Gene Summary

Name:
spalt like transcription factor 3
Synonyms:
B130022O04Rik,  Salt,  Spalt,  Msal,  Msal-1

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
increased cardiac muscle contractility Sall3tm1.1(KOMP)Mbp HET Early adult 4.91×10-05
abnormal heart morphology Sall3tm1.1(KOMP)Mbp HET Early adult 0.00
abnormal uterus morphology Sall3tm1.1(KOMP)Mbp HET Early adult 0.00
abnormal testis morphology Sall3tm1.1(KOMP)Mbp HET Early adult 0.00
enlarged lymph nodes Sall3tm1.1(KOMP)Mbp HET Early adult 0.00
enlarged thymus Sall3tm1.1(KOMP)Mbp HET Early adult 0.00
abnormal thymus morphology Sall3tm1.1(KOMP)Mbp HET Early adult 0.00
abnormal caudal vertebrae morphology Sall3tm1.1(KOMP)Mbp HET   Early adult 1.35×10-05
abnormal skin morphology Sall3tm1.1(KOMP)Mbp HET Early adult 0.00
small testis Sall3tm1.1(KOMP)Mbp HET Early adult 0.00
enlarged heart Sall3tm1.1(KOMP)Mbp HET Early adult 0.00
hyperactivity Sall3tm1.1(KOMP)Mbp HET   Early adult 1.74×10-05
enlarged testis Sall3tm1.1(KOMP)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Sall3tm1.1(KOMP)Mbp HOM   Early adult 0.00
abnormal lymph node morphology Sall3tm1.1(KOMP)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 0.0% (0 of 2)
Aorta  Section images heterozygote 0.0% (0 of 2)
Bone  Section images heterozygote 0.0% (0 of 2)
Brain  Section images heterozygote 0.0% (0 of 2)
Brainstem  Section images heterozygote 0.0% (0 of 2)
Brown adipose tissue  Section images heterozygote 0.0% (0 of 2)
Cartilage tissue  Section images heterozygote 0.0% (0 of 2)
Cecum  Section images heterozygote 0.0% (0 of 2)
Cerebellum  Section images heterozygote 0.0% (0 of 2)
Cerebral cortex  Section images heterozygote 0.0% (0 of 2)
Chest bone  Section images heterozygote 0.0% (0 of 2)
Colon  Section images heterozygote 0.0% (0 of 2)
Cranium  Section images heterozygote 0.0% (0 of 2)
Diaphragm  Section images heterozygote 0.0% (0 of 2)
Duodenum  Section images heterozygote 0.0% (0 of 2)
Esophagus  Section images heterozygote 0.0% (0 of 2)
Eye  Section images heterozygote 0.0% (0 of 2)
Gall bladder  Section images heterozygote 0.0% (0 of 2)
Harderian gland  Section images heterozygote 0.0% (0 of 2)
Heart  Section images heterozygote 0.0% (0 of 2)
Hippocampus  Section images heterozygote 0.0% (0 of 2)
Hypothalamus  Section images heterozygote 0.0% (0 of 2)
Ileum  Section images heterozygote 0.0% (0 of 2)
Jejunum  Section images heterozygote 0.0% (0 of 2)
Kidney  Section images heterozygote 0.0% (0 of 2)
Large intestine  Section images heterozygote 0.0% (0 of 2)
Liver  Section images heterozygote 0.0% (0 of 2)
Lower urinary tract  Section images heterozygote 0.0% (0 of 2)
Lung  Section images heterozygote 0.0% (0 of 2)
Lymph node  Section images heterozygote 0.0% (0 of 2)
Mammary gland  Section images heterozygote 0.0% (0 of 2)
Olfactory lobe  Section images heterozygote 0.0% (0 of 2)
Oral epithelium  Section images heterozygote 0.0% (0 of 2)
Ovary  Section images heterozygote Not available
Oviduct  Section images heterozygote 0.0% (0 of 2)
Pancreas  Section images heterozygote 0.0% (0 of 2)
Parathyroid gland  Section images heterozygote Ambiguous
Penis  Section images heterozygote 0.0% (0 of 2)
Peripheral nervous system  Section images heterozygote 0.0% (0 of 2)
Peyer's patch  Section images heterozygote 0.0% (0 of 2)
Pituitary gland  Section images heterozygote 0.0% (0 of 2)
Prostate gland  Section images heterozygote Not available
Quadriceps  Section images heterozygote 0.0% (0 of 2)
Skeletal muscle  Section images heterozygote 0.0% (0 of 2)
Skin  Section images heterozygote 0.0% (0 of 2)
Small intestine  Section images heterozygote 0.0% (0 of 2)
Spinal cord  Section images heterozygote 0.0% (0 of 2)
Spleen  Section images heterozygote 0.0% (0 of 2)
Stomach  Section images heterozygote 0.0% (0 of 2)
Striatum  Section images heterozygote 0.0% (0 of 2)
Submandibular gland  Section images heterozygote Ambiguous
Testis  Section images heterozygote Not available
Thymus  Section images heterozygote 0.0% (0 of 2)
Thyroid gland  Section images heterozygote Ambiguous
Tongue  Section images heterozygote Ambiguous
Trachea  Section images heterozygote 0.0% (0 of 2)
Urinary bladder  Section images heterozygote 0.0% (0 of 2)
Uterus  Section images heterozygote 0.0% (0 of 2)
Vagina  Section images heterozygote 0.0% (0 of 2)
Vascular system  Section images heterozygote 0.0% (0 of 2)
White adipose tissue  Section images heterozygote 0.0% (0 of 2)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote Not available
Epididymis N/A heterozygote Not available
Gonadal fat pad N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Main olfactory bulb N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote Not available
Parotid gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Sublingual gland N/A heterozygote Not available
Thalamus N/A heterozygote Not available
Trigeminal V nerve N/A heterozygote Not available
Vas deferens N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote Ambiguous
Eye N/A heterozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Lower leg N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
Chorioallantoic placenta N/A heterozygote Not available
Skeleton N/A heterozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Upper arm N/A heterozygote 0.0% (0 of 2)
Upper leg N/A heterozygote 0.0% (0 of 2)
Vibrissa N/A heterozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
lower leg Ambiguous
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
tail 0.0%
tail somite group 0.0%
upper arm Ambiguous
upper leg Ambiguous
vibrissa Ambiguous

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

Adult LacZ

LacZ Images Section

284 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Human diseases caused by Sall3 mutations

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

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

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

The table below shows human diseases predicted to be associated to Sall3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Facial palsy, Dysphagia OMIM:617732
Melkersson-Rosenthal Syndrome
Facial edema, Facial palsy, Furrowed tongue OMIM:155900
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Kyphoscoliosis, Cardiomegaly OMIM:300886
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... ORPHA:3000
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Mitral valve prolapse, Scoliosis, Recur... OMIM:300624
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Hepatic Venoocclusive Disease With Immunodeficiency
Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Kyphoscoliosis, Congestive heart failure, Abnormal ... ORPHA:3077
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Benign Schwannoma
Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth... ORPHA:252164
Megalencephaly
Macroorchidism, Atrial septal defect, Long penis, Short neck ORPHA:2477
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Burning Mouth Syndrome
Abnormality of taste sensation, Abnormal fifth cranial nerve morphology, Parageusia, Impaired tem... ORPHA:353253
Spastic Paraplegia 81, Autosomal Recessive
Ankle clonus, Optic atrophy, Bifid uvula, Cleft palate OMIM:618768
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Dysesthesia, Cranial nerve compression, Abnormality of the vestibulo... ORPHA:268882
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Villous atrophy, Abnormal intestine morphology, Dehydration OMIM:251850
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Impulsivity, Tremor, Chorea, Optic atrophy, Dysphagia, Focal dystonia, Compulsive... ORPHA:216873
Adducted Thumbs Syndrome
Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, D... OMIM:201550
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Arthrogryposis, Distal, Type 1C
Hip contracture, Pursed lips, Camptodactyly of finger, Cleft lip, Increased nuchal translucency, ... OMIM:619110
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism, Abnormal heart morphology, Atrial septal defect, Atrioventricular ... DECIPHER:39
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Partington Syndrome
Macroorchidism, Facial telangiectasia ORPHA:94083
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Easily subluxated first metacarpophalangeal joints, Cleft pa... OMIM:311895
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Cardiomegaly, Congestive heart failure, ... ORPHA:324410
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula, Attention deficit hyperactivity disorder OMIM:300850
Fragile X Syndrome
Macroorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder, Mitral valve p... ORPHA:908
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Lujan-Fryns Syndrome
Macroorchidism, Atrial septal defect, Scoliosis, Attention deficit hyperactivity disorder ORPHA:776
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Lethal Congenital Contracture Syndrome 8
Death in infancy, Polyhydramnios, Oral-pharyngeal dysphagia, Distal sensory impairment, Facial di... OMIM:616287
Chronic Hiccup
Dehydration, Abnormal eating behavior ORPHA:396
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Mantle Cell Lymphoma
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:52416
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Xp22.13P22.2 Duplication Syndrome
Short neck, Polycystic ovaries, Scoliosis, Attention deficit hyperactivity disorder, Macroorchidism ORPHA:284180
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... ORPHA:85327
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Uvula, Bifid
Bifid uvula OMIM:192100
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Hartnup Disorder
Episodic ataxia, Hyperactivity, Glossitis, Attention deficit hyperactivity disorder OMIM:234500
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Kyphoscoliosis, Short neck, Scoliosis, Bruxism, Macroorchidism, Male hypogonadism OMIM:300055
Clark-Baraitser syndrome
Macroorchidism, Kyphosis, Scoliosis OMIM:300602
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Dental crowding, High, narrow palate, Velopharyngeal insufficiency, Dow... OMIM:619941
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Dysesthesia, Cranial nerve compression, Schwannoma, Abnormal glossopha... ORPHA:221098
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Satb2-Associated Syndrome Due To A Pathogenic Variant
Thin upper lip vermilion, Abnormality of the dentition, Celiac disease, Cleft palate, Dysphagia, ... ORPHA:576283
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Optic atrophy, Dehydration, Choreoathetosis, Dystonia ORPHA:79312
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Velopharyngeal in... ORPHA:199306
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Dysphagia, Dehydration, Long philtrum OMIM:618958
Ethanolaminosis
Cardiomegaly OMIM:227150
Chromosome 22Q11.2 Duplication Syndrome
Velopharyngeal insufficiency, High palate OMIM:608363
Kleefstra Syndrome 2
Kyphosis, Self-injurious behavior, Everted lower lip vermilion, Scoliosis, Bifid uvula OMIM:617768
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Ankle clonus, Bifid uvula, Cleft palate ORPHA:506353
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Bifid uvula, Long philtrum OMIM:615942
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Ataxia, Kyphosis, Dental malocclusion, Horner syndrome... OMIM:141300
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Thin upper lip vermilion, Aggressive behavior, Abnormal repetitive mannerisms, Truncal ataxia, Dy... OMIM:619121
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate, Abnormal form of the vertebral bodies ORPHA:3104
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Vertebral fusion, Lumbar hyperlordosis, Thoracic kyphoscoliosis... ORPHA:313892
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Conge... OMIM:235200
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Zimmermann-Laband Syndrome 3
Kyphosis, Thick lower lip vermilion, Gingival overgrowth, High palate, Bifid uvula OMIM:618658
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Familial Cold Urticaria
Dysesthesia, Arthritis, Polydipsia, Dehydration ORPHA:47045
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy, Axonal degeneration, Scoliosis, Distal sensory impairment OMIM:616155
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Elevated circulating growth hormo... ORPHA:562
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... ORPHA:2919
Transient Neonatal Diabetes Mellitus
Macroglossia, Dehydration ORPHA:99886
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Kyphoscoliosis, Carious teeth, Elbow flexion contracture, Dehydration,... OMIM:214150
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic h... ORPHA:100083
Smith-Magenis Syndrome
Everted upper lip vermilion, Hyperactivity, Abnormality of the dentition, Impaired pain sensation... OMIM:182290
Kerion Celsi
Lymphadenopathy ORPHA:499
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Hyperactivity, Ventricular septal defect, Aggressive behavior, Compulsive b... OMIM:309520
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Lumb... OMIM:601492
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Coffin-Siris Syndrome 8
Hyperactivity, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Scoliosis OMIM:618362
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormal lymph node morphology, Decreased... ORPHA:543
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Ataxia, Optic atrophy, Dehydration ORPHA:27
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Optic dis... OMIM:174300
Hereditary Angioedema Type 1
Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Abnormal soft pal... ORPHA:100050
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Tonne-Kalscheuer Syndrome
Aggressive behavior, Tremor, Velopharyngeal insufficiency, Dysphagia, Downturned corners of mouth... OMIM:300978
Distal Deletion 17Q
Prominent metopic ridge, Abnormality of the philtrum, Aplasia/Hypoplasia of the uvula, Optic atro... ORPHA:1597
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Dysphagia, Kyphoscoliosis, Knee flexion contracture ORPHA:496689
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Ovoid thoracolumbar... OMIM:252920
Catel-Manzke Syndrome
Camptodactyly of finger, Cleft palate, Glossoptosis, Scoliosis, Oral synechia ORPHA:1388
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Optic disc coloboma,... ORPHA:92050
Central Diabetes Insipidus
Polydipsia, Dehydration, Anorexia ORPHA:178029
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Ataxia, Aggressive behavior, Decreased nerve conduction velocity, Cleft palate, Dysmetria, Glosso... OMIM:618356
Melkersson-Rosenthal Syndrome
Facial palsy, Edema, Periorbital edema, Cheilitis, Furrowed tongue, Macroglossia, Abnormal autono... ORPHA:2483
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Death in infancy OMIM:614876
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Facial palsy, Dysphagia OMIM:158900
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Epilepsy, Progressive Myoclonic, 9
Microglossia, Scoliosis, Gait ataxia OMIM:616540
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis ORPHA:3055
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Anorexia, Lymphadenopathy ORPHA:86893
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Furrowed tongue ORPHA:2743
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Enter... ORPHA:95427
Central Precocious Puberty In Male
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Attention deficit hy... ORPHA:649929
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... ORPHA:884
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... ORPHA:444463
Stickler Syndrome, Type Ii
Arthropathy, High, narrow palate, Pierre-Robin sequence, Cleft palate, Bifid uvula OMIM:604841
Hypomandibular Faciocranial Dysostosis
Death in infancy, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Polyhydramnios, Optic disc ... ORPHA:1790
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft palate, Gl... OMIM:620269
Combined Malonic And Methylmalonic Acidemia
Dehydration, Dystonia ORPHA:289504
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Cleft upper lip, Aggressive behavior, Cleft palate, Scoliosis, Bifid uvula OMIM:300958
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Cri-Du-Chat Syndrome
Hyperactivity, Aggressive behavior, Self-mutilation, Thick lower lip vermilion, Optic atrophy, Or... OMIM:123450
Solar Urticaria
Edema, Periorbital edema, Abnormal tongue morphology, Angioedema, Abnormal lip morphology ORPHA:97230
Trisomy 20P
Hypospadias, Short neck, Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Vertebr... ORPHA:261318
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... ORPHA:319487
Auriculocondylar Syndrome 2A
Dental crowding, Narrow mouth, Mandibular condyle aplasia, Dental malocclusion, Cleft palate, Glo... OMIM:614669
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate, Oral-pharyngeal dysphagia ORPHA:99772
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Reticular Dysgenesis
Dehydration, Malabsorption ORPHA:33355
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Cleft lip, Narrow mouth, Cleft palate, Downturned corners of mouth, Everted lower ... OMIM:618089
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cryptorchidism, Repetitive compulsive behavior, Kyphosis, Abnormal heart morpholog... ORPHA:352490
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... ORPHA:97290
Enteric Anendocrinosis
Dehydration, Malabsorption ORPHA:83620
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations, Dysphagia OMIM:613435
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Axonal degeneration, Impaired vibration sensation in the lo... ORPHA:88628
Spinocerebellar Ataxia Type 36
Tongue atrophy, Ataxia, Dysmetria, Hand tremor, Limb ataxia, Dysphagia, Tongue fasciculations, He... ORPHA:276198
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Agenesis of mandibular central incisor, 4-5 metacarpal synostosis, Hip dislocati... OMIM:268305
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Mitral valve prolapse OMIM:618874
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, Dysphagia... ORPHA:530
Bilateral Polymicrogyria
Wide mouth, Facial diplegia, Abnormal glossopharyngeal nerve morphology, Pseudobulbar paralysis, ... ORPHA:268940
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Tongue atrophy, Somatic sensor... ORPHA:101085
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Absent uvula, Knee flexion contracture OMIM:616531
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Dehydration OMIM:616069
Harlequin Ichthyosis
Eclabion, Self-injurious behavior, Dehydration ORPHA:457
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Edema, Dehydration ORPHA:103910
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Alternating Hemiplegia Of Childhood
Exaggerated cupid's bow, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Aggressive behavior... ORPHA:2131
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial palsy, Hyperlordosis, Facial diplegia, High palate, Narrow mouth, Bifid u... ORPHA:169186
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Contracture of the proximal interphalangeal joint of the 2nd finger, Sagittal cranio... ORPHA:2872
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Ataxia, Facial palsy, Kyphosis, Truncal ataxia, Dysphagia, Ankle clonus, Tongue f... OMIM:211530
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Congenital Short Bowel Syndrome
Intestinal malrotation, Dehydration, Steatorrhea, Congenital shortened small intestine, Intestina... OMIM:615237
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate ORPHA:2521
Autosomal Agammaglobulinemia
Arthritis, High palate, Dehydration, Malabsorption ORPHA:33110
Auriculocondylar Syndrome
Dental crowding, Hamartoma of tongue, Narrow mouth, Mandibular condyle aplasia, Dental malocclusi... ORPHA:137888
Coffin-Siris Syndrome 11
Prominent metopic ridge, Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide... OMIM:618779
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Orofaciodigital Syndrome Xiv
Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Optic disc coloboma, Aplasia of... OMIM:615948
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atria... OMIM:618652
Whistling Face Syndrome, Recessive Form
Kyphoscoliosis, Whistling appearance, Elbow flexion contracture, Knee flexion contracture, High p... OMIM:277720
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Osteoarthritis, Cleft palate, Long philtrum ORPHA:166100
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Camptodactyly of finger, Kyphoscoliosis, Dental malocclusion, Irregula... OMIM:612350
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Intestinal malrotation, Kyphosis, Deep philtrum, Cleft palate, Downturn... ORPHA:404440
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Myopathy, Centronuclear, 5
Hip contracture, High palate, Bifid uvula, Narrow mouth OMIM:615959
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in adolescence, Ataxia, Dehydration, Death in childhood OMIM:560000
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Camptodactyly of finger, Furrowed tongue ORPHA:2928
Partial Androgen Insensitivity Syndrome
Fused labia majora, Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Moebius Syndrome
Abnormality of the dentition, Facial diplegia, Dysdiadochokinesis, High palate, Dysphagia, Bifid ... OMIM:157900
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymphatic system, Abnormal lymph node morphology, Abnormal testi... ORPHA:54251
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... OMIM:614841
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Orofaciodigital Syndrome Iii
Kyphosis, Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Hypogonadism, Dysphagia... OMIM:160900
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Mediastinal lymphadenopathy, Ovarian... ORPHA:83469
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Pleural Mesothelioma
Hepatomegaly, Abnormal cardiovascular system physiology, Dysphagia, Lymphadenopathy ORPHA:50251
Temple Syndrome
Polyphagia, Bifid uvula, Scoliosis ORPHA:254516
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Aplasia/Hypoplasia of the uvula, High, narrow palate, Genu valgum, Long ... ORPHA:2496
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Impotence, Arrhythmia ORPHA:85447
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Optic atrophy, High palate, Joint contracture of the hand, Bifid uvula OMIM:601110
Plummer-Vinson Syndrome
Tongue atrophy, Geophagia, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Na... ORPHA:54028
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Dehydration OMIM:610600
Birk-Barel Syndrome
Tented upper lip vermilion, High palate, Short philtrum, Dysphagia, Submucous cleft soft palate, ... OMIM:612292
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin upper lip vermilion, Death in infancy, Tented upper lip vermilion, Bilateral cleft lip, Deep... OMIM:618622
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Ring Chromosome 22 Syndrome
Edema, Lymphedema, Protruding tongue, Impaired pain sensation, Neurofibroma, Gait ataxia, Inappro... ORPHA:1446
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Roifman Syndrome
Noncompaction cardiomyopathy, Biconvex vertebral bodies, Hypogonadotropic hypogonadism, Eosinophi... ORPHA:353298
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Ventricular septal defect, Aggressive behavior, Precocious puberty, Cryptorchidism... ORPHA:3306
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Amed Syndrome, Digenic
Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone ma... OMIM:619151
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Camptodactyly of finge... OMIM:114300
Congenital Myopathy 8
Congestive heart failure, Scoliosis, Cardiomegaly OMIM:618654
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Submucous cleft hard palate, Bifid uvula OMIM:619239
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Enlarged joints, Lumbar hyperlordosis, Polyhydramnios, Osteoarthri... ORPHA:1427
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosple... OMIM:209950
Cystinosis
Polydipsia, Abnormal repetitive mannerisms, Dehydration, Malabsorption ORPHA:213
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula OMIM:155145
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Prominent metopic ridge, Craniosynostosis, Impaired pain sensation, Increased nuchal translucency... ORPHA:453499
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogonadism,... ORPHA:465508
Tick-Borne Encephalitis
Somatic sensory dysfunction, Facial palsy, Anorexia, Tremor, Abnormal glossopharyngeal nerve morp... ORPHA:297
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hyperlordosis, Furrowed tongue, High palate, Short philtrum, Scoliosis, Everted lower lip vermili... ORPHA:1387
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Impulsivity, Increased circulating g... ORPHA:99330
Lamellar Ichthyosis
Everted lower lip vermilion, Dehydration, Abnormality of the dentition ORPHA:313
Roifman Syndrome
Hepatomegaly, Noncompaction cardiomyopathy, Biconvex vertebral bodies, Ventricular septal defect,... OMIM:616651
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Abnormal lymph... OMIM:612840
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes OMIM:269920
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:618261
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... ORPHA:860
Alg3-Cdg
Macroglossia, Abnormal uvula morphology, High palate, Dystonia ORPHA:79321
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Orofaciodigital Syndrome Type 14
Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth, Cleft palate, Aplasia of the e... ORPHA:434179
Spinocerebellar Ataxia 36
Tongue atrophy, Ataxia, Limb ataxia, Gait ataxia, Dysphagia, Tongue fasciculations, Truncal ataxia OMIM:614153
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Kyphosis, Optic atrophy, Dysmetria, Knee flexion contracture, Dysphagia,... OMIM:619708
Dend Syndrome
Downturned corners of mouth, Prominent metopic ridge, Dehydration, Long philtrum ORPHA:79134
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy ORPHA:100025
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Facial palsy, Hyperlordosis, High, narrow palate, Submucous cleft hard... ORPHA:2780
Glucose/Galactose Malabsorption
Hypertonic dehydration, Malabsorption OMIM:606824
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, Cleft palate, High palate, Short philtrum, Scoliosis, Narrow mouth, Bifid uvula ORPHA:96184
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Burn-Mckeown Syndrome
Cleft upper lip, Cleft palate, Thin vermilion border, Short philtrum, Narrow mouth, Bifid uvula OMIM:608572
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia ORPHA:37748
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... ORPHA:2041
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Stickler Syndrome, Type I
Arthropathy, Kyphosis, Osteoarthritis, Submucous cleft hard palate, Pierre-Robin sequence, Cleft ... OMIM:108300
Temple Syndrome
Cleft palate, Short philtrum, High palate, Scoliosis, Bifid uvula OMIM:616222
Hypomandibular Faciocranial Dysostosis
Pursed lips, Coronal craniosynostosis, Optic disc coloboma, Aglossia OMIM:241310
White-Sutton Syndrome
Hyperactivity, Optic nerve hypoplasia, Aggressive behavior, Cleft palate, Hypoplastic cervical ve... OMIM:616364
Emanuel Syndrome
Delayed eruption of teeth, Congenital hip dislocation, Dental crowding, Kyphoscoliosis, Submucous... ORPHA:96170
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
X-Linked Dystonia-Parkinsonism
Resting tremor, Protruding tongue, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blephar... ORPHA:53351
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... OMIM:115197
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy OMIM:618982
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h... OMIM:614701
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Death in child... OMIM:612938
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Gastrointestinal hemorrhage, Primary testicular failure, Congesti... ORPHA:85450
Cardiac-Urogenital Syndrome
Bifid scrotum, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hyposp... OMIM:618280
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder, Patent... OMIM:617182
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue, Short philtrum, Abnormal... OMIM:613443
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Telangiectasia of the skin, Cryptorchidism, Leuk... ORPHA:99812
Gm1-Gangliosidosis, Type Ii
Ataxia, Protruding tongue, Optic atrophy, Gingival overgrowth, Dysphagia, Hypoplastic vertebral b... OMIM:230600
Beta-Ketothiolase Deficiency
Ataxia, Anorexia, Edema, Dehydration, Agitation, Oral aversion ORPHA:134
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Accessory oral frenulum, Polyhydramnios, Supernumerary tooth, Aplasia of the ep... OMIM:617088
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... OMIM:200990
Congenital Fibrinogen Deficiency
Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Left ventricular hyp... ORPHA:335
Cronkhite-Canada Syndrome
Intestinal polyposis, Anorexia, Malabsorption, Lymphedema, Hypogeusia, Furrowed tongue, Hamartoma... ORPHA:2930
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... OMIM:222300
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Deep philtrum, Dehydration, Gingivitis, Periodontitis, Compulsive behaviors, Abn... ORPHA:534
Aspartylglucosaminuria
Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Mitral regurgitation, Platyspondyly, Spondylolysi... OMIM:208400
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Dehydration ORPHA:556030
Stankiewicz-Isidor Syndrome
Hyperactivity, Sacral dimple, Hypospadias, Truncus arteriosus, Ventricular septal defect, Cryptor... OMIM:617516
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Delayed closure of the anterior fontanelle, ... OMIM:607812
Angelman Syndrome Due To A Point Mutation
Ataxia, Protruding tongue, Abnormal eating behavior, Tongue thrusting, Wide mouth, Widely spaced ... ORPHA:411511
Hydrolethalus
Polyhydramnios, Submucous cleft hard palate, Gingival cleft, Cleft palate, Unilateral cleft lip, ... ORPHA:2189
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic... OMIM:609981
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Hyperphosphatasia-Intellectual Disability Syndrome
Tented upper lip vermilion, Aganglionic megacolon, Ataxia, Anteriorly placed anus, Downturned cor... ORPHA:247262
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Kyphoscoliosis, Cardiomegaly, Kyphosis, Cardiom... OMIM:300280
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Vertebral segmen... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Vertebral segmen... ORPHA:352665
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Hyperactivity, Ataxia, Protruding tongue, Tremor, Abnormal eati... ORPHA:98794
Hypoglossia-Hypodactyly Syndrome
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, H... ORPHA:989
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Primary amenorrhea... OMIM:300510
Zimmermann-Laband Syndrome
Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocclusion, Macrog... ORPHA:3473
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ... OMIM:602782
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Congenital thromboc... OMIM:618886
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ... ORPHA:100080
Carey-Fineman-Ziter Syndrome
Laryngeal stenosis, Facial palsy, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft ... ORPHA:1358
Pai Syndrome
Median cleft lip, Bifid uvula, Cleft palate, Abnormal oral frenulum morphology ORPHA:1993
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Sacral dimple, Impulsivity, Hyperlordosis, Precocious puberty, Short neck, Agitation, Attention d... OMIM:619950
Meacham Syndrome
Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Abn... ORPHA:3097
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Polyhydramnios, Tremor, Dehydration, Opisthotonus, Choreoathetosis, Dystonia OMIM:616271
Limb-Mammary Syndrome
Hypodontia, Joint contracture of the hand, Bifid uvula, Cleft palate OMIM:603543
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Propionic Acidemia
Dehydration, Dystonia OMIM:606054
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Pulmonic stenosis, Facial telangiectasia, Attent... OMIM:620141
16P12.1P12.3 Triplication Syndrome
Nail-biting, Tachycardia, Hyperactivity, Decreased response to growth hormone stimulation test, B... ORPHA:485405
Buratti-Harel Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula OMIM:619314
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Short neck, Bilateral cryptorchidism, Cryptorchid... OMIM:305400
Auriculocondylar Syndrome 1
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... OMIM:602483
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytope... ORPHA:277
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Aspartylglucosaminuria
Hepatomegaly, Splenomegaly, Anterior beaking of lumbar vertebrae, Scoliosis, Macroorchidism, Beak... ORPHA:93
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Neuhauser Syndrome
Genu recurvatum, Ataxia, Dysphagia, Genu valgum, High palate, Long philtrum, Bifid uvula OMIM:249310
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Cervical lympha... OMIM:614034
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hyper... OMIM:252900
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Isovaleric Acidemia
Dehydration OMIM:243500
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Thrombocytope... ORPHA:507
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Joint dislocation, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Glo... ORPHA:3201
Tarp Syndrome
Optic atrophy, Cleft palate, Tongue nodules, Glossoptosis, Athetosis, High palate, Neonatal death... OMIM:311900
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Cryptorchidism, Polyphagia, Self-injurious behavior, Abnormal... ORPHA:228402
Thyroid Lymphoma