Gene: Marveld2 MGI:2446166

Log in to follow

Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal startle reflex Marveld2tm1b(EUCOMM)Wtsi HOM Early adult 9.04×10-17
enlarged heart Marveld2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal auditory brainstem response Marveld2tm1b(EUCOMM)Wtsi HOM   Early adult 9.71×10-07
abnormal ear morphology Marveld2tm1b(EUCOMM)Wtsi HOM Early adult 1.52×10-15
decreased startle reflex Marveld2tm1b(EUCOMM)Wtsi HOM Early adult 1.01×10-06
decreased prepulse inhibition Marveld2tm1b(EUCOMM)Wtsi HOM Early adult 1.44×10-31

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 50% (1 of 2)
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

22 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Echo

M-Mode Images

28 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Sensorineural hearing impairment, Anemia, Splenomegaly ORPHA:294
Pendred Syndrome
Compensated hypothyroidism, Goiter, Cochlear malformation, Vestibular dysfunction, Thyroid carcin... OMIM:274600
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Acromegaloid Facial Appearance Syndrome
Large for gestational age, Bulbous nose OMIM:102150
Macrosomia With Microphthalmia, Lethal
Respiratory infections in early life, Large for gestational age OMIM:248110
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Goiter, Hypothyroidism, Nephropathy, Enlarged vestibular aque... ORPHA:705
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Benign Schwannoma
Vertigo, Abnormal cranial nerve morphology, Abnormality of peripheral nervous system electrophysi... ORPHA:252164
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Retinitis Pigmentosa 59
Cryptorchidism, Elevated hepatic transaminase, Hepatomegaly, Sensorineural hearing impairment, Fa... OMIM:613861
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Hernández-Aguirre Negrete Syndrome
Bulbous nose, Low-set, posteriorly rotated ears, Deep philtrum, Wide mouth, Delayed puberty, EEG ... ORPHA:2139
Bardet-Biedl Syndrome 16
Renal insufficiency, Abnormality of the kidney, Bronchiolitis, Recurrent otitis media, Renal dysp... OMIM:615993
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Absent brainstem auditory responses, Se... OMIM:617519
Ethanolaminosis
Cardiomegaly OMIM:227150
Ravine Syndrome
Abnormality of the larynx, Decreased body weight, Abnormal auditory evoked potentials, Failure to... ORPHA:99852
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Abnormality of the sublingual glands, Hearing impairment, Facial palsy, ... ORPHA:79493
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Hearing impairment, Goiter, Small for gestational age OMIM:274300
Variant Abeta2M Amyloidosis
Abnormality of the tongue, Cardiac amyloidosis, Intestinal perforation, Renal amyloidosis, Abnorm... 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, Left ventricular noncompaction cardiomyopathy OMIM:615092
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Oral ulcer, Pneumonia, He... OMIM:608971
Thyrocerebrorenal Syndrome
Renal insufficiency, Thrombocytopenia, Sensorineural hearing impairment, Abnormality of the muscu... ORPHA:3327
Branchiootorenal Syndrome 1
Abnormal renal collecting system morphology, Renal steatosis, Intestinal malrotation, Stenosis of... OMIM:113650
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Recurrent urinary tract infections, Hepatome... OMIM:618495
Fetal Iodine Deficiency Disorder
Hearing impairment, Congenital hypothyroidism, Congenital goiter OMIM:228355
Sandhoff Disease
Hepatomegaly, Hearing impairment, Failure to thrive, Splenomegaly, Recurrent respiratory infections ORPHA:796
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Non-Syndromic Genetic Deafness
Progressive sensorineural hearing impairment, High-frequency hearing impairment, Low-frequency se... ORPHA:87884
11P15.4 Microduplication Syndrome
Long philtrum, Macrotia, Smooth philtrum, Posteriorly rotated ears, Increased overbite, Anteverte... ORPHA:300305
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Galactosemia Iii
Aminoaciduria, Hepatomegaly, Jaundice, Sensorineural hearing impairment, Galactosuria, Failure to... OMIM:230350
Congenital Hypothyroidism
Macroglossia, Goiter, Anterior hypopituitarism, Hypothyroidism, Anosmia, Abnormal pericardium mor... ORPHA:442
Thyrocerebroretinal Syndrome
Goiter, Thrombocytopenia, Sensorineural hearing impairment, Skeletal muscle atrophy, Nephritis OMIM:274240
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Goiter, Bronchiectasis, Hypothyroidism, Dextrocardia, Hearing impairment,... OMIM:617577
Deafness, Autosomal Recessive 49
Prelingual sensorineural hearing impairment OMIM:610153
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Familial Thyroid Dyshormonogenesis
Macroglossia, Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevat... ORPHA:95716
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Postural hypotension with compensatory tachycardia, W... ORPHA:85443
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Bulbous nose, Overfolded helix, Macrovesicular hepatic steatosis, Cardiomegaly, Re... OMIM:608836
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Abnormal heart morphology, Enlarged kidney, Hypothyroidis... ORPHA:85445
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia, Obesity OMIM:617885
Mehmo Syndrome
Long philtrum, Depressed nasal tip, Male hypogonadism, Drooling, Open mouth, Macrotia, Decreased ... OMIM:300148
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Temple Syndrome
Cryptorchidism, Short philtrum, Maturity-onset diabetes of the young, Overweight, Recurrent otiti... OMIM:616222
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Abnormal nerve conduction velocity, Hepatomegaly, Sensorineural ... ORPHA:93476
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Myopathy, Opti... OMIM:125250
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Joint contracture of the hand, Obesity OMIM:264010
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Long philtrum, Thick lower lip vermilion, Tall stature, Unilateral cryptorchidism, Abnormal pulmo... ORPHA:137634
Smith-Magenis Syndrome
Abnormal renal morphology, Abnormal heart morphology, Morphological abnormality of the middle ear... OMIM:182290
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Neutropenia, Leukopenia, Anemia, Wide nose, Macroglossia, Nephr... OMIM:617303
Bardet-Biedl Syndrome 22
Obesity OMIM:617119
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Increased muscle lipid content, Hepatic steatosis, Hepatomegaly, S... OMIM:610717
Perlman Syndrome
Cryptorchidism, Thickened helices, Abnormality of upper lip, Short nose, Open mouth, Hyperinsulin... ORPHA:2849
Acrocraniofacial Dysostosis
Short philtrum, Conductive hearing impairment, Natal tooth, Abnormality of the outer ear, Abnorma... OMIM:201050
Bardet-Biedl Syndrome 19
Hyposmia, Obesity OMIM:615996
Rafiq Syndrome
Prominent nose, Wide nasal bridge, Obesity OMIM:614202
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Pulmoni... OMIM:615382
Acrocephalopolydactylous Dysplasia
Short nose, Enlarged kidney, Cystic renal dysplasia, Polysplenia, Hypoplastic colon, Abnormality ... OMIM:200995
Intellectual Developmental Disorder, X-Linked 97
Obesity, Macrotia OMIM:300803
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hypothyroidism, Hepatomegaly, Sensorineural hearing impairment, Le... OMIM:617713
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Obesity OMIM:615418
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Conductive hearing impairment, Wide nasal bridge, S... ORPHA:791
Mehmo Syndrome
Cryptorchidism, Downturned corners of mouth, Thick vermilion border, EEG abnormality, Hypoplasia ... ORPHA:85282
Beta-Mercaptolactate Cysteine Disulfiduria
Convex nasal ridge, Atrial septal defect, Hypoplasia of the ear cartilage, Low-set, posteriorly r... ORPHA:1035
Laurence-Moon Syndrome
Cryptorchidism, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Congenital h... ORPHA:2377
Pallister-Hall Syndrome
Cryptorchidism, Hydroureter, Atresia of the external auditory canal, Natal tooth, Choanal atresia... OMIM:146510
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Abnormality of the mouth, Everted lower lip vermilion, Truncal obesity... ORPHA:181393
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Recurrent upper respiratory tract infections, Micropenis, Deep philtrum, Pneumonia, W... OMIM:300209
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Low-set, posteriorly rotated ears, Hypoplasia of penis, Aplasia/Hypoplasia of the... ORPHA:3055
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Cystic renal dysplasia, Cholestasis,... OMIM:615415
Alpha-Mannosidosis
Open bite, Macroglossia, Narrow palate, Macrotia, Widely spaced teeth, Chronic otitis media, Hepa... ORPHA:61
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Sensor... ORPHA:209905
Atkin-Flaitz Syndrome
Macrotia, Everted lower lip vermilion, Macroorchidism, Abnormality of the dentition, Thick vermil... ORPHA:1193
Arthrogryposis, Distal, Type 2A
Pursed lips, Cryptorchidism, Restricted neck movement due to contractures, Narrow mouth, Underdev... OMIM:193700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Congenital Toxoplasmosis
Elevated hepatic transaminase, Failure to thrive in infancy, Hepatomegaly, Jaundice, Hearing impa... ORPHA:858
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent nasolabial fold, Short nose, Hypoplastic helices, Recurrent upper respiratory tract inf... ORPHA:391372
Mast Cell Sarcoma
Hypoplasia of the ear cartilage, Weight loss, Hepatomegaly, Splenomegaly, Mediastinal lymphadenop... ORPHA:66661
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Temporal optic disc pallor, Absent brainstem auditory responses, Sen... ORPHA:1215
Mental Retardation, X-Linked 91
Short nose, Obesity OMIM:300577
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Global brain atrophy, Caudate atrophy, Absent brainstem auditory response... ORPHA:52368
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Obesity, Malabsorption, Recurrent respiratory infect... OMIM:300310
Autism, Susceptibility To, 18
Overweight, Tall stature, Wide nose OMIM:615032
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Median cleft palate, Large for gestational age, Recurrent respiratory infections ORPHA:2432
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Bulbous nose, Macrotia, Macroorchidism, Thick lower lip vermilion, Obesity OMIM:300238
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Chronic rhinitis, Chronic sinusitis, Rec... OMIM:617092
H Syndrome
Bronchiectasis, Enlarged kidney, Microcytic anemia, Camptodactyly, Decreased testicular size, Mal... ORPHA:168569
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Papillary thyroid carcinoma, Goiter, Chronic noninfectious lymphadenopathy, Abnormality of the ly... ORPHA:97290
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Long philtrum, Bulbous nose, Chronic otitis media, Low-set ears, Obesity, Hearing impairment, Pro... ORPHA:480907
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Cryptorchidism, Abnormality of the antihelix, Bulbous nose, Low-set ears, Ectopic thyroid, Neopla... ORPHA:3047
Summitt Syndrome
Obesity OMIM:272350
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Overweight, Centrally nucleated ske... OMIM:619178
Short Stature-Obesity Syndrome
Narrow nose, Prominent nasal bridge, Obesity OMIM:269870
Diaphanospondylodysostosis
Nephroblastomatosis, Short nose, Enlarged kidney, Nephrogenic rest, Cystic renal dysplasia, Trach... OMIM:608022
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary thyroid carcinoma, Goiter, Chronic noninfectious lymphadenopathy, Papillary renal cell ... ORPHA:319487
Beckwith-Wiedemann Syndrome
Cryptorchidism, Macroglossia, Posterior helix pit, Diastasis recti, Renal cortical cysts, Enlarge... OMIM:130650
Beckwith-Wiedemann Syndrome
Cryptorchidism, Pseudohypoparathyroidism, Hypercalciuria, Vesicoureteral reflux, Large intestinal... ORPHA:116
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, B... OMIM:208540
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Carious teeth, Pierre-Robin sequence, High palate, Tooth agenesis, Heari... OMIM:618363
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Hearing impairment, Conductive hearing impairment, ... OMIM:303110
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Low-frequency sensorineural hearing impairment, Recurrent upper respiratory tra... OMIM:613101
Alstrom Syndrome
Progressive sensorineural hearing impairment, Gingivitis, Renal insufficiency, Otitis media, Hype... OMIM:203800
Trisomy 10P
Thin vermilion border, Low voltage EEG, Camptodactyly, Oral cleft, Rectovaginal fistula, Abnormal... ORPHA:171929
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricula... OMIM:613424
Peroxisomal Acyl-Coa Oxidase Deficiency
Hypodontia, Low-set ears, Hepatomegaly, Sensorineural hearing impairment, EEG abnormality, Failur... ORPHA:2971
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Thin vermilion border, Long philtrum, Renal agenesis, Short nose, Renal hypoplasi... ORPHA:171839
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Depressed nasal tip, Microphallus, Adrenal hypoplasia, Enlarged kidney, Natal too... OMIM:612651
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
X-Linked Non-Syndromic Intellectual Disability
Meckel diverticulum, Long philtrum, Delayed eruption of teeth, Moderate sensorineural hearing imp... ORPHA:777
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic ... ORPHA:444463
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Short nose, Global brain atrophy, Pericardial effusion, Wide mouth, Low-set ears, ... OMIM:608776
Chung-Jansen Syndrome
Cryptorchidism, Thin vermilion border, Long philtrum, Short philtrum, Short nose, Macrotia, High ... OMIM:617991
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Downturned corners of mouth, Abnormality of the pinna, Wide nasal bridge, Thin upper lip vermilio... ORPHA:352530
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter, Narrow mouth, Thyroiditis, Hypothyroidism, Thyroid adenom... OMIM:615108
Aredyld Syndrome
Abnormal dental enamel morphology, Advanced eruption of teeth, Narrow mouth, Low-set, posteriorly... ORPHA:1133
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Tooth malposition, Abnormality of dental morphology, Hypoplasia of penis, Hypogon... ORPHA:85274
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal calcium-phosphate regulating hormone level, Abnormal testis morphology, Abnormal... ORPHA:457059
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cryptorchidism, Carious teeth, Hydroureter, Choanal atresia, Duplicated collecting system, Xerost... OMIM:604292
Mccune-Albright Syndrome
Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increased circu... ORPHA:562
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Long philtrum, Short philtrum, Narrow mouth, Anteverted nares, Cerebral atrophy, Abnormality of t... OMIM:618443
Alpha-N-Acetylgalactosaminidase Deficiency
Vertigo, Oligosacchariduria, Thick vermilion border, Cerebral cortical atrophy, Hearing impairmen... ORPHA:3137
Mucopolysaccharidosis, Type Iiid
Asymmetric septal hypertrophy, Drooling, Recurrent upper respiratory tract infections, Flexion co... OMIM:252940
Treacher Collins Syndrome 1
Cryptorchidism, Narrow mouth, Abnormal heart morphology, Conductive hearing impairment, Hypoplasi... OMIM:154500
15Q24 Microdeletion Syndrome
Cryptorchidism, Narrow mouth, Small for gestational age, Congenital diaphragmatic hernia, Obesity... ORPHA:94065
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Bilateral cryptorch... OMIM:618652
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Cerebral atrophy, Hepatomegaly, Nephrotic syndrome, Ascites, Cardiomegaly... OMIM:269920
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion, Cardiomegaly, Macrotia OMIM:613576
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Pleuritis, Pericarditis, Hematuria, Interstitial pneumonitis... ORPHA:449395
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Submucous cleft lip, Intestinal malrotation, Congenital diaphragmatic hernia, Car... OMIM:312870
Oculoskeletodental Syndrome
Cryptorchidism, Macroglossia, Oligodontia, Mucopolysacchariduria, Hypothyroidism, Wide nasal brid... OMIM:618440
Aicardi-Goutieres Syndrome 4
Convex nasal ridge, Elevated hepatic transaminase, Cerebral atrophy, Low-set ears, Hepatomegaly, ... OMIM:610333
Transaldolase Deficiency
Thin vermilion border, Pancytopenia, Decreased liver function, Small for gestational age, Anemia,... OMIM:606003
Bardet-Biedl Syndrome
Cryptorchidism, Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hepatic fibrosis... ORPHA:110
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Goiter, Narrow mouth, Thyroiditis, Hypothyroidism, Thyroid adenom... OMIM:615109
Muckle-Wells Syndrome
Progressive sensorineural hearing impairment, Camptodactyly of finger, Renal amyloidosis, Abnorma... ORPHA:575
Trisomy 5P
Obesity, Renal hypoplasia/aplasia, Protruding ear, Hypoplasia of penis ORPHA:1742
Chops Syndrome
Cryptorchidism, Horseshoe kidney, Short nose, Downturned corners of mouth, Laryngomalacia, Hearin... OMIM:616368
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Neutropenia, Cor triatriatum, Leukopenia, Anemia, High palate, Hypoplasia of the ... OMIM:612541
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Macrotia, Delayed puberty, EEG abnormality, Micropenis, Obesity OMIM:301900
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Bronchiectasis, Pulmonary fibrosis... OMIM:181000
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Choanal atre... ORPHA:2363
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Microtriplication 11Q24.1
Short philtrum, Irregularly spaced teeth, Smooth philtrum, Attached earlobe, Posteriorly rotated ... ORPHA:289522
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating ho... ORPHA:226313
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Long philtrum, Short nose, Open mouth, Downturned corners of mouth, Restrictive cardiomyopathy, H... OMIM:615398
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Recurrent upper respiratory tract infections, Heparan sulfate excr... OMIM:252920
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Thin vermilion border, Long philtrum, Abnormality of the endocrine system, Renal ... ORPHA:464288
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Cryptorchidism, Low-set ears, Hepatomegaly, Failure to thrive, Hypospadias, Prominent nasal bridg... OMIM:604273
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Renal malrotation, Bifid ureter, Enlarged kidney, Macrotia, Ventricular septal defe... ORPHA:500095
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Macroorchidism, Cardiomegaly, Macrotia OMIM:300886
Down Syndrome
Acute megakaryocytic leukemia, Narrow palate, Narrow mouth, Open mouth, Downturned corners of mou... ORPHA:870
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity, Sensorineural hearing impairment, Cerebral atrophy OMIM:616756
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Charcot-Marie-Tooth Disease Type 1F
Hand muscle weakness, Flexion contracture of finger, Scapular winging, Proximal lower limb amyotr... ORPHA:101085
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Hypogonadism, Abnormality of the kidney, Obesity OMIM:615987
Scheie Syndrome
Mucopolysacchariduria, Abnormal nerve conduction velocity, Everted lower lip vermilion, Wide mout... ORPHA:93474
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Sensorineural hearing impairment, A... OMIM:256550
Roifman Syndrome
Long philtrum, Noncompaction cardiomyopathy, Underdeveloped nasal alae, Ventricular septal defect... OMIM:616651
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Pneumonia, Weight loss, Leukopenia, Type II diabetes mellitus, Abn... ORPHA:2298
Sialidosis Type 2
Flexion contracture, Nephropathy, Hepatomegaly, Hearing impairment, Ascites, Skeletal muscle atro... ORPHA:87876
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Low-set, posteriorly rotated ears, Flexion contracture, Hepat... ORPHA:85212
Permanent Congenital Hypothyroidism
Macroglossia, Goiter, Hypothyroidism, Jaundice, Thyroid dysgenesis ORPHA:226292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cryptorchidism, Carious teeth, Oligodontia, Hydroureter, Choanal atresia, Duplicated collecting s... OMIM:129900
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Diabetes mellitus, Cochlear degeneration, Nephropathy OMIM:172500
X-Linked Intellectual Disability, Stevenson Type
Thickened helices, Abnormality of the pinna, Thick nasal alae, Tall stature, Tented upper lip ver... ORPHA:85325
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Downturned corners of mouth, Abnormal heart morphology, Low-set, posteriorly rotated ears, Precoc... ORPHA:254525
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Narrow mouth, Jaundice, Decreased liver function, Skeletal muscle atrophy, Wi... OMIM:608779
Subaortic Stenosis-Short Stature Syndrome
Abnormal vocal cord morphology, Membranous subvalvular aortic stenosis, Low-set, posteriorly rota... ORPHA:3191
Leprechaunism
Long penis, Hyperinsulinemia, Enlarged kidney, Enlarged ovaries, Megarectum, Central hypothyroidi... ORPHA:508
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Pharyngalgia, Sensorineural hearing impairment, Splenomegaly, Recurrent aphthous st... OMIM:611762
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Bulbous nose, Wide mouth, Hypodontia, Hepatomegaly, Cleft pa... ORPHA:3473
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Goiter, Narrow mouth, Thyroiditis, Lymphopenia, Hypothyroidism, T... OMIM:158350
Helsmoortel-Van Der Aa Syndrome
Long philtrum, Advanced eruption of teeth, Short nose, Abnormal heart morphology, Low-set, poster... OMIM:615873
Cockayne Syndrome Type 1
Enamel hypoplasia, Cryptorchidism, Delayed eruption of primary teeth, Male hypogonadism, Elevated... ORPHA:90321
Hardikar Syndrome
Elevated hepatic transaminase, Ventricular septal defect, Hydroureter, Recurrent urinary tract in... OMIM:612726
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
6Q16 Microdeletion Syndrome
Bulbous nose, Abnormal ear morphology, Low-set ears, Obesity, Anteverted nares, Microtia, Depress... ORPHA:171829
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Atrial septal defect, Decreased circulating follicle stimulating hormone concentr... OMIM:619326
X-Linked Intellectual Disability, Shashi Type
Bulbous nose, Macrotia, Everted lower lip vermilion, Macroorchidism, Obesity ORPHA:85286
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Bulbous nose, Macrotia, Overfolded helix, Everted lower lip vermilion, Macroorchidism, Abnormal a... ORPHA:324410
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Laryngotracheal stenosis, Weight loss, Abnormal skeletal mu... ORPHA:142
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, ... ORPHA:449432
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... ORPHA:244
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Hepatic steatosis, Hepatomegaly, Renal tubular acidosis, Hearing impairment, De... OMIM:614922
13Q12.3 Microdeletion Syndrome
Cryptorchidism, Oligodontia, Underdeveloped nasal alae, Camptodactyly, Chronic otitis media, Thin... ORPHA:412035
Joubert Syndrome 32
Large for gestational age, Depressed nasal bridge, Tall stature, Hypertrophic cardiomyopathy OMIM:617757
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Absent inner and outer dynein arms, Recu... OMIM:606763
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Short philtrum, Maturity-onset diabetes of the young, Narrow mouth, Recurrent oti... ORPHA:96184
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Bronchiectasis, Nasal congestion, Absent outer dynein arms, Nasal polypos... OMIM:616037
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Thin upper lip vermilion, Long philtrum, Hiatus hernia, Pancreatic cysts, Choanal atresia, Choles... OMIM:610199
Tyrosinemia, Type I
Paralytic ileus, Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Renal Fanconi syndrom... OMIM:276700
Deafness-Lymphedema-Leukemia Syndrome
Vertigo, Myeloproliferative disorder, Leukocytosis, Chronic otitis media, Weight loss, Hepatomega... ORPHA:3226
Fucosidosis
Decreased muscle mass, Mucopolysacchariduria, Hypothyroidism, Abnormality of the dentition, Hepat... ORPHA:349
Kaposiform Lymphangiomatosis
Abnormal lung morphology, Multiple renal cysts, Enlarged kidney, Pleural effusion, Pancreatic cys... ORPHA:464329
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Pulmonary hypoplasia, Absence of renal... OMIM:602088
Mucopolysaccharidosis Type 6
Macroglossia, Recurrent upper respiratory tract infections, Abnormal heart valve morphology, Muco... ORPHA:583
Autosomal Dominant Progressive External Ophthalmoplegia
EMG: myopathic abnormalities, Hypomimic face, Nocturia, Shoulder girdle muscle weakness, Limb mus... ORPHA:254892
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Recurrent upper respiratory tract infections, Heparan sulfate excr... OMIM:252900
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Wide mouth, Brain atrophy, Irregular dentition, Cerebellar atrophy, Abnormal au... OMIM:619260
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Hepatomegaly, Jaundice, Thrombocytopenia, Sensor... ORPHA:290
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cryptorchidism, Hypoplasia of the semicircular canal, Anosmia, Long-segment aganglionic megacolon... OMIM:609136
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
19P13.12 Microdeletion Syndrome
Cryptorchidism, Thin vermilion border, Atrial septal defect, Arthrogryposis multiplex congenita, ... ORPHA:254346
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Enlarged kidney, Ovarian serous cystadenoma, Overgrowth, Nephroblastoma, Abnorm... ORPHA:276280
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Abnormal dental enamel morphology, Enlarged kidney, Brain atrophy, Mem... ORPHA:251004
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Patent foramen ovale, Macroglossia, Enlarged kidney, Flexion contracture, Thr... ORPHA:505248
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Polycystic ovaries, Cerebellar ... ORPHA:3085
Mental Retardation With Language Impairment And With Or Without Autistic Features
Short nose, Broad nasal tip, Failure to thrive in infancy, Obesity OMIM:613670
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Hyperphosphaturia, Proteinuria, Increased hepatocellul... OMIM:220110
Ascher Syndrome
Abnormality of upper lip, Goiter, Hypothyroidism, High palate, Wide nose ORPHA:1253
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormality of the dentition, Low-set ears, Posteriorly rotated ears, Cerebral cortical atrophy, ... ORPHA:3224
Perlman Syndrome
Cryptorchidism, Nephroblastomatosis, Open mouth, Nephrogenic rest, Long upper lip, Visceromegaly,... OMIM:267000
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased body weight, Renal insu... ORPHA:890
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Nasal polyposis, Recurrent sin... OMIM:608647
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Cryptorchidism, Abnormality of the philtrum, Overfolded helix, Flexion c... ORPHA:3409
Apert Syndrome
Convex nasal ridge, Delayed eruption of teeth, Narrow palate, Ovarian neoplasm, Conductive hearin... ORPHA:87
Kleefstra Syndrome 1
Cryptorchidism, Macroglossia, Abnormal renal morphology, Micropenis, Everted lower lip vermilion,... OMIM:610253
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Abnormality of the tongue, Visceromegaly, Intestinal malrotation, Bilateral cleft lip and palate,... OMIM:601165
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Goiter, Elevated hepatic transaminase, Increased c... ORPHA:525731
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Renal insufficiency, Hematuria, Albuminuria, Pyelonephriti... ORPHA:730
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Mulibrey Nanism
Enamel hypoplasia, Myocardial fibrosis, Dental crowding, Hypoplastic frontal sinuses, Wide nasal ... OMIM:253250
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Smooth philtrum, Hepatomegaly, Sensorineural hearing impairment, Splenomeg... ORPHA:585
Ciliary Dyskinesia With Excessively Long Cilia
Recurrent bronchitis, Nasal polyposis, Chronic rhinitis, Sinusitis, Abnormal respiratory motile c... OMIM:242680
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Macroglossia, Ventricular septal defect, Obesity, Protruding tongue, Sensorineura... OMIM:612938
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cryptorchidism, Downturned corners of mouth, Cerebral cortical atrophy, Vesicoureteral reflux, Re... ORPHA:96147
Idiopathic Intracranial Hypertension
Focal sensory seizure with olfactory features, Vertigo, Papilledema, Pulsatile tinnitus, Obesity ORPHA:238624
Chromosome 3Q29 Duplication Syndrome
Short nose, Bulbous nose, Wide nasal bridge, Obesity OMIM:611936
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Deep philtrum, Low-set ears, Wide nose, Small for gestational age, Cardiomegaly, Ante... OMIM:613320
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Abnormal heart morphology, Camptodactyly, Intrahepatic biliary dysgenesis, Low-se... OMIM:614866
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Absent inner and ou... OMIM:615444
Fucosidosis
Macroglossia, Absent/hypoplastic paranasal sinuses, Vacuolated lymphocytes, Flexion contracture, ... OMIM:230000
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Abnormal autonomic nervous system ph... ORPHA:83601
Severe Intellectual Disability And Progressive Spastic Paraplegia
Short philtrum, Facial hypotonia, Bulbous nose, Overweight, Drooling, Wide mouth, Cerebral cortic... ORPHA:280763
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Obesity OMIM:615981
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Refsum Disease, Classic
Abnormal renal physiology, Anosmia, Sensorineural hearing impairment, Cardiomegaly, Limb muscle w... OMIM:266500
Bangstad Syndrome
Convex nasal ridge, Goiter, Insulin-resistant diabetes mellitus, Pancytopenia, Small for gestatio... OMIM:210740
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydrocele testis, Thin vermilion border, Open mouth, Overfolded helix, Ureteral hypoplasia, Vesic... OMIM:614080
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Convex nasal ridge, Cryptorchidism, Elevated hepatic transaminase, Narrow mouth, Dental crowding,... OMIM:615381
Distal Tetrasomy 15Q
Hydrocele testis, Atrial septal defect, Horseshoe kidney, Abnormal heart morphology, Camptodactyl... ORPHA:314588
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Thrombocytopenia, Facial palsy, Anemia, Splenomegaly, Failure to thrive, Optic atrophy OMIM:615085
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Dental crowding, Decreased testicular s... OMIM:209900
Radio-Tartaglia Syndrome
Bulbous nose, Dental crowding, High palate, High, narrow palate, Precocious puberty, Obesity, Dep... OMIM:619312
Treacher-Collins Syndrome
Open bite, Cryptorchidism, Abnormal dental enamel morphology, Narrow mouth, Narrow internal audit... ORPHA:861
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Absent extraocular muscles OMIM:109120
Rhabdomyosarcoma, Embryonal, 2
Goiter, Multinodular goiter, Pleuropulmonary blastoma, Nephroblastoma, Ovarian thecoma, Thyroid n... OMIM:180295
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Anal atresia, Hydronephrosis, Atrioventricular canal defect, T... OMIM:314390
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Ventricular septal defect, Pleural effusion, Micropenis, Flexion contracture, Wide na... OMIM:616897
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Goiter, Thyroid carcinoma OMIM:274700
Pseudo-Torch Syndrome 1
Long philtrum, Elevated hepatic transaminase, High palate, Low-set ears, Jaundice, Hepatomegaly, ... OMIM:251290
Macrocephaly/Autism Syndrome
Long philtrum, Short nose, Lymphopenia, Hepatomegaly, Obesity, Splenomegaly, Depressed nasal bridge OMIM:605309
Sialidosis Type 1
Aminoaciduria, Wide nasal bridge, Splenomegaly, Sensorineural hearing impairment, EEG abnormality... ORPHA:812
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Narrow mouth, Overfolded helix, Low-set ears, Obesity, Mixed hearing impairment, Thick lower lip ... OMIM:608624
Cog5-Cdg
Neurogenic bladder, Camptodactyly of finger, Cryptorchidism, Elevated hepatic transaminase, High ... ORPHA:263487
Chanarin-Dorfman Syndrome
Hepatic steatosis, Everted lower lip vermilion, Hepatomegaly, Sensorineural hearing impairment, M... OMIM:275630
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Everted upper lip vermilion, Wide mouth, Low-set ears, Obesity, Hearing impairment, Anteverted na... OMIM:619056
Summitt Syndrome
Camptodactyly of finger, Tall stature, Depressed nasal ridge, Wide nose, Obesity ORPHA:3210
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Carious teeth, Thyroiditis, Delayed puberty, Anemia, Gingivitis, Enlarged kidney, Oral ulcer, Epi... ORPHA:79259
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Macroglossia, Abnormal heart valve morphology, Dermatan sulfate excret... OMIM:309900
Graves Disease, Susceptibility To, 1
Abnormal abdomen morphology, Graves disease, Goiter, Weight loss OMIM:275000
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Moderate hearing impairment, Overweight, Recurrent otitis media, Thin upper lip vermilion, Broad ... ORPHA:370010
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Kleefstra Syndrome Due To A Point Mutation
Uplifted earlobe, Thick lower lip vermilion, Abnormal heart morphology, Natal tooth, Abnormality ... ORPHA:261652
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Bronchiectasis, Recu... OMIM:607594
Kleefstra Syndrome
Cryptorchidism, Downturned corners of mouth, Cerebral cortical atrophy, Vesicoureteral reflux, Pu... ORPHA:261494
Igg4-Related Ophthalmic Disease
Abnormality of the sphenoid sinus, Abnormal lung morphology, Abnormality of the extraocular muscl... ORPHA:449563
Mucopolysaccharidosis, Type Iiic
Asymmetric septal hypertrophy, Recurrent upper respiratory tract infections, Everted lower lip ve... OMIM:252930
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation ORPHA:3240
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Bronchiectasis, Conductive hearing impairment, Nasal polyposis, Chronic o... OMIM:244400
Hurler Syndrome
Endocardial fibroelastosis, Flexion contracture, Neurodegeneration, Enlarged tonsils, Thick vermi... OMIM:607014
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Overfolded helix, Camptodactyly, Peripheral pulmonary artery stenosis, Duplicated collecting syst... OMIM:280000
Melioidosis
Lung abscess, Respiratory tract infection, Splenic abscess, Acute infectious pneumonia, Pneumonia... ORPHA:31202
Central Precocious Puberty
Overgrowth, Increased body weight, Obesity ORPHA:759
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic sinusitis OMIM:604571
Attrv30M Amyloidosis
Abnormal renal physiology, Abnormal autonomic nervous system physiology, Nephropathy, Weight loss... ORPHA:85447
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Narrow mouth, Downturned corners of mouth, Overfolded helix, Hypsarrhythmia, Duplicated collectin... OMIM:300868
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Increased T3/T4 ratio, Impaired sensitivity to thyroid h... OMIM:614450
Mucopolysaccharidosis Type 1
Sensorineural hearing impairment, Sinusitis, Abnormality of the tonsils, Depressed nasal bridge, ... ORPHA:579
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Downturned corners of mouth, Cerebral atrophy, Urinary incontinenc... ORPHA:464282
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Absent inner and ou... OMIM:614935
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Bulbous nose, Wide nasal bridge, Low-set ears, Obesity, Promin... ORPHA:2180
Smith-Magenis Syndrome
Open mouth, Failure to thrive in infancy, Abnormal tracheobronchial morphology, Delayed puberty, ... ORPHA:819
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter OMIM:188550
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Macroglossia, Cryptorchidism, Long philtrum, Dental crowding, Micr... OMIM:141750
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Short philtrum, Maturity-onset diabetes of the young, Recurrent otitis media, High palate, Precoc... ORPHA:254531
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system p... OMIM:105210
Mucopolysaccharidosis, Type Vii
Recurrent upper respiratory tract infections, Abnormal heart valve morphology, Dermatan sulfate e... OMIM:253220
Xq21 Microdeletion Syndrome
Anterior hypopituitarism, Stapes ankylosis, Conductive hearing impairment, Pituitary hypothyroidi... ORPHA:1435
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Follicular hyp... OMIM:240500
Wagr Syndrome
Cryptorchidism, Everted lower lip vermilion, Displacement of the urethral meatus, Hearing abnorma... ORPHA:893
Distal Monosomy 10Q
Acute kidney injury, Vesicoureteral reflux, High palate, Abnormality of the outer ear, Morphologi... ORPHA:96148
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Short nose, Narrow mouth, Open mouth, Everted upper lip vermi... OMIM:608013
Noonan Syndrome 4
Cryptorchidism, Thickened helices, Atrial septal defect, Ventricular septal defect, Dental malocc... OMIM:610733
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hearing impairment, Cardiomegaly, Anemia OMIM:618838
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Intermittent jaundice, Hearing imp... OMIM:243300
Medullary Thyroid Carcinoma
Elevated calcitonin, Pheochromocytoma, Weight loss, Primary hyperparathyroidism, Abnormal liver p... ORPHA:1332
Cockayne Syndrome A
Cryptorchidism, Slender nose, Carious teeth, Delayed eruption of primary teeth, Hypoplasia of tee... OMIM:216400
Carpenter Syndrome 1
Cryptorchidism, Hydroureter, Camptodactyly, Sensorineural hearing impairment, High palate, Precoc... OMIM:201000
Chromosome 2Q37 Deletion Syndrome
Obesity, Sensorineural hearing impairment, Depressed nasal bridge, Broad nasal tip, Wide nose, Su... OMIM:600430
Glycogen Storage Disease Ii
Macroglossia, Firm muscles, Hepatomegaly, Hearing impairment, Cardiomegaly, Splenomegaly, Recurre... OMIM:232300
Clark-Baraitser Syndrome
Depressed nasal bridge, Short nose, Obesity OMIM:617752
Noonan Syndrome 5
Cryptorchidism, Thickened helices, Atrial septal defect, Wide mouth, Thick vermilion border, Lary... OMIM:611553
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Maternal diabetes, Abnormality of the hypothalamus-pituitary axis, Anosmia, Esoph... ORPHA:3157
Noonan Syndrome
Abnormality of the lymphatic system, Cryptorchidism, Thickened helices, Low-set, posteriorly rota... ORPHA:648
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Abnormality of the kidney, Short philtrum, Macrotia, Tented upper lip vermilion, Wide nasal bridg... ORPHA:521445
Ataxia-Oculomotor Apraxia Type 4
Distal lower limb muscle weakness, Muscular dystrophy, Progressive distal muscular atrophy, Obesity ORPHA:459033
Cockayne Syndrome B
Cryptorchidism, Slender nose, Carious teeth, Severe failure to thrive, Hypoplasia of teeth, Delay... OMIM:133540
11Q22.2Q22.3 Microdeletion Syndrome
Drooling, Low-set ears, Posteriorly rotated ears, Thin upper lip vermilion, Depressed nasal bridg... ORPHA:444002
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Convex nasal ridge, Short philtrum, Hypothyroidism, Camptodactyly, Choanal atresia, Recurrent res... OMIM:613385
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Cryptorchidism, Ventricular septal defect, Protein-losing enteropath... OMIM:235255
Noonan Syndrome 8
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Pleural effusion, Low-set ears, ... OMIM:615355
Ciliary Dyskinesia, Primary, 42
Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, Chronic rhinitis OMIM:618695
8P23.1 Microdeletion Syndrome
Cryptorchidism, Thin vermilion border, Short nose, High palate, Weight loss, Wide nasal bridge, L... ORPHA:251071
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Facial paralysis, Hepatomegaly, Pancytopenia, Hearing impairment, Facial palsy, Th... OMIM:259700
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormality of the columella, Small hypothenar eminence, Narrow mouth, Macrotia, Disproportionate... ORPHA:2463
Hsd10 Disease, Infantile Type
Cerebral atrophy, Neurodegeneration, Frontotemporal cerebral atrophy, Hearing impairment, Abnorma... ORPHA:391428
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly, Histiocytosis, Pancreatic hypoplasia, Sensorineural hearing impairment, Cardiomega... OMIM:602782
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Kabuki Syndrome
Cryptorchidism, Crossed fused renal ectopia, Duplicated collecting system, Lip pit, Oral cleft, C... ORPHA:2322
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Cowden Syndrome
Macroglossia, Goiter, Abnormal penis morphology, Neoplasm of the thyroid gland, Adenoma sebaceum,... ORPHA:201
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter, Multicystic kidney dysplasia ORPHA:2091
Sialuria
Long philtrum, Smooth philtrum, Wide nasal bridge, Low-set ears, Hepatomegaly, Thin upper lip ver... OMIM:269921
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Anosmia, Morphological abnormality of the vestibule of the ... OMIM:611584
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Goiter, Increased circulating free T3 OMIM:188570
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Macroglossia, Facial hypotonia, Difficulty in tongue movements, Elev... ORPHA:308552
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Downturned corners of mouth, Global brain atrophy, Hypercalciuria, Exaggerated cupid's bow, High,... ORPHA:369837
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Overweight, Centrally nucleated skeletal muscle fibers, Recurrent r... ORPHA:486815
Peroxisome Biogenesis Disorder 1B
Convex nasal ridge, Cirrhosis, Hyperoxaluria, Wide nasal bridge, Hepatic fibrosis, Hepatomegaly, ... OMIM:601539
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Decreased response to growth... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Decreased response to growth... ORPHA:71526
Leptin Deficiency Or Dysfunction
Recurrent pneumonia, Recurrent upper respiratory tract infections, Obesity OMIM:614962
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Goiter, Thyroid defect in oxidation and organification of iodide OMIM:274500
Blepharochalasis And Double Lip
Abnormality of the mouth, Goiter, Duplication of the upper lip OMIM:109900
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Felty Syndrome
Pleuritis, Pericarditis, Pulmonary fibrosis, Abnormal lymphocyte morphology, Chronic otitis media... ORPHA:47612
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged kidney, Insulin-resistant diabetes me... ORPHA:90301
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Osteopetrosis With Renal Tubular Acidosis
Abnormal renal tubule morphology, Carious teeth, Abnormality of dental morphology, Hepatomegaly, ... ORPHA:2785
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplas... ORPHA:226307
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration, Skeletal mu... ORPHA:31
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Thickened helices, Arthrogryposis multiplex congenita, Macroglossia, Deep philtru... OMIM:618143
Multiple Endocrine Neoplasia, Type Iib
Parathyroid hyperplasia, Elevated calcitonin, Pheochromocytoma, Disproportionate tall stature, Hi... OMIM:162300
3Q29 Microduplication Syndrome
Ventricular septal defect, Camptodactyly of toe, Deep philtrum, Abnormality of the dentition, Wid... ORPHA:251038
Retinitis Pigmentosa 71
Optic disc pallor, Elevated hepatic transaminase, Pancreatitis, Obesity OMIM:616394
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Foot dorsiflexor weakness, Obesity OMIM:618124
Hyperostosis Frontalis Interna
Obesity OMIM:144800
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Distal Monosomy 12Q
Bulbous nose, Failure to thrive in infancy, Congenital hypertrophy of left ventricle, Vesicourete... ORPHA:96149
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent otitis... OMIM:615518
Short Stature, Microcephaly, And Endocrine Dysfunction
Convex nasal ridge, Cryptorchidism, Tooth malposition, Renal hypoplasia, Micropenis, Lymphopenia,... OMIM:616541
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Nasal polyposis, Chronic rhinitis, Sinusitis OMIM:242670
Hermansky-Pudlak Syndrome 10
Macrotia, Cerebral atrophy, Neutropenia, Smooth philtrum, Low-set ears, Abnormal pulmonary inters... OMIM:617050
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Situs inversus totalis, Bronchiectasis, Nasal polyposis, Abnormal axonemal org... OMIM:613808
Cantu Syndrome
Long philtrum, Thick lower lip vermilion, Pericardial effusion, Thick upper lip vermilion, Wide n... OMIM:239850
2Q37 Microdeletion Syndrome
Thin vermilion border, Underdeveloped nasal alae, Downturned corners of mouth, Conductive hearing... ORPHA:1001
48,Xxyy Syndrome
Open bite, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Delayed eruption of ... ORPHA:10
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, Oral ulcer, H... OMIM:232220
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors