... OMIM:130650
Neurooculocardiogenitourinary Syndrome
Sensorineural hearing impairment, Atrial septal defect, Ventricular septal defect, Downturned cor... OMIM:618652
Short Stature-Obesity Syndrome
Obesity, Narrow nose, Prominent nasal bridge OMIM:269870
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Abnormal antihelix morphology, Failure to thrive, Bulbous nose, Atrial septal defect, Cryptorchid... ORPHA:3047
Beckwith-Wiedemann Syndrome
Posterior helix pit, Exocrine pancreatic insufficiency, Wide mouth, Hepatomegaly, Hepatoblastoma,... ORPHA:116
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Acromegaloid Facial Appearance Syndrome
Large for gestational age, Bulbous nose, Thick nasal alae OMIM:102150
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
15Q24 Microdeletion Syndrome
Abnormality of the dentition, Depressed nasal bridge, Abnormality of the outer ear, Microphallus,... ORPHA:94065
Trisomy 10P
High palate, Flexion contracture of thumb, Abnormality of the ear, Depressed nasal bridge, EEG wi... ORPHA:171929
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... OMIM:619658
Alg9-Cdg
Wide mouth, Hepatomegaly, Depressed nasal bridge, Hypoplasia of the bladder, Enlarged kidney, Hep... ORPHA:79328
Cowden Syndrome 5
Hydrocele testis, High palate, Narrow mouth, Hyperthyroidism, Ovarian cyst, Goiter, Hamartomatous... OMIM:615108
Chung-Jansen Syndrome
High palate, Thin vermilion border, Short philtrum, Long philtrum, Short nose, Macrotia, Antevert... OMIM:617991
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Large fleshy ears, Abnormal pinna morphology, Cerebral cortical atrophy, Congenital hypothyroidis... ORPHA:352530
Joubert Syndrome 37
High palate, Low-set ears, Hepatomegaly, Micropenis, Wide nose, Decreased testicular size, Hydron... OMIM:619185
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Decreased response to growth hormone st... OMIM:203800
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cerebral atrophy, Cryptorchidism, Microtia, Thin vermilion border, Depressed nasal bridge, Microp... ORPHA:171839
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly, Median cleft palate ORPHA:2432
Endocrine-Cerebroosteodysplasia
Cleft upper lip, Abnormal pinna morphology, Cryptorchidism, Cleft palate, Micropenis, Hypospadias... OMIM:612651
X-Linked Non-Syndromic Intellectual Disability
Small for gestational age, Broad nasal tip, Depressed nasal bridge, Urinary incontinence, Long ph... ORPHA:777
Rafiq Syndrome
Bulbous nose, Flexion contracture, Underdeveloped nasolabial fold, Short philtrum, Wide nasal bri... OMIM:614202
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... ORPHA:457059
Infantile Sialic Acid Storage Disease
High palate, Failure to thrive, Gingival overgrowth, Nephrotic syndrome, Hepatomegaly, Vacuolated... OMIM:269920
Mccune-Albright Syndrome
Pancreatitis, Abnormal endocrine physiology, Ovarian cyst, Cholestasis, Hepatocellular adenoma, I... ORPHA:562
Cowden Syndrome 6
Hydrocele testis, High palate, Narrow mouth, Hyperthyroidism, Ovarian cyst, Goiter, Hamartomatous... OMIM:615109
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, L... ORPHA:110
Intellectual Developmental Disorder With Autism And Macrocephaly
Tall stature, Long philtrum, Wide nose, Posteriorly rotated ears, Open mouth, Overweight, Wide na... OMIM:615032
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Hydrocele testis, High pal... ORPHA:79330
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... ORPHA:64744
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Hypoplasia of the ear cartilage, Mediastinal lymphadenopathy, Mastocy... ORPHA:66661
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Depressed nasal ridge, Cholestasis, Enlarged kidney, Esophage... ORPHA:731
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion, Cardiomegaly, Macrotia OMIM:613576
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, EEG abnormality, Cerebral atrophy, Restrictive cardiomyopathy, Abnormality of the de... OMIM:615398
Trisomy 5P
Obesity, Protruding ear, Renal hypoplasia/aplasia, Hypoplasia of penis ORPHA:1742
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged k... OMIM:306955
Transaldolase Deficiency
Wide mouth, Hepatomegaly, Micronodular cirrhosis, Depressed nasal bridge, Short philtrum, Ventric... OMIM:606003
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Low-frequency sensorineural hearing impairment, Hemophagocytosis, Splenomegaly, Hepatosp... OMIM:613101
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cleft palate, Depressed nasal tip, Microdontia, Carious teeth, Anteriorly placed anus, Central di... OMIM:604292
Borjeson-Forssman-Lehmann Syndrome
EEG abnormality, Micropenis, Delayed puberty, Macrotia, Obesity, Cryptorchidism OMIM:301900
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Macroglossia, Depressed nasal bridge, Congenital hypothyr... ORPHA:226313
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Treacher Collins Syndrome 1
Conductive hearing impairment, Wide mouth, Narrow mouth, Cleft palate, Microtia, Atresia of the e... OMIM:154500
Aredyld Syndrome
Narrow mouth, Type II diabetes mellitus, Hepatomegaly, Splenomegaly, Cachexia, Abnormal nasal mor... ORPHA:1133
Down Syndrome
Depressed nasal ridge, Abnormality of the dentition, Depressed nasal bridge, Microdontia, Short n... ORPHA:870
Microtriplication 11Q24.1
Cleft palate, Attached earlobe, Irregularly spaced teeth, Short philtrum, Wide nose, Obesity, Hea... ORPHA:289522
Oculoskeletodental Syndrome
Hepatomegaly, Cryptorchidism, Macroglossia, Splenomegaly, Small for gestational age, Renal agenes... OMIM:618440
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc... OMIM:609136
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Heparan sulfate excreti... OMIM:252920
11Q22.2Q22.3 Microdeletion Syndrome
High, narrow palate, Depressed nasal bridge, Obesity, Low-set ears, Thin upper lip vermilion, Pos... ORPHA:444002
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop... ORPHA:101085
Neuraminidase Deficiency
Sensorineural hearing impairment, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary exc... OMIM:256550
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Sensorineural hearing impairment, Protruding ear, Macroglossia, Proportionate tall stature, Nephr... ORPHA:500095
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Wide mouth, Cerebral atrophy, Brain atrophy, Depressed nasal br... OMIM:619260
Permanent Congenital Hypothyroidism
Macroglossia, Thyroid dysgenesis, Hypothyroidism, Goiter, Jaundice ORPHA:226292
Lacrimoauriculodentodigital Syndrome
Abnormal pinna morphology, Abnormality of the dentition, Microdontia, Carious teeth, Microtia, Mi... ORPHA:2363
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormality of the extraocular muscles, Xerostomia, Myositis, Thrombocytopenia, Abnormal salivary... ORPHA:79078
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly, Macrotia OMIM:300886
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Cowden Syndrome 1
Hydrocele testis, High palate, Narrow mouth, Lymphopenia, Hyperthyroidism, Ovarian cyst, Goiter, ... OMIM:158350
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Sensorineural hearing impairment, Abnormality of the endocrine system, Gingival overgrowth, Crypt... ORPHA:464288
Alpha-N-Acetylgalactosaminidase Deficiency
Cerebral cortical atrophy, Oligosacchariduria, Thick vermilion border, Vertigo, Hearing impairmen... ORPHA:3137
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Proteinuria, Polycystic ov... ORPHA:2298
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cleft palate, Broad nasal tip, Depressed nasal tip, Microdontia, Carious teeth, Central diabetes ... OMIM:129900
Muckle-Wells Syndrome
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Camptodactyly of finger, Nephropathy, Optic atrop... ORPHA:575
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
X-Linked Intellectual Disability, Stevenson Type
Abnormal pinna morphology, Tall stature, Microdontia, Broad columella, Tented upper lip vermilion... ORPHA:85325
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Failure to thrive, Widely spaced primary teeth, Hepatomegaly... ORPHA:90321
Joubert Syndrome 32
Large for gestational age, Depressed nasal bridge, Hypertrophic cardiomyopathy, Tall stature OMIM:617757
Intellectual Developmental Disorder, Autosomal Dominant 52
Sensorineural hearing impairment, High palate, Cryptorchidism, Small for gestational age, Depress... OMIM:617796
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Low-set, posteriorly rotated ears, Downturned corners of mouth, Obesity, Abno... ORPHA:254525
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Bulbous nose, Aortic valve stenosis, Everted lower lip vermilion, Overfolded helix, Depressed nas... ORPHA:324410
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Scheie Syndrome
Sensorineural hearing impairment, Wide mouth, Hepatomegaly, Splenomegaly, Everted lower lip vermi... ORPHA:93474
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Narrow mouth, Precocious puberty, Cleft palate, Small for gestational age, Maturity-... ORPHA:96184
Simpson-Golabi-Behmel Syndrome, Type 1
Posterior helix pit, Wide mouth, Hepatomegaly, Hepatoblastoma, Tall stature, Cleft palate, Depres... OMIM:312870
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... ORPHA:449395
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Quadriceps muscle weakness, Limb muscle weakness, Hyperthyroidism, Hypothyroidis... ORPHA:254892
Helsmoortel-Van Der Aa Syndrome
Wide mouth, Decreased response to growth hormone stimulation test, Everted lower lip vermilion, B... OMIM:615873
19P13.12 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Precocious puberty, Atrial septa... ORPHA:254346
6Q16 Microdeletion Syndrome
Bulbous nose, Microtia, Depressed nasal bridge, Abnormal ear morphology, Anteverted nares, Obesit... ORPHA:171829
Leprechaunism
Failure to thrive, Protruding ear, Hyperinsulinemia, Hepatomegaly, Decreased body weight, Increas... ORPHA:508
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Low-set ears, Wide mouth, Microtia, Everted upper lip vermilion, Widely spaced teeth, Wide nose, ... OMIM:619056
Perlman Syndrome
Cryptorchidism, Long upper lip, Congenital diaphragmatic hernia, Nephrogenic rest, Depressed nasa... OMIM:267000
Fucosidosis
Failure to thrive, Hepatomegaly, Abnormality of the dentition, Abnormality of the gallbladder, Hy... ORPHA:349
X-Linked Intellectual Disability, Shashi Type
Bulbous nose, Everted lower lip vermilion, Macrotia, Obesity, Macroorchidism ORPHA:85286
Graves Disease, Susceptibility To, 1
Abnormal abdomen morphology, Decreased thyroid-stimulating hormone level, Graves disease, Increas... OMIM:275000
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Fetal Gaucher Disease
High palate, Hepatomegaly, Flexion contracture, Splenomegaly, Depressed nasal bridge, Abnormality... ORPHA:85212
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Congenital Disorder Of Glycosylation, Type Iie
Abnormal pinna morphology, Hepatomegaly, Short nose, Skeletal muscle atrophy, Jaundice, Abnormal ... OMIM:608779
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Brain atrophy, Macroscopic hematuria, Membranoproliferative glomerulon... ORPHA:251004
13Q12.3 Microdeletion Syndrome
Failure to thrive, Cryptorchidism, Congenital diaphragmatic hernia, Oligodontia, Chronic otitis m... ORPHA:412035
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Abnormality of the thyroid gland, Sialadenitis, Abnormality of the ... ORPHA:449432
Bardet-Biedl Syndrome 7
Obesity, Depressed nasal bridge OMIM:615984
Hepatic Veno-Occlusive Disease
Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Increased body weight, Ascites,... ORPHA:890
Ogden Syndrome
Hydrocele testis, High palate, Abnormality of the dentition, Short philtrum, Depressed nasal brid... OMIM:300855
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Mucolipidosis Ii Alpha/Beta
Diastasis recti, Failure to thrive, Wide mouth, Cerebral cortical atrophy, Hepatomegaly, Gingival... OMIM:252500
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Membranous subvalvular aortic stenosis, Low-set, posteriorly rotated e... ORPHA:3191
Bardet-Biedl Syndrome 2
Obesity, Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Apert Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Ectopic anus, Narrow palate, Ova... ORPHA:87
Ascher Syndrome
High palate, Abnormality of upper lip, Hypothyroidism, Wide nose, Goiter ORPHA:1253
Sotos Syndrome
High palate, Tall stature, Otitis media, Muscular ventricular septal defect, Broad nasal tip, Dep... OMIM:117550
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Sensorineural hearing impairment, Hepatomegaly, Hiatus hernia, Splenomegaly, Depressed nasal brid... OMIM:610199
Intellectual Developmental Disorder, Autosomal Recessive 46
Large for gestational age, Widely spaced teeth, Protruding ear OMIM:616116
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic ... ORPHA:3085
Pediatric-Onset Graves Disease
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Graves dis... ORPHA:525731
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Overfolded helix, Camptodactyly of finger, Abnormality of the ureter, Flexio... ORPHA:3409
Kleefstra Syndrome Due To 9Q34 Microdeletion
Abnormal cardiac septum morphology, Cerebral cortical hemiatrophy, Short nose, Abnormal testis mo... ORPHA:96147
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Brain atrophy, Heparan sulfate excretion in urine, Enlarged kidney, Optic atrophy, Thrombocytopen... ORPHA:505248
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Microtia, Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous c... ORPHA:276280
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Cleft upper lip, Abnormality of the tongue, Intestinal malrotation, Large for gestational age, Bi... OMIM:601165
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyroiditis... ORPHA:83601
Idiopathic Intracranial Hypertension
Focal sensory seizure with olfactory features, Pulsatile tinnitus, Papilledema, Vertigo, Obesity ORPHA:238624
Bangstad Syndrome
Convex nasal ridge, Small for gestational age, Pancytopenia, Insulin-resistant diabetes mellitus,... OMIM:210740
Summitt Syndrome
Tall stature, Depressed nasal ridge, Camptodactyly of finger, Wide nose, Obesity ORPHA:3210
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Chromosome 3Q29 Duplication Syndrome
Obesity, Bulbous nose, Short nose, Wide nasal bridge OMIM:611936
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Chronic tubulointerstitial nephritis, Nephrono... OMIM:602088
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Bulbous nose, Depressed nasal bridge, Wide nasal bridge, Prominent nose, Anteverted ... ORPHA:2180
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Microtia, Depressed nasal bridge, Deep philtrum, Short nose, Wide nose... OMIM:613320
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hepatomegaly, Hepatocellular adenoma, Enlarged kidney, Carious teeth, Proteinuria, ... ORPHA:79259
Refsum Disease, Classic
Sensorineural hearing impairment, Abnormal renal physiology, Limb muscle weakness, Cardiomyopathy... OMIM:266500
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274700
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Tracheoesophageal fistula, T... ORPHA:861
Chops Syndrome
Anomalous pulmonary venous return, Cryptorchidism, High, narrow palate, Splenomegaly, Long philtr... OMIM:616368
Kaposiform Lymphangiomatosis
Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Abnormality of the ly... ORPHA:464329
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Absent extraocular muscles, Abnormal auditory evoked potentials OMIM:109120
Radio-Tartaglia Syndrome
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Short philtrum, Ventricular septal... OMIM:619312
Mucopolysaccharidosis Type 6
Failure to thrive, Macroglossia, Splenomegaly, Recurrent upper respiratory tract infections, Chro... ORPHA:583
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Abnormal pinna morphology, Persistence of primary teeth, Cryptorchi... OMIM:610253
Combined Oxidative Phosphorylation Deficiency 54
Sensorineural hearing impairment, Hypergonadotropic hypogonadism, Thin vermilion border, Lower li... OMIM:619737
Ciliary Dyskinesia, Primary, 2
Otitis media, Situs inversus totalis, Dextrocardia, Hearing impairment, Absent inner and outer dy... OMIM:606763
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly, Depressed nasal bridge, Long philtrum, Short nose, Obesity OMIM:605309
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Abnormal skeletal muscle morphology, Tracheoesophageal fistula, Goi... ORPHA:142
Distal Tetrasomy 15Q
Sensorineural hearing impairment, Hydrocele testis, High palate, Abnormal helix morphology, Atria... ORPHA:314588
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Thick upper lip vermilion, Narrow mouth, Overfolded helix, Depressed nasal bridge, Mixed hearing ... OMIM:608624
Sarcoidosis, Susceptibility To, 1
Optic neuropathy, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Inflammation of the la... OMIM:181000
Body Mass Index Quantitative Trait Locus 19
Obesity, Anosmia, Hyposmia OMIM:617885
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Broad nasal tip, Moderate hearing impairment, Recurrent otitis media, Upper limb muscle weakness,... ORPHA:370010
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydrocele testis, High palate, Cleft palate, Overfolded helix, Depressed nasal bridge, Large for ... OMIM:614080
Multiple Sulfatase Deficiency
Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Depressed nasal bridge, Optic atrop... ORPHA:585
Central Precocious Puberty
Increased body weight, Obesity, Overgrowth ORPHA:759
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Absent brainstem auditory responses, Head titubation, Vestibular areflexia ORPHA:3240
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology, Abnormal renal physiology, Nephropathy, Weight loss... ORPHA:85447
Cockayne Syndrome A
Abnormal pinna morphology, Hepatomegaly, Carious teeth, Optic atrophy, Proteinuria, Hypogonadism,... OMIM:216400
Glycogen Storage Disease Ib
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... OMIM:232220
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Chronic rhinitis, Nasal polyposis OMIM:617092
Smith-Magenis Syndrome
Cleft palate, Depressed nasal bridge, Short philtrum, Abnormality of the ureter, Short nose, Tent... ORPHA:819
Primary Ciliary Dyskinesia
Double outlet right ventricle, Conductive hearing impairment, Anomalous pulmonary venous return, ... ORPHA:244
Van Der Woude Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... ORPHA:888
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Sensorineural hearing impairment, Cerebral atrophy, Downturned corners of mouth, Obesity, Puberty... ORPHA:464282
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Enlarge... OMIM:314390
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... ORPHA:93108
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Macroglossia, Increased body mass index, Congenital hypo... OMIM:614450
Tyrosinemia, Type I
Failure to thrive, Paralytic ileus, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Acute... OMIM:276700
Carpenter Syndrome 1
High palate, Abnormal pinna morphology, Depressed nasal bridge, Ventricular septal defect, Optic ... OMIM:201000
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Dental crowding, Supernumerary nipple, Macroglossia, Microtia, Reduced alpha/beta sy... OMIM:141750
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
High palate, Precocious puberty, Maturity-onset diabetes of the young, Short philtrum, Wide nose,... ORPHA:254531
Thyroid Cancer, Nonmedullary, 1
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma OMIM:188550
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Abnormality of... ORPHA:1435
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Large fleshy ears, Cleft palate, Small for gestational age, Hypertrophic cardiomyopathy, Flexion ... OMIM:616897
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Wide mouth, Cleft palate, Overfolded helix, Depressed nasal bridge, Short philtrum, Large for ges... OMIM:280000
Noonan Syndrome 4
Low-set ears, Wide mouth, Dental malocclusion, Atrial septal defect, Hypertrophic cardiomyopathy,... OMIM:610733
Distal Monosomy 10Q
Facial diplegia, High palate, Cleft palate, Morphological abnormality of the vestibule of the inn... ORPHA:96148
8P23.1 Microdeletion Syndrome
High palate, Low-set ears, Abnormal cardiac septum morphology, Cryptorchidism, Hypoplastic left h... ORPHA:251071
Noonan Syndrome 8
Failure to thrive, Atrial septal defect, Cryptorchidism, Pulmonic stenosis, Left ventricular hype... OMIM:615355
Amyloidosis, Hereditary, Transthyretin-Related
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio... OMIM:105210
Wagr Syndrome
Everted lower lip vermilion, Hearing abnormality, Displacement of the urethral meatus, Obesity, C... ORPHA:893
Chromosome 2Q37 Deletion Syndrome
Sensorineural hearing impairment, Depressed nasal bridge, Broad nasal tip, Wide nose, Subvalvular... OMIM:600430
Septo-Optic Dysplasia Spectrum
Sensorineural hearing impairment, Hypoplasia of penis, Cleft palate, Optic nerve hypoplasia, Abno... ORPHA:3157
Kleefstra Syndrome Due To A Point Mutation
Uplifted earlobe, Failure to thrive, Precocious puberty, Anal atresia, Abnormality of the dentiti... ORPHA:261652
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Hepatomegaly, Cleft palate, Otitis media, Urachus fistula, Cor triatriatum, Splenome... OMIM:612541
Kleefstra Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Ventricular septal defect, Pyloric stenosi... ORPHA:261494
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
High palate, Hepatomegaly, Triangular mouth, Overfolded helix, Depressed nasal bridge, Microdonti... OMIM:300868
Ataxia-Oculomotor Apraxia Type 4
Obesity, Muscular dystrophy, Distal lower limb muscle weakness, Progressive distal muscular atrophy ORPHA:459033
Cockayne Syndrome B
Abnormal pinna morphology, Hepatomegaly, Carious teeth, Optic atrophy, Proteinuria, Hypoplasia of... OMIM:133540
Ciliary Dyskinesia With Excessively Long Cilia
Chronic rhinitis, Recurrent bronchitis, Abnormal respiratory motile cilium morphology, Nasal poly... OMIM:242680
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Hearing impairment, Decreased circulating cortisol level, Cardiomegaly OMIM:618838
Bardet-Biedl Syndrome 8
Situs inversus totalis, Obesity OMIM:615985
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone OMIM:188570
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter, Multicystic kidney dysplasia ORPHA:2091
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Nephrolithiasis, Abnormality of the kidney, Short philtrum, Congenital hypothyroidism, Wide nasal... ORPHA:521445
Rhabdomyosarcoma, Embryonal, 2
Nephroblastoma, Thyroid nodule, Embryonal rhabdomyosarcoma, Ovarian thecoma, Multinodular goiter,... OMIM:180295
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Anosmia, Hyposmia OMIM:610628
Cowden Syndrome
High palate, Failure to thrive, Abnormality of the thyroid gland, Macroglossia, Abnormal penis mo... ORPHA:201
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Abnormal concentration of acylcarnitine in the... ORPHA:391428
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Wide nasal bridge, Wide nasal base OMIM:616521
Wilson Disease
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis,... ORPHA:905
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hepatomegaly, Cervical lymphadenopathy, Hypergonadotropic hypogona... OMIM:602782
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Central adrenal insufficiency, Decreased response to growth ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Central adrenal insufficiency, Decreased response to growth ... ORPHA:71526
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
High palate, Protruding ear, Narrow mouth, Hepatomegaly, Cerebral atrophy, Hypodontia, Short phil... OMIM:618443
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter OMIM:274500
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
High palate, Thenar muscle atrophy, Narrow mouth, Hypoplasia of the musculature, Eunuchoid habitu... ORPHA:2463
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Thyroid hypoplasia, Prolonge... ORPHA:226307
Noonan Syndrome 5
Wide mouth, Atrial septal defect, Cryptorchidism, Pulmonic stenosis, Depressed nasal bridge, Larg... OMIM:611553
Kabuki Syndrome
High palate, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Micr... ORPHA:2322
Gaucher Disease, Perinatal Lethal
Narrow mouth, Decreased body weight, Hepatomegaly, Splenomegaly, Microtia, Anemia, Hepatosplenome... OMIM:608013
Noonan Syndrome
Sensorineural hearing impairment, Abnormal pulmonary valve morphology, High palate, Hepatomegaly,... ORPHA:648
Intellectual Developmental Disorder, X-Linked 107
Abnormality of superior crus of antihelix, Prominent crus of helix, Macrotia, Obesity, Thin upper... OMIM:301013
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... OMIM:611584
3Q29 Microduplication Syndrome
High palate, Low-set ears, Ectopic anus, Cleft palate, Abnormality of the dentition, Camptodactyl... ORPHA:251038
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Bulbous nose, Tall stature, Depressed nasal bridge, Downturned corners of mouth, Short nose, Tent... OMIM:618430
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Depressed nasal bridge, Tented upper lip vermilion, Abnormal heart morphology, Hypoparathyroidism... ORPHA:369837
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged kidney, Insulin-resistant diabetes me... ORPHA:90301
Igg4-Related Ophthalmic Disease
Sialadenitis, Pancreatitis, Orchitis, Abnormality of the extraocular muscles, Abnormality of infr... ORPHA:449563
Fucosidosis
Glycopeptiduria, Hepatomegaly, Vacuolated lymphocytes, Cerebral atrophy, Splenomegaly, Macrogloss... OMIM:230000
Oxoglutaric Aciduria
Abnormal urine alpha-ketoglutarate concentration, Skeletal muscle atrophy, Abnormal salivary glan... ORPHA:31
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Gingival overgrowth, Cerebellar vermis atrophy, Hepatomegaly, Crypto... OMIM:618143
Chromosome 16P13.3 Deletion Syndrome, Proximal
High palate, Failure to thrive, Convex nasal ridge, Hypoplastic left heart, Low hanging columella... OMIM:610543
Cantu Syndrome
Thick upper lip vermilion, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Gingi... OMIM:239850
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter, Macroglossia OMIM:274400
Blau Syndrome
Clear cell renal cell carcinoma, Splenomegaly, Facial palsy, Xerostomia, Camptodactyly of finger,... ORPHA:90340
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Mend Syndrome
High palate, Failure to thrive, Aortic valve stenosis, Cryptorchidism, Cleft palate, Limb hyperto... ORPHA:401973
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Nasal congestion, Absent outer dynein arms, Nasal polyposis OMIM:616037
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Action tremor, Abnormal autonomic nervous system physiology, In... ORPHA:99027
Schaaf-Yang Syndrome
Cryptorchidism, Flexion contracture, Micropenis, Open mouth, Camptodactyly, Abnormality of the ph... OMIM:615547
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Chronic otitis media, Situs inversus totalis, Chronic rhinitis, An... OMIM:244400
Beck-Fahrner Syndrome
High palate, Protruding ear, EEG abnormality, Long philtrum, Ventricular septal defect, Open mout... OMIM:618798
Multiple Endocrine Neoplasia, Type Iib
High palate, Medullary thyroid carcinoma, Aganglionic megacolon, High, narrow palate, Disproporti... OMIM:162300
Glycogen Storage Disease Ia
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Hepatocellular... OMIM:232200
Medullary Thyroid Carcinoma
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Elevated calcitonin, ... ORPHA:1332
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Hepatomegaly, Oligosacchariduria, Macroglossia, Left ventricular hypertrophy, ... ORPHA:308552
Monosomy 13Q34
Pulmonic stenosis, Broad nasal tip, Epistaxis, Common atrium, Posteriorly rotated ears, Prominent... ORPHA:96168
White-Sutton Syndrome
High palate, Broad nasal tip, Short philtrum, Depressed nasal bridge, Optic atrophy, Open mouth, ... ORPHA:468678
Distal Monosomy 12Q
Bulbous nose, Biliary atresia, Bilateral conductive hearing impairment, Pyloric stenosis, Failure... ORPHA:96149
Pde4D Haploinsufficiency Syndrome
Prominent nasal tip, Cryptorchidism, Elevated circulating parathyroid hormone level, Depressed na... ORPHA:439822
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... ORPHA:90674
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Hepatic failure, Cholestasi... OMIM:615630
Thyroid Cancer, Nonmedullary, 4
Goiter, Non-medullary thyroid carcinoma OMIM:616534
Charge Syndrome
Abnormal cardiac septum morphology, Cleft palate, Overfolded helix, Tracheoesophageal fistula, De... ORPHA:138
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Hepatomegaly, Lymphopenia, Splenomegaly, Otitis media, Aplasia of the thymus, ... OMIM:602450
Bardet-Biedl Syndrome 1
Abdominal obesity, High palate, Nephrogenic diabetes insipidus, Aganglionic megacolon, High, narr... OMIM:209900
Craniofaciofrontodigital Syndrome
Dental malocclusion, Abnormality of the dentition, Depressed nasal bridge, Long philtrum, Short n... OMIM:114620
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Failure to thrive, Atrial septal... ORPHA:261197
Thauvin-Robinet-Faivre Syndrome
Sensorineural hearing impairment, Tall stature, Macroglossia, Nephroblastoma, Overgrowth, Renal d... OMIM:617107
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... ORPHA:486815
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Weakness of facial musculature, Dep... OMIM:619418
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Supernumerary nipple, Congenital diaphragmatic hernia, Thin vermil... ORPHA:1001
Intellectual Developmental Disorder, X-Linked, Syndromic 13
High palate, Flexion contracture, Wrist flexion contracture, Male hypogonadism, Macrotia, Obesity... OMIM:300055
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Tremor, Decreased nerve conduction velocity, Prol... ORPHA:206443
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Prolonge... ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Prolonge... ORPHA:529808
Glutaric Aciduria Iii
Glutaric aciduria, Failure to thrive, Goiter, Hyperthyroidism OMIM:231690
Melioidosis
Splenic abscess, Abnormality of the spleen, Parotitis, Hepatitis, Abnormal parotid gland morpholo... ORPHA:31202
White-Sutton Syndrome
High palate, Cleft palate, Broad nasal tip, Short philtrum, Depressed nasal bridge, Depressed nas... OMIM:616364
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter, Lymphadenopathy ORPHA:97285
Leptin Deficiency Or Dysfunction
Obesity, Recurrent upper respiratory tract infections OMIM:614962
Multiple Endocrine Neoplasia Type 1
Thymoma, Increased serum serotonin, Pituitary growth hormone cell adenoma, Intestinal carcinoid, ... ORPHA:652
Cohen Syndrome
Sensorineural hearing impairment, Gingival overgrowth, Tooth agenesis, Aplasia/Hypoplasia of the ... ORPHA:193
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Obesity, Hy... OMIM:615418
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Goiter, Weight loss, Hyperthyroidism OMIM:188580
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cleft palate, Increased hepatic glycogen content, Chronic hepatitis, Elevated circu... OMIM:614921
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Macroorchidism, Tall stature, Prominent median palatal rap... OMIM:300602
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Cholestasis, Bladder exstrophy, Ventric... OMIM:301068
Distal 16P11.2 Microdeletion Syndrome
Narrow mouth, Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Vesicoureteral r... ORPHA:261222
Kallmann Syndrome
Sensorineural hearing impairment, Tooth agenesis, Hypoplasia of penis, Cleft palate, Hyposmia, Mi... ORPHA:478
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
High palate, Decreased response to growth hormone stimulation test, Micropenis, Decreased testicu... ORPHA:457240
Adult Krabbe Disease
EEG abnormality, Lower limb muscle weakness, Upper limb muscle weakness, Prolonged brainstem audi... ORPHA:206448
Maffucci Syndrome
Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Neoplasm of the adrenal cortex, Neoplas... ORPHA:163634
Infantile Krabbe Disease
Failure to thrive, Decreased nerve conduction velocity, Cachexia, Optic atrophy, Diffuse cerebral... ORPHA:206436
X-Linked Intellectual Disability, Cabezas Type
High palate, Wide mouth, EEG abnormality, Hypoplasia of penis, Open bite, Cachexia, Short philtru... ORPHA:85293
Blepharochalasis And Double Lip
Goiter, Duplication of the upper lip OMIM:109900
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Obesity, Short nose OMIM:619854