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Gene: Ntrk2 MGI:97384

Gene Summary

Name:

neurotrophic tyrosine kinase, receptor, type 2

Synonyms:

trkB, Tkrb, C030027L06Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
preweaning lethality, incomplete penetrance	Ntrk2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased lean body mass	Ntrk2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.21×10^-06
abnormal rib morphology	Ntrk2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	3.23×10^-05
increased circulating HDL cholesterol level	Ntrk2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	4.98×10^-05
decreased prepulse inhibition	Ntrk2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.92×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

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

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

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

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

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

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

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

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

View images

Echo

M-Mode Images

32 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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MicroCT E18.5

Embryo reconstruction

1 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

View images

Adult LacZ

LacZ Images Wholemount

6 Images

View images

Auditory Brain Stem Response

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

3 Images

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Immunophenotyping

Panel A FCS file(s)

8 Images

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Immunophenotyping

Panel B FCS file(s)

8 Images

View images

Human diseases caused by Ntrk2 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.

Human diseases associated with Ntrk2 (4 diseases)
Human diseases predicted to be associated with Ntrk2 (925 diseases)

The table below shows human diseases associated to Ntrk2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Developmental And Epileptic Encephalopathy 58	Optic atrophy	OMIM:617830
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Abnormality of vision, Downslanted palpebral fissures, Tremor, Retinal degeneratio...	ORPHA:442835
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Motor stereotypy	OMIM:613886
Infantile Spasms Syndrome		ORPHA:3451

The table below shows human diseases predicted to be associated to Ntrk2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Deafness, Autosomal Dominant 87	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment	OMIM:620281
Major Depressive Disorder	Depression	OMIM:608516
Major Affective Disorder 1	Depression, Mania	OMIM:125480
Delayed Puberty, Self-Limited	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre...	OMIM:619613
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm...	OMIM:619755
Deafness, Autosomal Dominant 9	Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual...	OMIM:601369
Deafness, Autosomal Dominant 85	Cochlear nerve hypoplasia, Sensorineural hearing impairment	OMIM:620227
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca...	OMIM:618013
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi...	OMIM:609968
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:614839
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulat...	OMIM:614842
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet...	OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Schwannomatosis 1	Vestibular schwannoma, Peripheral schwannoma	OMIM:162091
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu...	OMIM:616030
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ...	OMIM:600791
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec...	OMIM:620651
Deafness, Autosomal Dominant 75	Abnormal cochlea morphology, Sensorineural hearing impairment	OMIM:618778
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Self-injurious behavior, Decreased compound muscle action potential amplitude, Vestibular schwannoma	OMIM:613641
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Obesity Due To Prohormone Convertase I Deficiency	Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ...	ORPHA:71526
Acute Zonal Occult Outer Retinopathy	Abnormal choroid morphology, Reduced visual acuity, Abnormal retinal vascular morphology, Rod-con...	ORPHA:284454
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ...	OMIM:606762
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty...	OMIM:619326
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Polyc...	ORPHA:280356
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ...	OMIM:614897
Deafness, Autosomal Dominant 44	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:607453
Deafness, Autosomal Dominant 86	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:620280
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl...	OMIM:613986
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato...	ORPHA:79084
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit...	OMIM:620303
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho...	OMIM:619274
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline...	ORPHA:263458
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia	OMIM:202150
Obesity Due To Melanocortin 4 Receptor Deficiency	Obesity, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased ...	ORPHA:71529
Cervical Rib	Cervical ribs	OMIM:117900
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Congenital Glucokinase-Related Hyperinsulinism	Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell...	ORPHA:79299
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo...	OMIM:308750
Deafness, Autosomal Dominant 77	Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment	OMIM:618915
46,Xy Sex Reversal 5	Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating...	OMIM:613080
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Intrauterine growth retardation, Pachygyria, Agyria, Gray matter heterotopia, Subcortical band he...	OMIM:615411
Insulinomatosis And Diabetes Mellitus	Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h...	OMIM:147630
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Type II diabetes mellitus, Hy...	ORPHA:453533
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia...	OMIM:308700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ...	ORPHA:293964
Lissencephaly, X-Linked, 1	Postnatal growth retardation, Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter hetero...	OMIM:300067
Obesity And Hypopigmentation	Obesity, Hepatic steatosis, Hyperinsulinemia	OMIM:620195
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk...	ORPHA:411593
Opticocochleodentate Degeneration	Optic atrophy, Hearing impairment, Cochlear degeneration	OMIM:258700
Chudley-Mccullough Syndrome	Polymicrogyria, Dysplastic corpus callosum, Hydrocephalus, Gray matter heterotopia, Partial agene...	OMIM:604213
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci...	OMIM:610600
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Failure to thrive, Hypoglycemia	OMIM:606528
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity, Hyperinsulinemia	ORPHA:329249
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Large for gestational age, Excessive insulin response to gl...	ORPHA:324575
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Cortisone Reductase Deficiency 2	Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche	OMIM:614662
Body Mass Index Quantitative Trait Locus 20	Obesity, Hyperinsulinemia	OMIM:618406
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Lissencephaly 1	Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly	OMIM:607432
Spinocerebellar Ataxia, Autosomal Recessive 3	Hearing impairment, Cochlear degeneration	OMIM:271250
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess...	ORPHA:276580
Glucocorticoid Deficiency 5	Decreased circulating cortisol level, Abnormal response to ACTH stimulation test	OMIM:617825
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy, Hyperactivity, Macrotia	OMIM:300928
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Late-Onset Familial Hypoaldosteronism	Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo...	ORPHA:556037
Arnold-Chiari Malformation Type I	Functional abnormality of the inner ear, Cranial nerve compression, Vertigo, Abnormality of the v...	ORPHA:268882
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess...	ORPHA:276575
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia	ORPHA:35878
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Decreased circulating luteinizing hormone level, Delayed puberty, Hypogonadotropic hypogonadism, ...	OMIM:619761
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Astrocytoma, Glioblastoma multiforme, Agenesis of corpus callosum	OMIM:619101
Sub-Cortical Nodular Heterotopia	Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia, Agenesis of corpus ca...	ORPHA:101029
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Lissencephaly 3	Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosum, Pachygyria, Agy...	OMIM:611603
Early-Onset Familial Hypoaldosteronism	Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo...	ORPHA:556030
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Gliosis, Amyotrophic lateral sclerosis	OMIM:300857
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Gliosis,...	OMIM:105550
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner...	ORPHA:705
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete...	OMIM:616033
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Glycogen Storage Disease Vi	Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia	OMIM:232700
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level	OMIM:103900
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:616950
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H...	OMIM:620211
Cherubism	Marcus Gunn pupil, Constriction of peripheral visual field, Reduced visual acuity, Lower eyelid r...	OMIM:118400
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Microlissencephaly	Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ...	ORPHA:1083
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Body Mass Index Quantitative Trait Locus 19	Increased serum leptin, Obesity, Insulin resistance, Hyperinsulinemia	OMIM:617885
Obesity Due To Sim1 Deficiency	Obesity, Glucose intolerance, Hyperinsulinemia	ORPHA:369873
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Huntington Disease	Cerebellar atrophy, Gliosis, Neuronal loss in central nervous system	OMIM:143100
Hemimegalencephaly	Polymicrogyria, Abnormal neuron morphology, Gliosis, Pachygyria, Gray matter heterotopia	ORPHA:99802
Developmental And Epileptic Encephalopathy 71	Gliosis, Simplified gyral pattern	OMIM:618328
Developmental And Epileptic Encephalopathy 14	Cerebral cortical atrophy, Gliosis, Neuronal loss in central nervous system	OMIM:614959
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Deafness, X-Linked 2	Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari...	OMIM:304400
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Gliosis, Degeneration of anterior horn cells, Axonal degeneration	OMIM:604484
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Large for gestational age, Excessiv...	ORPHA:276556
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi...	ORPHA:552
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology	DECIPHER:29
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i...	ORPHA:79085
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis...	ORPHA:363400
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Pachygyria, Agyria, Gray matter heterotopia	ORPHA:1084
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Decreased testicular size, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Cryptor...	ORPHA:3085
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia	OMIM:608320
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Astrocytosis	ORPHA:100070
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Band Heterotopia	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Gray ma...	OMIM:600348
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy, Abnormal pinna morphology, Aggressive behavior, Hyperactivity	OMIM:300983
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Neuronal loss in central nervous system, Gliosis, Cerebral atrophy	OMIM:604218
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block, Abnormal motor neuron morphology	DECIPHER:31
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
Glucocorticoid Deficiency 3	Abnormal circulating renin, Increased circulating ACTH level, Decreased circulating aldosterone l...	OMIM:609197
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Lipodystrophy, Familial Partial, Type 2	Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a...	OMIM:151660
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:108420
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy, Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:619470
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration, Hydrocephalus	OMIM:618709
Mpi-Cdg	Hepatic fibrosis, Failure to thrive, Decreased liver function, Portal hypertension, Hypothyroidis...	ORPHA:79319
Maternal Hyperthermia-Induced Birth Defects	Short stature, Intrauterine growth retardation, Abnormality of neuronal migration	ORPHA:2216
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Perlman Syndrome	Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Cryptorchidism, Hepatomegaly, Fe...	ORPHA:2849
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, M...	ORPHA:90793
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi...	OMIM:602588
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o...	ORPHA:435651
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Insuli...	ORPHA:435660
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Decreased serum lept...	OMIM:615238
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Global brain atrophy, Corpus callosum atrophy, Gliosis, Neuronal loss in central nervous system	OMIM:221820
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, H...	ORPHA:263455
Congenital Generalized Lipodystrophy	Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s...	ORPHA:528
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adrenal hy...	OMIM:615830
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,...	OMIM:201910
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Splenomegaly	ORPHA:66518
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased r...	ORPHA:226307
Congenital Arthrogryposis With Anterior Horn Cell Disease	Low-set ears, Abnormal anterior horn cell morphology, Facial diplegia, Neonatal death, Paucity of...	OMIM:611890
Deafness, X-Linked 5, With Peripheral Neuropathy	Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,...	OMIM:300614
Pick Disease Of Brain	Gliosis, Neuronal loss in central nervous system	OMIM:172700
Galactokinase Deficiency	Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hepatomegaly, Small for ge...	ORPHA:79237
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Estrogen Resistance	Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Glucose intolerance, Polycystic ovar...	OMIM:615363
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Abnormal rib morphology	ORPHA:3268
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Gliosis, Cerebral atrophy, Simplified gyral pattern	OMIM:615095
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia	ORPHA:352682
Fraxe Intellectual Disability	Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive...	ORPHA:100973
Leber Congenital Amaurosis 9	Optic atrophy, Color vision defect, Retinal pigment epithelial mottling, Ultra-low vision, Attenu...	OMIM:608553
Donohue Syndrome	Precocious puberty, Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyp...	OMIM:246200
Meningioma	Increased circulating prolactin concentration, Neoplasm of the posterior pituitary, Enlarged pitu...	ORPHA:2495
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology, Dysphagia	OMIM:611637
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Dys...	OMIM:606353
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Hyperc...	OMIM:615703
Branchiootorenal Syndrome 1	Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Incomplete partitio...	OMIM:113650
Frontotemporal Dementia With Motor Neuron Disease	Global brain atrophy, Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphol...	ORPHA:275872
Superficial Siderosis	Bilateral sensorineural hearing impairment, Abnormality of the vestibulocochlear nerve, Vertigo, ...	ORPHA:247245
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co...	ORPHA:3453
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased testicular size, Obesity, Decreased serum leptin	OMIM:614962
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep...	OMIM:604317
Ceroid Lipofuscinosis, Neuronal, 7	Neurodegeneration, Cerebellar atrophy, Cerebral atrophy	OMIM:610951
Thoracic Dysostosis, Isolated	Pectus excavatum, Bell-shaped thorax, Short ribs	OMIM:187750
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre...	OMIM:219080
Chromosome Xq21 Deletion Syndrome	Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea...	OMIM:303110
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration, Intrauterine growth retardation	ORPHA:1980
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori...	OMIM:611584
Mandibuloacral Dysplasia	Insulin resistance, Increased subcutaneous truncal adipose tissue, Contractures of the large join...	ORPHA:2457
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he...	ORPHA:90646
Diaminopentanuria	Neurodegeneration	OMIM:222350
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Caudate atrophy, Gliosis, Cerebral atrophy	OMIM:221770
Usher Syndrome Type 3	Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment	ORPHA:231183
Congenital Neuronal Ceroid Lipofuscinosis	Pachygyria, Abnormal astrocyte morphology, Cerebellar atrophy, Gliosis	ORPHA:168486
Familial Hyperaldosteronism Type Ii	Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid...	ORPHA:404
Spermatogenic Failure 13	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:615841
Immunodeficiency 83, Susceptibility To Viral Infections	Gliosis	OMIM:613002
Familial Hyperaldosteronism Type I	Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre...	ORPHA:403
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline...	ORPHA:79086
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Autosomal Recessive Primary Microcephaly	Growth delay, Pachygyria, Agenesis of corpus callosum, Short stature, Gray matter heterotopia	ORPHA:2512
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Obesity, Bell-shaped thorax, Horizontal ribs, Lateral clavicle ...	OMIM:615633
Sporadic Creutzfeldt-Jakob Disease	Astrocytosis, Gliosis	ORPHA:204
Lissencephaly 5	Occipital encephalocele, Hearing impairment, Type II lissencephaly, Hydrocephalus, Gray matter he...	OMIM:615191
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc...	ORPHA:206484
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebral cortical atrophy, Cerebellar atrophy, Gliosis	OMIM:618369
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Hyperactivity	OMIM:274270
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hyperinsulinemic hypoglycemia, H...	OMIM:602579
Subependymal Nodular Heterotopia	Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality of neuronal migration, Men...	ORPHA:101030
Spinocerebellar Ataxia 17	Diffuse cerebral atrophy, Cerebellar atrophy, Gliosis, Neuronal loss in central nervous system	OMIM:607136
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre...	ORPHA:1501
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs	OMIM:617405
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Dysphagia	ORPHA:247604
Pontocerebellar Hypoplasia, Type 4	Gliosis	OMIM:225753
Distal Deletion 10Q	Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal...	ORPHA:96148
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased serum bile acid concentr...	OMIM:619868
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop...	ORPHA:300373
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Astrocytosis	OMIM:600795
Spinocerebellar Ataxia, Autosomal Recessive 2	Cerebellar vermis atrophy, Gliosis	OMIM:213200
Kyphomelic Dysplasia	Narrow chest, Undulate ribs, Missing ribs, Anterior rib cupping, Short thorax, Lateral clavicle hook	ORPHA:1801
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, De...	OMIM:608594
Usher Syndrome Type 1	Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearing impairment	ORPHA:231169
Benign Schwannoma	Peripheral schwannoma, Vertigo, Schwannoma, Abnormal cranial nerve morphology, Vestibular schwann...	ORPHA:252164
Familial Infantile Bilateral Striatal Necrosis	Astrocytosis, Basal ganglia gliosis	ORPHA:225154
Spermatogenic Failure 14	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:615842
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea...	ORPHA:785
Pigmented Nodular Adrenocortical Disease, Primary, 1	Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,...	OMIM:610489
L-2-Hydroxyglutaric Aciduria	Global brain atrophy, Corpus callosum atrophy, Gliosis, Cerebellar atrophy	OMIM:236792
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsulinemia, Decreased adipo...	OMIM:608612
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Gliosis, Neuronal loss in central nervou...	OMIM:256600
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina...	ORPHA:189427
Behavioral Variant Of Frontotemporal Dementia	Astrocytosis	ORPHA:275864
Acalvaria	Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Gliosis	OMIM:615119
Lissencephaly 6 With Microcephaly	Macrotia, Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Partial ag...	OMIM:616212
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Gray matte...	ORPHA:300573
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level	OMIM:613677
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Astrocytosis	OMIM:611087
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Optic atrophy, Aggressive behavior, Hearing impairment, Hyperactivity	ORPHA:369939
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Intrauterine growth retardation, Periventricular heterotopia, Short stature, Partial agenesis of ...	OMIM:616171
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenogenital syndrome, Adrenal hyperplasia	OMIM:202110
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ...	ORPHA:90790
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Polymicrogyria, Gliosis, Cerebellar gliosis, Basal ganglia gliosis	ORPHA:79243
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Decreased serum leptin...	OMIM:269700
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci...	OMIM:610475
Neurofibromatosis, Type Iii, Mixed Central And Peripheral	Paraspinal neurofibroma, Bilateral vestibular schwannoma, Palmar neurofibroma	OMIM:162260
Boucher-Neuhauser Syndrome	Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration	OMIM:215470
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Neurodegeneration, Diffuse cerebral atrophy, Gliosis, Brain atrophy	OMIM:214150
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv...	ORPHA:90791
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Failure to thrive, Fasting hyperinsuline...	ORPHA:71212
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff...	ORPHA:90796
Maternal Uniparental Disomy Of Chromosome 6	Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level, Inguinal he...	ORPHA:96181
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Cerebral atrophy, Gliosis, Neuronal loss in central nervous system, Basal gan...	OMIM:604377
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary	ORPHA:1875
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Thoracolaryngopelvic Dysplasia	Slender build, Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions	OMIM:187760
Proprotein Convertase 1/3 Deficiency	Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Hypoinsulinemia, Elevated ci...	OMIM:600955
Ovarian Fibrothecoma	Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O...	ORPHA:314478
Mohr-Tranebjaerg Syndrome	Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Abnorma...	ORPHA:52368
Lissencephaly Syndrome, Norman-Roberts Type	Low-set ears, Intrauterine growth retardation, Agenesis of corpus callosum, Abnormality of neuron...	ORPHA:89844
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	High-frequency sensorineural hearing impairment, Tremor, Sensorineural hearing impairment, Abnorm...	ORPHA:2590
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H...	OMIM:613327
Combined Oxidative Phosphorylation Deficiency 14	Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Diffuse cerebral atrophy, Gliosi...	OMIM:614946
Lissencephaly, X-Linked, 2	Pachygyria, Gliosis, Lissencephaly	OMIM:300215
Adducted Thumbs Syndrome	Myelin-dependent gliosis	OMIM:201550
Mandibuloacral Dysplasia With Type A Lipodystrophy	Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a...	OMIM:248370
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Combined Oxidative Phosphorylation Deficiency 24	Neurodegeneration, Cerebellar atrophy, Gliosis, Neuronal loss in central nervous system	OMIM:616239
Inherited Creutzfeldt-Jakob Disease	Astrocytosis	ORPHA:282166
Familial Hyperaldosteronism Type Iii	Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster...	ORPHA:251274
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology	OMIM:607641
Leber Congenital Amaurosis	Abnormality of neuronal migration, Encephalocele, Hearing impairment	ORPHA:65
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal rib morphology	ORPHA:1354
Craniodiaphyseal Dysplasia	Abnormal rib morphology	ORPHA:1513
Leptin Receptor Deficiency	Abnormal eating behavior, Emotional lability, Abnormal hypothalamus morphology, Aggressive behavi...	OMIM:614963
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Dysphagia, Amyotrophic lateral sclerosis, Disinhibition	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Dysphagia, Amyotrophic lateral sclerosis, Disinhibition	OMIM:616437
Primary Non-Essential Cutis Verticis Gyrata	Gliosis	ORPHA:357225
Glucocorticoid Resistance, Generalized	Increased circulating ACTH level, Increased serum testosterone level, Increased circulating corti...	OMIM:615962
Brain Small Vessel Disease 2	Subcortical heterotopia, Growth delay, Polymicrogyria	OMIM:614483
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Abnormal rib morphology	ORPHA:2790
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Gliosis	OMIM:612936
Amyotrophic Lateral Sclerosis 2, Juvenile	Arm dystonia, Amyotrophic lateral sclerosis, Generalized dystonia, Abnormal upper motor neuron mo...	OMIM:205100
Leukoencephalopathy With Vanishing White Matter 1	Gliosis	OMIM:603896
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Huntington Disease-Like 1	Cerebral cortical atrophy, Cerebellar atrophy, Gliosis	ORPHA:157941
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Gliosis, Neuronal loss in central nervous system	OMIM:614498
7Q31 Microdeletion Syndrome	Low-set ears, Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Enlarge...	ORPHA:251061
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Bor Syndrome	Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can...	ORPHA:107
Severe Early-Childhood-Onset Retinal Dystrophy	Reduced visual acuity, Retinal detachment, Retinal pigment epithelial atrophy, Optic disc pallor,...	ORPHA:364055
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration, Gliosis	OMIM:300957
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Short stature, Abnormality of neuronal migration	ORPHA:2204
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Neurogenic bladder, Orthostatic hypotension	OMIM:263570
Jeune Syndrome	Narrow chest, Abnormal clavicle morphology, Short thorax, Abnormal sternum morphology, Abnormal r...	ORPHA:474
Amyotrophic Lateral Sclerosis 21	Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Abnormal upper motor neuron m...	OMIM:606070
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Moderately reduced visual acuity, Severely reduced visual acuity, Chorioretinal coloboma, Retinal...	ORPHA:2921
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia	OMIM:201400
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Abnormal low...	OMIM:602433
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo...	ORPHA:95699
Branchiogenic Deafness Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove...	ORPHA:50815
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor...	ORPHA:3077
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased...	OMIM:202010
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Intrauterine growth retardation, Disproportionate short-limb s...	ORPHA:2772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Short stature, Abnormality of neuronal migration, Pachygyria	OMIM:608840
Mosaic Trisomy 14	Narrow chest, Failure to thrive, Abnormal rib morphology	ORPHA:1703
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis...	OMIM:201810
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol...	ORPHA:990
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Cranial nerve compression	ORPHA:52430
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Neurodegeneration, Cerebellar atrophy	ORPHA:438134
Apparent Mineralocorticoid Excess	Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir...	ORPHA:320
Optic Atrophy 11	Optic atrophy, Hearing impairment, Stereotypical body rocking, Facial diplegia, Attention deficit...	OMIM:617302
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia	OMIM:306000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu...	ORPHA:98754
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Alstrom Syndrome	Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Dec...	OMIM:203800
Desmosterolosis	Low-set ears, Severe short stature, Abnormal cortical gyration, Abnormal earlobe morphology, Poly...	ORPHA:35107
Retinitis Pigmentosa	Hypogonadism, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Abnormal testis morphology	ORPHA:791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Low-set ears, Subcortical heterotopia, Polymicrogyria, Type II lissencephaly, Encephalocele, Hydr...	OMIM:614643
Thanatophoric Dysplasia Type 2	Hearing impairment, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Short statur...	ORPHA:93274
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi...	OMIM:605814
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Lipoatrophy, Insulin resistance, Increased adipose tissue around the...	ORPHA:280365
Leigh Syndrome, Nuclear	Gliosis	OMIM:256000
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Obesity, Increased serum testosterone level...	ORPHA:247768
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia	ORPHA:2795
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Corpus callosum atrophy, Gliosis	OMIM:169500
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia	ORPHA:369929
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Agenesis of corpus callosum, Sensorineural hearing impairment, Colpocephaly, Hydrocephalus, Gray ...	OMIM:615219
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu...	ORPHA:98793
Apert Syndrome	Optic atrophy, Chiari malformation, Conductive hearing impairment, Sensorineural hearing impairme...	ORPHA:87
Rabson-Mendenhall Syndrome	Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me...	ORPHA:769
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Recurrent otitis media, Hyperactivity, Inflexible adherence to routines	OMIM:301076
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu...	ORPHA:177904
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina...	OMIM:616828
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu...	ORPHA:177901
Machado-Joseph Disease Type 3	Abnormal vestibular function, Cerebellar atrophy, Spinocerebellar tract degeneration, Dilated fou...	ORPHA:276244
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Gliosis	OMIM:608033
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Neurodegeneration, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy	OMIM:617672
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Optic atrophy, Motor stereotypy, Hyperactivity	ORPHA:530983
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Hearing impairment, Cochlear degeneration	ORPHA:95433
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum	OMIM:164180
Walker-Warburg Syndrome	Low-set ears, Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Protruding...	ORPHA:899
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Grant Syndrome	Abnormality of the glenoid fossa, Narrow chest, Sprengel anomaly, Abnormal rib morphology	ORPHA:2097
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Cerebellar atrophy, Generalized dystonia, Tremor, Abnormal lower motor neuron morp...	OMIM:614298
Neonatal Adrenoleukodystrophy	Low-set, posteriorly rotated ears, Abnormality of neuronal migration, Short stature, Sensorineura...	ORPHA:44
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Short stature, Periventricular heterotopia, Simplified gyral pattern	OMIM:618273
Leukoencephalopathy, Progressive, With Ovarian Failure	Neurodegeneration, Cerebellar atrophy	OMIM:615889
Hypophosphatasia	Failure to thrive in infancy, Narrow chest, Hypercalcemia, Abnormal rib morphology	ORPHA:436
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Pachygyria, Astrocytosis, Lissencephaly	ORPHA:258
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Posterior rib fusion, Abnormal rib morphology, Short thorax	ORPHA:1797
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ...	OMIM:207950
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia	OMIM:612526
Galloway-Mowat Syndrome	Hypoplasia of the ear cartilage, Pachygyria, Intrauterine growth retardation, Abnormality of neur...	ORPHA:2065
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera...	ORPHA:508
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Neurodegeneration, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem	OMIM:612319
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Cerebral cortical atrophy, Gliosis, Neuronal loss in central nervous system	OMIM:607485
Edinburgh Malformation Syndrome	Low-set ears, Abnormality of neuronal migration, Hydrocephalus	ORPHA:1895
Pontocerebellar Hypoplasia, Type 2A	Cerebral cortical atrophy, Gliosis	OMIM:277470
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Gliosis	ORPHA:457240
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hearing impairment, Short-segment aganglionic megacolon, Decreased nerve conduction velocity, Per...	OMIM:609136
Aromatase Deficiency	Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:613546
Thanatophoric Dysplasia	Low-set ears, Disproportionate short-limb short stature, Hearing impairment, Intrauterine growth ...	ORPHA:2655
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Diffuse cerebral atrophy, Gliosis, Atrophy/Degeneration affecting the brainst...	OMIM:617193
Infantile Neuroaxonal Dystrophy	Optic atrophy, Abnormality of peripheral nerve conduction, Peripheral axonal neuropathy, Hyperact...	ORPHA:35069
Prader-Willi Syndrome	Premature adrenarche, Small scrotum, Xerostomia, Central adrenal insufficiency, Cryptorchidism, H...	ORPHA:739
Joubert Syndrome 30	Gray matter heterotopia, Polymicrogyria, Agenesis of corpus callosum	OMIM:617622
Sprengel Deformity	Sprengel anomaly, Rib segmentation abnormalities	OMIM:184400
Microphthalmia, Isolated 8	Short palpebral fissure, Hypoplastic optic chiasm, Retinal coloboma, Entropion, Retinal detachmen...	OMIM:615113
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Absent internal auditory canal, Hypoplasia of the cochlea, Profound sensorineural hearing impairment	OMIM:620469
Satoyoshi Syndrome	Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog...	ORPHA:3130
Temple Syndrome	Obesity, Hypercholesterolemia, Truncal obesity, Hypertriglyceridemia, Overweight, Small for gesta...	OMIM:616222
Progressive Supranuclear Palsy	Cerebral cortical atrophy, Gliosis, Neuronal loss in central nervous system	ORPHA:683
Prader-Willi Syndrome	Precocious puberty, Class III obesity, Failure to thrive in infancy, Decreased response to growth...	OMIM:176270
Fibrochondrogenesis 2	Cupped ribs, Bell-shaped thorax, Thoracic hypoplasia, Short ribs	OMIM:614524
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology	OMIM:611067
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Diffuse cerebral atrophy, Gliosis	ORPHA:3240
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology	ORPHA:1506
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Obesity, Hypercholesterolemia	ORPHA:254531
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Narrow chest, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:93267
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Prominent floating ribs	OMIM:152800
Poland Syndrome	Rib fusion, Sprengel anomaly, Short ribs	OMIM:173800
Spondylocostal Dysostosis 5	Missing ribs, Pectus carinatum, Supernumerary ribs, Posterior rib fusion	OMIM:122600
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat...	OMIM:207750
Axial Spondylometaphyseal Dysplasia	Narrow chest, Thoracic hypoplasia, Flaring of lower rib cage, Short ribs, Deformed rib cage, Cupp...	ORPHA:168549
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Dysphagia	OMIM:607225
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Metatropic Dysplasia	Narrow chest, Long thorax, Abnormal rib morphology	ORPHA:2635
Neurodegeneration With Brain Iron Accumulation 6	Neurodegeneration	OMIM:615643
Machado-Joseph Disease	Cerebellar atrophy, Gliosis	OMIM:109150
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Neurodegeneration, Gliosis, Cerebral atrophy	OMIM:618321
Stankiewicz-Isidor Syndrome	Low-set ears, Abnormal optic disc morphology, Hyperactivity, Hearing impairment	OMIM:617516
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Gray matter heterotopia	OMIM:300049
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Gliosis, Cerebral atrophy	OMIM:619847
Achondrogenesis Type 1B	Narrow chest, Abnormal rib morphology, Short thorax	ORPHA:93298
Pelizaeus-Merzbacher Disease, Connatal Form	Pachygyria, Gliosis	ORPHA:280210
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Dysphagia, Amyotrophic lateral sclerosis	OMIM:613954
Cockayne Syndrome Type 3	Conductive hearing impairment, Astrocytosis, Mild postnatal growth retardation, Adult onset senso...	ORPHA:90324
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Abdominal obesity, Hypercholesterolemia, Truncal obesity...	OMIM:615812
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis	OMIM:606688
Osteogenesis Imperfecta, Type Ix	Multiple rib fractures, Pectus carinatum, Pectus excavatum	OMIM:259440
Tetrasomy 18P	Low-set, posteriorly rotated ears, Abnormality of neuronal migration	ORPHA:3307
Periventricular Nodular Heterotopia 7	Periventricular nodular heterotopia, Polymicrogyria, Gray matter heterotopia, Sensorineural heari...	OMIM:617201
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Protruding ear, Intrauterine growth retardation, Short stature, Abnormality of neuronal migration	ORPHA:2518
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Dysphagia, Cervical spinal co...	ORPHA:35689
Cat-Eye Syndrome	Abnormal rib morphology	ORPHA:195
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Renpenning Syndrome	Pectus excavatum, Cachexia, Sprengel anomaly, Abnormal rib morphology	ORPHA:3242
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion	OMIM:608681
Japanese Encephalitis	Abnormal midbrain morphology, Decreased motor nerve conduction velocity, Pill-rolling tremor, Abn...	ORPHA:79139
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Sprengel anomaly, Abnormal rib morphology	ORPHA:2345
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm...	ORPHA:247598
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Agenesis of corpus callosum, Hydr...	ORPHA:370959
9Q31.1Q31.3 Microdeletion Syndrome	Short clavicles, Overweight, Hypercholesterolemia	ORPHA:401923
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia, Macrotia	OMIM:619694
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Low-set ears, Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality...	ORPHA:2211
Atypical Werner Syndrome	Chondrocalcinosis, Failure to thrive, Insulin-resistant diabetes mellitus, Fasting hyperinsulinem...	ORPHA:79474
Becker Nevus Syndrome	Rib fusion, Pectus carinatum, Supernumerary ribs, Pectus excavatum	ORPHA:64755
16P13.11 Microdeletion Syndrome	Low-set ears, Atresia of the external auditory canal, Agenesis of corpus callosum, Sensorineural ...	ORPHA:261236
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Obesity, Eunuchoid habitus, Abnormal rib morphology	ORPHA:2234
Supranuclear Palsy, Progressive, 1	Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system, Senile plaques,...	OMIM:601104
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Elevated circulating propionylcarnitine concentration, Bell-shaped thorax, Hor...	OMIM:614857
Craniodiaphyseal Dysplasia, Autosomal Dominant	Thickened ribs	OMIM:122860
Congenital Muscular Dystrophy Without Intellectual Disability	Pachygyria, Gray matter heterotopia	ORPHA:370980
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm...	ORPHA:3464
Cushing Disease	Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor...	ORPHA:96253
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Small for gestat...	ORPHA:86816
Mannosidosis, Alpha B, Lysosomal	Cerebral cortical atrophy, Corpus callosum atrophy, Gliosis, Cerebellar atrophy	OMIM:248500
Schwannomatosis, Vestibular	Neurofibroma, Bilateral vestibular schwannoma, Hearing impairment, Peripheral schwannoma, Vertigo...	OMIM:101000
Developmental And Epileptic Encephalopathy 58	Optic atrophy	OMIM:617830
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Self-mutilation, Hyperactivity, Abnormal auto...	OMIM:256800
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Adrenal gland agenesis	OMIM:611812
Laron Syndrome	Hypercholesterolemia, Truncal obesity	ORPHA:633
Parkinson Disease 1, Autosomal Dominant	Global brain atrophy, Gliosis	OMIM:168601
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology	ORPHA:2643
Spondylocostal Dysostosis 3, Autosomal Recessive	Rib fusion	OMIM:609813
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Hearing impairment, Intrauterine growth retardation, Periventricular heterotopia, Colpocephaly, H...	OMIM:619833
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Gliosis	ORPHA:26791
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Intrauterine growth retardation, Periventricular heterotopia, Agenesis of corpus call...	ORPHA:255138
Morgagni-Stewart-Morel Syndrome	Obesity, Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Osteogenesis Imperfecta, Type Ii	Thin ribs, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures, Small for gestational...	OMIM:166210
Multiple Acyl-Coa Dehydrogenase Deficiency	Pachygyria, Gliosis	OMIM:231680
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Pectus excavatum, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:2522
Smith-Magenis Syndrome	Increased body weight, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Familial Acute Necrotizing Encephalopathy	Gliosis	ORPHA:88619
Ovarian Fibroma	Abnormality of the ovary, Ovarian fibroma, Gonadal calcification	ORPHA:314473
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Optic atrophy, Hearing impairment, Low-set, posteriorly rotat...	ORPHA:138
Gorham-Stout Disease	Abnormality of the internal auditory canal, Hearing impairment	ORPHA:73
Thanatophoric Dysplasia, Type I	Disproportionate short-limb short stature, Lethal short-limbed short stature, Neonatal death, Hyd...	OMIM:187600
Cog4-Cdg	Failure to thrive in infancy, Hypercholesterolemia	ORPHA:263501
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Bardet-Biedl Syndrome 1	Hypogonadism, Decreased testicular size, Abnormality of the ovary, Obesity, Hyperautofluorescent ...	OMIM:209900
White Forelock With Malformations	Sprengel anomaly, Abnormal rib morphology	ORPHA:2475
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology	ORPHA:2578
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr...	ORPHA:99889
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Narrow chest, Thoracic hypoplasia, Horizontal ribs, Short ribs, Lateral clavicle hook	OMIM:617895
Citrullinemia Type Ii	Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem...	ORPHA:247585
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Neurodegeneration	OMIM:620210
3C Syndrome	Low-set ears, Postnatal growth retardation, Abnormality of neuronal migration, Hydrocephalus, Sho...	ORPHA:7
Kleefstra Syndrome Due To A Point Mutation	Gliosis	ORPHA:261652
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Neonatal death	OMIM:253310
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Obesity, Hypercholesterolemia, Small for gestational age, Truncal obesity	ORPHA:96184
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Obesity, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Distal Renal Tubular Acidosis	Enlarged vestibular aqueduct, Sensorineural hearing impairment	ORPHA:18
Neurodegeneration With Brain Iron Accumulation 5	Neurodegeneration, Cerebellar atrophy, Cerebral atrophy	OMIM:300894
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Obesity, Sprengel anomaly, Abnormal rib morphology	ORPHA:2180
Achondrogenesis Type 1A	Multiple rib fractures, Narrow chest, Short thorax	ORPHA:93299
Atelis Syndrome 2	Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration	OMIM:620185
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormal rib morphology	ORPHA:93941
Joubert Syndrome	Low-set ears, Polymicrogyria, Encephalocele, Abnormality of neuronal migration, Hydrocephalus	ORPHA:475
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Li-Ghorbani-Weisz-Hubshman Syndrome	Low-set ears, Periventricular heterotopia	OMIM:618974
Joubert Syndrome 5	Retinal coloboma, Episodic tachypnea, Congenital blindness, Reduced visual acuity, Ptosis, Centra...	OMIM:610188
Fibrochondrogenesis	Narrow chest, Hypoplastic scapulae, Broad ribs, Bell-shaped thorax, Short ribs, Abnormal rib morp...	ORPHA:2021
Holt-Oram Syndrome	Abnormal clavicle morphology, Down-sloping shoulders, Sprengel anomaly, Abnormal rib morphology, ...	ORPHA:392
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Krabbe Disease	Neurodegeneration, Diffuse cerebral atrophy	OMIM:245200
Hsd10 Disease, Infantile Type	Neurodegeneration, Frontotemporal cerebral atrophy, Diffuse cerebral atrophy, Cerebral atrophy	ORPHA:391428
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Astrocytosis, Gliosis	OMIM:203700
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Neurodegeneration, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy	OMIM:615157
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Astrocytosis	ORPHA:309854
Legius Syndrome	Attention deficit hyperactivity disorder, Vestibular schwannoma, Hyperactivity, Hearing impairment	ORPHA:137605
Femoral-Facial Syndrome	Rib fusion, Sprengel anomaly, Abnormal rib morphology	ORPHA:1988
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Combined Oxidative Phosphorylation Deficiency 58	Cerebellar atrophy, Gliosis	OMIM:620451
Molybdenum Cofactor Deficiency, Type B	Diffuse cerebral atrophy, Gliosis, Cerebral atrophy	OMIM:252160
D-Bifunctional Protein Deficiency	Polymicrogyria, Corpus callosum atrophy, Gliosis, Cerebellar atrophy	OMIM:261515
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures, Thin clavicles	ORPHA:93324
Vici Syndrome	Short stature, Gray matter heterotopia, Agenesis of corpus callosum, Sensorineural hearing impair...	ORPHA:1493
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large for gestational age, Coat hanger sign of ribs, Small for gestational age, Thoracic hypoplasia	ORPHA:254534
Van Maldergem Syndrome 1	Conductive hearing impairment, Atresia of the external auditory canal, Periventricular nodular he...	OMIM:601390
Cardiospondylocarpofacial Syndrome	Low-set ears, Conductive hearing impairment, Fusion of middle ear ossicles, Recurrent otitis medi...	OMIM:157800
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs	ORPHA:2519
Congenital Disorder Of Deglycosylation 2	Hearing impairment, Polymicrogyria, Gray matter heterotopia, Cleft earlobe, Partial agenesis of t...	OMIM:619775
Septopreoptic Holoprosencephaly	Abnormal rib morphology	ORPHA:280195
Tay-Sachs Disease	Global brain atrophy, Cerebellar atrophy, Gliosis	ORPHA:845
Achondrogenesis, Type Ia	Broad clavicles, Hypoplastic scapulae, Narrow chest, Bell-shaped thorax, Barrel-shaped chest, Sho...	OMIM:200600
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa...	ORPHA:881
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Xanthe...	ORPHA:412
Fragile X Syndrome	Periventricular heterotopia, Macrotia	OMIM:300624
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormal rib morphology	OMIM:601076
Metatropic Dysplasia	Narrow chest, Short ribs, Cupped ribs, Flaring of rib cage, Clavicular pseudarthrosis	OMIM:156530
Neu-Laxova Syndrome	Lissencephaly, Abnormal cortical gyration, Polymicrogyria, Intrauterine growth retardation, Abnor...	ORPHA:2671
Cholesteryl Ester Storage Disease	Failure to thrive, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrati...	OMIM:278000
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Mismatch Repair Cancer Syndrome 1	Oligodendroglioma, Ependymoma, Agenesis of corpus callosum, Astrocytoma, Pleomorphic xanthoastroc...	OMIM:276300
Kenny-Caffey Syndrome, Type 1	Thin ribs, Hypomagnesemia, Hypocalcemia, Long clavicles, Thin clavicles	OMIM:244460
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pectus carinatum, Abnormal rib morphology	ORPHA:93351
Joubert Syndrome With Oculorenal Defect	Low-set, posteriorly rotated ears, Hydrocephalus, Abnormality of neuronal migration, Encephalocele	ORPHA:2318
Carnitine Palmitoyltransferase Ii Deficiency	Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Hydrocephalus, Pa...	ORPHA:157
Infantile-Onset X-Linked Spinal Muscular Atrophy	Cupped ribs, Mildly elevated creatine kinase, Short ribs	ORPHA:1145
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Neurodegeneration, Global brain atrophy, Axonal degeneration	ORPHA:478029
Xq21 Microdeletion Syndrome	Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis...	ORPHA:1435
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Abnormality of vision, Downslanted palpebral fissures, Tremor, Retinal degeneratio...	ORPHA:442835
Leigh Syndrome	Cerebellar atrophy, Gliosis	ORPHA:506
Craniosynostosis, Herrmann-Opitz Type	Abnormal rib morphology	ORPHA:2145
Lethal Congenital Contracture Syndrome 5	Thin ribs, Small for gestational age, Elevated circulating creatine kinase concentration	OMIM:615368
Holoprosencephaly 14	Low-set ears, Alobar holoprosencephaly, Periventricular heterotopia, Hydrocephalus, Gray matter h...	OMIM:619895
Galloway-Mowat Syndrome 7	Pectus excavatum, Hypercholesterolemia	OMIM:618348
Amyotrophic Lateral Sclerosis	Neurodegeneration, Motor neuron atrophy, Amyotrophic lateral sclerosis	ORPHA:803
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Missing ribs, Abnormal rib morphology	ORPHA:2759
Radio-Tartaglia Syndrome	Low-set ears, Conductive hearing impairment, Hearing impairment, Large earlobe, Agenesis of corpu...	OMIM:619312
Hyperlipoproteinemia, Type I	Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester...	OMIM:238600
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Postnatal growth retardation	ORPHA:531151
Smith-Magenis Syndrome	Failure to thrive in infancy, Obesity, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Liver Disease, Severe Congenital	Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, In...	OMIM:619991
Steinert Myotonic Dystrophy	Insulin resistance, Male hypogonadism, Cholelithiasis, Elevated circulating hepatic transaminase ...	ORPHA:273
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus, Hearing impairment, Lethal short-limbed short stature	ORPHA:1860
Neurocutaneous Melanocytosis	Abnormality of neuronal migration, Meningocele	ORPHA:2481
Molybdenum Cofactor Deficiency, Type A	Gliosis, Cerebral atrophy	OMIM:252150
Hereditary Late-Onset Parkinson Disease	Cerebral cortical atrophy, Gliosis	ORPHA:411602
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Low-set ears, Mixed hearing impairment, Overfolded helix, Thickened helices, Gray matter heterotopia	OMIM:608624
Supranuclear Palsy, Progressive, 2	Gliosis, Neuronal loss in central nervous system, Granulovacuolar degeneration	OMIM:609454
Diastrophic Dysplasia	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:628
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Alkuraya-Kucinskas Syndrome	Low-set ears, Hydrocephalus, Gray matter heterotopia, Posteriorly rotated ears, Lissencephaly	OMIM:617822
Prune Belly Syndrome	Pectus excavatum, Failure to thrive, Abnormal rib morphology	ORPHA:2970
Rett Syndrome	Increased serum leptin, Failure to thrive, Cholecystitis	ORPHA:778
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Pectus carinatum, Abnormal rib morphology	ORPHA:3082
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria	OMIM:617397
Autosomal Recessive Spondylocostal Dysostosis	Rib fusion, Rib segmentation abnormalities, Abnormal rib morphology, Short thorax	ORPHA:2311
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Three M Syndrome 2	Thin ribs, Pectus carinatum, Scapular winging, Short thorax, Small for gestational age	OMIM:612921
Cooper-Jabs Syndrome	Missing ribs, Abnormal rib morphology	ORPHA:1488
Spastic Paraplegia 79B, Autosomal Recessive	Neurodegeneration, Cerebellar atrophy, Cerebral atrophy	OMIM:615491
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat...	ORPHA:64753
Gm2 Gangliosidosis, Ab Variant	Neurodegeneration, Cerebral atrophy	ORPHA:309246
Fibrochondrogenesis 1	Thin ribs, Hypoplastic scapulae, Thoracic hypoplasia, Posterior rib cupping, Short ribs, Anterior...	OMIM:228520
Keppen-Lubinsky Syndrome	Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta...	OMIM:614098
Mesomelic Dysplasia, Kantaputra Type	Abnormal rib morphology	ORPHA:1836
Neurodegeneration With Brain Iron Accumulation 2B	Optic atrophy, Dysphagia, Hyperactivity, Impulsivity	OMIM:610217
Lethal Congenital Contracture Syndrome Type 1	Abnormal rib morphology	ORPHA:1486
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebral cortical atrophy, Cerebellar atrophy, Gliosis	OMIM:301072
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Low-set ears, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Ove...	OMIM:608836
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir...	OMIM:619662
Full Nf2-Related Schwannomatosis	Bilateral vestibular schwannoma, Peripheral schwannoma, Neuroma, Vestibular schwannoma, Sensorine...	ORPHA:637
Congenital Disorder Of Glycosylation, Type Iiaa	Narrow chest, Hypercholesterolemia, Hyperammonemia	OMIM:620454
Spondylocostal Dysostosis 4, Autosomal Recessive	Bell-shaped thorax, Missing ribs, Rib fusion, Short thorax, Pectus excavatum	OMIM:613686
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Corpus callosum atrophy, Gliosis, Polymicrogyria	OMIM:620371
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Hydrocephalus, Pa...	ORPHA:228308
Osteogenesis Imperfecta, Type Xv	Thin ribs	OMIM:615220
Man1B1-Cdg	Low-set ears, Periventricular heterotopia, Macrotia	ORPHA:397941
Van Maldergem Syndrome 2	Conductive hearing impairment, Atresia of the external auditory canal, Hearing impairment, Stenos...	OMIM:615546
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Low-set ears, Periventricular heterotopia, Agenesis of corpus callosum, Thickened helices, Poster...	OMIM:618929
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration, Posteriorly rotated ears	ORPHA:2063
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Cerebral cortical atrophy, Patent ductus arteriosus, Gliosis, Neuronal loss in central nervous sy...	OMIM:300868
Cerebrofacioarticular Syndrome	Conductive hearing impairment, Agenesis of corpus callosum, Dysplastic corpus callosum, Short sta...	ORPHA:314679
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Hearing impairment, Gray matter heterotopia, Overfolded helix, Posteriorly rotated ears, Microtia	OMIM:620475
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Hearing impairment, Pachygyria, Neonatal death, Short stature, Gray matter heterotopia, Frontal p...	OMIM:620024
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Small for gestational age, Short ribs, Thoracic hypoplasia	OMIM:616897
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Thin ear helix, Low-set, posteriorly rotated ears, Polymicrogyria, Intraute...	ORPHA:468631
Papillorenal Syndrome	Gliosis	OMIM:120330
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia, Lateral ventricle dilatation	OMIM:614105
Cerebrotendinous Xanthomatosis	Global brain atrophy, Cerebellar atrophy, Gliosis, Axonal degeneration	ORPHA:909
Bohring-Opitz Syndrome	Low-set ears, Intrauterine growth retardation, Gray matter heterotopia, Mesomelic/rhizomelic limb...	OMIM:605039
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Decreased body weight	OMIM:618265
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration, Abnormal neuron morphology	ORPHA:163681
Melnick-Needles Syndrome	Short clavicles, Narrow chest, Abnormal rib morphology, Short thorax	ORPHA:2484
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria, Neonatal death	OMIM:614887
Klippel-Feil Syndrome 1, Autosomal Dominant	Sprengel anomaly, Abnormal rib morphology	OMIM:118100
Trisomy 13	Narrow chest, Abnormal rib morphology	ORPHA:3378
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, 11 pairs of ribs	OMIM:300863
Miller-Dieker Lissencephaly Syndrome	Low-set ears, Pachygyria, Intrauterine growth retardation, Gray matter heterotopia, Agyria, Poste...	OMIM:247200
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Broad ribs, Flaring of rib cage, Elevated circulating C-reactive pr...	OMIM:612852
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Gliosis, Cerebral atrophy	ORPHA:404454
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Decreased body weight	OMIM:614833
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Pectus carinatum, Abnormal rib morphology	ORPHA:3068
Spondylocostal Dysostosis 1, Autosomal Recessive	Rib fusion	OMIM:277300
Autosomal Dominant Centronuclear Myopathy	Thin ribs, Large for gestational age, Mildly elevated creatine kinase	ORPHA:169189
Coffin-Lowry Syndrome	Protruding ear, Abnormality of neuronal migration, Short stature, Sensorineural hearing impairment	ORPHA:192
3M Syndrome	Thin ribs, Horizontal ribs, Scapular winging, Short thorax, Enlarged thorax	ORPHA:2616
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology, Resting tremor	OMIM:601162
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Thoracolumbar kyphosis, Narrow chest, Thoracic hypoplasia, Short ribs	OMIM:151210
Mitochondrial Complex I Deficiency, Nuclear Type 2	Gliosis	OMIM:618222
Joubert Syndrome With Hepatic Defect	Low-set ears, Abnormality of neuronal migration, Occipital encephalocele, Hydrocephalus	ORPHA:1454
Sitosterolemia 1	Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste...	OMIM:210250
Tetraamelia Syndrome 1	Asplenia, Congenital diaphragmatic hernia, Adrenal gland agenesis	OMIM:273395
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus	OMIM:219730
Galloway-Mowat Syndrome 1	Low-set ears, Pachygyria, Intrauterine growth retardation, Abnormality of neuronal migration, Sho...	OMIM:251300
Low Phospholipid-Associated Cholelithiasis	Obesity, Overweight, Hypercholesterolemia	ORPHA:69663
Juberg-Hayward Syndrome	Abnormal rib morphology	ORPHA:2319
Gracile Bone Dysplasia	Thin ribs, Failure to thrive, Hypocalcemia	OMIM:602361
Nestor-Guillermo Progeria Syndrome	Flexion contracture, Lipoatrophy, Failure to thrive, Decreased serum leptin	OMIM:614008
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Elevated circulating creatine kinase concentration, Increased body weight, Hyp...	ORPHA:264580
Cockayne Syndrome	Neurogenic bladder, Cerebellar atrophy, Gliosis, Cerebral atrophy	ORPHA:191
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Increased body weight, Elevated circulating creatine kinase concentration, Hypercholesterolemia, ...	ORPHA:79240
Opitz-Kaveggia Syndrome	Microtia, first degree, Sensorineural hearing impairment, Simple ear, Hydrocephalus, Short statur...	OMIM:305450
Genitourinary And/Or Brain Malformation Syndrome	Low-set ears, Abnormality of the outer ear, Polymicrogyria, Agenesis of corpus callosum, Protrudi...	OMIM:618820
Osteogenesis Imperfecta, Type X	Thin ribs, Narrow chest, Thoracic hypoplasia, Broad ribs, Thoracic scoliosis, Multiple rib fractures	OMIM:613848
Achondrogenesis, Type Ii	Horizontal ribs, Barrel-shaped chest, Short ribs	OMIM:200610
Aicardi Syndrome	Lateral ventricle dilatation, Polymicrogyria, Postnatal growth retardation, Spina bifida, Pachygy...	OMIM:304050
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Neurodegeneration, Periventricular heterotopia	OMIM:618476
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Agenesis of corpus callosum, Simple ear, Sensorineural hearing impai...	OMIM:618733
Oculocerebrocutaneous Syndrome	Missing ribs, Abnormal rib morphology	ORPHA:1647
Adrenoleukodystrophy	Neurodegeneration	OMIM:300100
Cerebral Visual Impairment	Neurodegeneration, Central nervous system degeneration	ORPHA:447788
Gm2-Gangliosidosis, Ab Variant	Neurodegeneration, Cerebral atrophy	OMIM:272750
Orofaciodigital Syndrome Xvi	Low-set ears, Gray matter heterotopia	OMIM:617563
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Low-set ears, Gray matter heterotopia	OMIM:618797
6Q Terminal Deletion Syndrome	Polymicrogyria, Low-set, posteriorly rotated ears, Periventricular heterotopia, Abnormality of ne...	ORPHA:75857
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Flat glenoid fossa, Obesity, Short ribs, Cupped ribs, Irregular chondrocostal junctions	OMIM:250420
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Low-set ears, Abnormal cortical gyration, Disproportionate short stature, Lateral ventricle dilat...	OMIM:210710
Alström Syndrome	Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly...	ORPHA:64
Orofaciodigital Syndrome Type 6	Conductive hearing impairment, Low-set, posteriorly rotated ears, Abnormality of neuronal migrati...	ORPHA:2754
Alg11-Cdg	Gray matter heterotopia, Hearing impairment	ORPHA:280071
Noonan Syndrome	Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Thickened helices, Sensorin...	ORPHA:648
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs	ORPHA:456328
Axial Mesodermal Dysplasia Spectrum	Missing ribs, Abnormal rib morphology	ORPHA:1834
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Prominent sternum, Anterior rib cupping, Thoracic kyphosis	OMIM:300232
16Q24.3 Microdeletion Syndrome	Hearing impairment, Periventricular heterotopia, Protruding ear, Colpocephaly, Chronic otitis media	ORPHA:261250
Mucopolysaccharidosis Type 4	Pectus carinatum, Abnormal rib morphology, Short thorax	ORPHA:582
Orofaciodigital Syndrome I	Low-set ears, Abnormal cortical gyration, Hearing impairment, Myelomeningocele, Agenesis of corpu...	OMIM:311200
Trisomy 1Q	Abnormal rib morphology, Short thorax	ORPHA:261344
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Short stature, Periventricular heterotopia	OMIM:618870
Cleidocranial Dysplasia	Narrow chest, Hypoplastic scapulae, Down-sloping shoulders, Short clavicles, Abnormal rib morphology	ORPHA:1452
Osteogenesis Imperfecta, Type Xvi	Multiple rib fractures, Narrow chest, Small for gestational age	OMIM:616229
Koolen-De Vries Syndrome	Intrauterine growth retardation, Short stature, Overfolded helix, Anteverted ears, Gray matter he...	OMIM:610443
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Neurodegeneration, Patent ductus arteriosus, Gliosis	OMIM:620455
Antley-Bixler Syndrome	Narrow chest, Abnormal rib morphology	ORPHA:83
Hydrolethalus Syndrome 1	Low-set ears, Abnormal cortical gyration, Intrauterine growth retardation, Agenesis of corpus cal...	OMIM:236680
Congenital Disorder Of Deglycosylation 1	Gliosis	OMIM:615273
Greenberg Dysplasia	Fractured rib, Narrow chest, Thoracic hypoplasia, Abnormal scapula morphology, 11 pairs of ribs, ...	OMIM:215140
Multiple Pterygium-Malignant Hyperthermia Syndrome	Pectus excavatum, Abnormal circulating creatine kinase concentration, Abnormal rib morphology	ORPHA:2215
Acro-Renal-Mandibular Syndrome	Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Sprengel anomaly	ORPHA:958
Aspergillosis	Abnormal rib morphology	ORPHA:1163
Dyggve-Melchior-Clausen Disease	Pectus carinatum, Failure to thrive, Broad ribs, Glenoid fossa hypoplasia, Horizontal inferior bo...	ORPHA:239
Lysinuric Protein Intolerance	Failure to thrive, Increased circulating ferritin concentration, Decreased HDL cholesterol concen...	ORPHA:470
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Low-set ears, Recurrent otitis media, Underdeveloped tragus, Gray matter heterotopia, Short statu...	OMIM:620654
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Gliosis, Cerebral atrophy	OMIM:124000
Cerebrofaciothoracic Dysplasia	Rib fusion, Narrow chest, Sprengel anomaly, Bifid ribs	ORPHA:1394
Helsmoortel-Van Der Aa Syndrome	Gliosis	OMIM:615873
Peroxisome Biogenesis Disorder 1A (Zellweger)	Low-set ears, Abnormal helix morphology, Hearing impairment, Polymicrogyria, Sensorineural hearin...	OMIM:214100
Garg-Mishra Progeroid Syndrome	Thin ribs, Narrow chest	OMIM:620601
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Cupped ribs	OMIM:609616
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Cerebral cortical atrophy, Gliosis	ORPHA:268261
Mucopolysaccharidosis, Type X	Broad clavicles, Broad ribs, Spatulate ribs	OMIM:619698
Dysosteosclerosis	Narrow chest, Broad ribs, Sclerotic scapulae, Short ribs, Short sternum, Clavicular sclerosis	OMIM:224300
Kagami-Ogata Syndrome	Thin ribs, Long clavicles, Bell-shaped thorax	OMIM:608149
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Congenital Disorder Of Glycosylation, Type Iig	Failure to thrive in infancy, Rib fusion, Posterior rib gap, Thoracic scoliosis	OMIM:611209
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Thin ribs, Obesity	OMIM:618395
Gaisböck Syndrome	Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Overweight,...	ORPHA:90041
Neurodegeneration With Brain Iron Accumulation 3	Neurodegeneration	OMIM:606159
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal rib morphology	ORPHA:3035
Severe Congenital Nemaline Myopathy	Thin ribs, Abnormal thorax morphology	ORPHA:171430
Cartilage-Hair Hypoplasia	Pectus carinatum, Narrow chest, Failure to thrive, Abnormal rib morphology, Flaring of lower rib ...	ORPHA:175
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis	ORPHA:722
Campomelia, Cumming Type	Abnormal thorax morphology, Abnormal rib morphology	ORPHA:1318
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal rib morphology	ORPHA:1120
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of the outer ear, Atresia of the external auditory canal, Hearing impairment, Abnorma...	ORPHA:3186
Hyperparathyroidism, Transient Neonatal	Thin ribs, Narrow chest, Fractured rib, Undulate ribs, Short ribs	OMIM:618188
Phaver Syndrome	Abnormal rib morphology	ORPHA:2876
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Holoprosencephaly	Spinal dysraphism, Encephalocele, Abnormal antihelix morphology, Abnormality of neuronal migratio...	ORPHA:2162
Pmm2-Cdg	Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, El...	ORPHA:79318
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem...	ORPHA:90674
Periventricular Nodular Heterotopia 9	Polymicrogyria, Squared superior portion of helix, Periventricular nodular heterotopia, Gray matt...	OMIM:618918
Lysosomal Acid Lipase Deficiency	Failure to thrive, Xanthelasma, Hyponatremia, Cachexia, Weight loss, Hypercholesterolemia, Hypert...	ORPHA:275761
Bilateral Perisylvian Polymicrogyria	Bilateral perisylvian polymicrogyria, Hearing impairment, Perisylvian predominant thick cortex pa...	ORPHA:98889
Ataxia-Telangiectasia-Like Disorder 2	Neurodegeneration, Cerebellar atrophy	OMIM:615919
Tetraamelia-Multiple Malformations Syndrome	Missing ribs, Abnormal rib morphology	ORPHA:3301
Familial Osteodysplasia, Anderson Type	Missing ribs, Aplastic clavicle, Hyperuricemia, Abnormal rib morphology	ORPHA:2769
Gorlin Syndrome	Rib fusion, Bifid ribs, Anterior rib cupping, Abnormal rib morphology	ORPHA:377
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Horizontal ribs, Short ribs, Conjugated hyperbilirubinemia, Lat...	OMIM:208500
Cole-Carpenter Syndrome 2	Thin ribs, Pectus excavatum	OMIM:616294
Cenani-Lenz Syndrome	Abnormal rib morphology	ORPHA:3258
Xylt1-Cdg	Short clavicles, Broad ribs, Truncal obesity	ORPHA:370930
Charge Syndrome	Low-set ears, Cupped ear, Aplasia of the semicircular canal, Self-mutilation, Sensorineural heari...	OMIM:214800
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration	ORPHA:79244
Meier-Gorlin Syndrome 1	Thin ribs, Pectus carinatum, Abnormal rib cage morphology, Flat glenoid fossa, Failure to thrive,...	OMIM:224690
Mucopolysaccharidosis, Type Iiib	Thickened ribs	OMIM:252920
Mucopolysaccharidosis, Type Ii	Neurodegeneration	OMIM:309900
Ellis-Van Creveld Syndrome	Pectus carinatum, Narrow chest, Horizontal ribs, Short ribs	OMIM:225500
Vici Syndrome	Low-set ears, Postnatal growth retardation, Agenesis of corpus callosum, Sensorineural hearing im...	OMIM:242840
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Narrow chest, Abnormal thorax morphology	ORPHA:73230
Nijmegen Breakage Syndrome	Glioma, Hearing abnormality, Abnormality of neuronal migration, Short stature, Macrotia	ORPHA:647
Alagille Syndrome	Failure to thrive, Abnormal rib morphology	ORPHA:52
Mucopolysaccharidosis, Type Iiia	Thickened ribs	OMIM:252900
Pagod Syndrome	Encephalocele, Abnormality of neuronal migration, Spina bifida, Short stature, Meningocele	ORPHA:991
Mucolipidosis Iii Alpha/Beta	Increased serum beta-hexosaminidase, Broad ribs, Short ribs	OMIM:252600
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Neurodegeneration, Cerebral atrophy	OMIM:616878
Mucopolysaccharidosis, Type Iva	Pectus carinatum, Prominent sternum, Flaring of rib cage	OMIM:253000
Holzgreve Syndrome	Abnormal rib morphology	ORPHA:2167
Myotubular Myopathy With Abnormal Genital Development	Thin ribs	OMIM:300219
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Pectus excavatum, Prominent sternum, Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254528
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Protruding ear, Intrauterine growth retardation, Birth length less than 3rd percentile, Abnormali...	ORPHA:464311
Multiple Pterygium Syndrome, X-Linked	Thin ribs	OMIM:312150
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Rib fusion, Missing ribs, Short ribs	OMIM:271520
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs	ORPHA:163966
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Shoulder flexion contracture, Thoracic hypoplasia, Thoracic scoliosis, Scapular wingin...	OMIM:620369
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste...	ORPHA:186
Proximal 16P11.2 Microdeletion Syndrome	Rib fusion, Obesity, Failure to thrive	ORPHA:261197
Mucopolysaccharidosis Type 6	Broad ribs, Failure to thrive	ORPHA:583
Basal Cell Nevus Syndrome 1	Abnormal sternum morphology, Down-sloping shoulders, Supernumerary ribs, Short ribs, Sprengel ano...	OMIM:109400
Cole-Carpenter Syndrome	Abnormal rib morphology	ORPHA:2050
Autosomal Dominant Popliteal Pterygium Syndrome	Nonketotic hyperglycinemia, Abnormal rib morphology	ORPHA:1300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Type II lissencephaly, Agenesis of corpus callosum, Hydrocephalus, Gray ...	OMIM:615287
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pectus carinatum, Narrow chest, Thoracic dysplasia, Horizontal ribs, Short ribs, Lateral clavicle...	OMIM:263520
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Intrauterine growth retardation, Abnormal helix morphology, Hearing impa...	ORPHA:453499
Osteogenesis Imperfecta, Type Iii	Thin ribs	OMIM:259420
Cutis Laxa, Autosomal Recessive, Type Iid	Gliosis	OMIM:617403
Poland Syndrome	Asymmetry of the thorax, Pectus carinatum, Abnormal sternum morphology, Aplasia/Hypoplasia of the...	ORPHA:2911
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Increased circulating cortisol level, Hypophosphatemia, Abnormal ri...	ORPHA:249
Schwartz-Jampel Syndrome	Pectus carinatum, Shoulder flexion contracture, Elevated circulating creatine kinase concentratio...	ORPHA:800
Pontine Tegmental Cap Dysplasia	Rib fusion, Failure to thrive	OMIM:614688
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Pectus carinatum, Supernumerary ribs, Pectus excavatum, Lateral clavicle hook	OMIM:182212
Lethal Congenital Contracture Syndrome 10	Broad ribs, Narrow chest, Thoracic scoliosis	OMIM:617022
Norrie Disease	Self-injurious behavior, Optic atrophy, Abnormal helix morphology, Sensorineural hearing impairme...	ORPHA:649
Mucopolysaccharidosis, Type Iiic	Thickened ribs	OMIM:252930
Mucopolysaccharidosis, Type Vii	Neurodegeneration	OMIM:253220
Bardet-Biedl Syndrome 20	Obesity, Hypercholesterolemia	OMIM:619471
Hurler Syndrome	Neurodegeneration	OMIM:607014
Diets-Jongmans Syndrome	Gliosis	OMIM:618846
Short-Rib Thoracic Dysplasia 12	Narrow chest, Hypoplastic scapulae, Thoracic dysplasia, Horizontal ribs, Short ribs, Short thorax	OMIM:269860
Occipital Horn Syndrome	Broad clavicles, Pectus carinatum, Narrow chest, Broad ribs, Short clavicles, Pectus excavatum, D...	OMIM:304150
Osteogenesis Imperfecta, Type Xviii	Thin ribs	OMIM:617952
Autosomal Recessive Multiple Pterygium Syndrome	Rib fusion, Pectus excavatum, Failure to thrive, Abnormal sternum morphology	ORPHA:2990
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Thoracic hypoplasia, Short ribs, Horizontal ribs	OMIM:613091
Multiple Pterygium Syndrome, Lethal Type	Thin ribs	OMIM:253290
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Failure to thrive, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyc...	ORPHA:79259
Mosaic Trisomy 8	Narrow chest, Abnormal rib morphology	ORPHA:96061
Kyphomelic Dysplasia	Undulate ribs, Thoracic hypoplasia, Anterior rib cupping, Lateral clavicle hook	OMIM:211350
Cerebrocostomandibular Syndrome	Posterior rib gap, Thoracic hypoplasia, Rib gap, Anomalous rib insertion to vertebrae, Bell-shape...	OMIM:117650
Immunodeficiency 47	Decreased circulating copper concentration, Hypercholesterolemia, Failure to thrive	OMIM:300972
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Thin ribs, Pectus excavatum, Eunuchoid habitus	ORPHA:2463
Acromelic Frontonasal Dysostosis	Low-set ears, Periventricular nodular heterotopia, Encephalocele, Agenesis of corpus callosum, Gr...	OMIM:603671
Van Den Ende-Gupta Syndrome	Thin ribs, Hypoplastic scapulae, Glenoid fossa hypoplasia, Short ribs, Short clavicles, Pectus ex...	OMIM:600920
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Gliosis, Simplified gyral pattern	OMIM:220111
Sclerosteosis 1	Broad clavicles, Broad ribs, Sclerotic scapulae	OMIM:269500
Oculocerebrorenal Syndrome Of Lowe	Failure to thrive, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholeste...	ORPHA:534
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow chest, Abnormal scapula morphology, Abnormal rib morphology	ORPHA:93317
Alagille Syndrome 1	Hypercholesterolemia, Failure to thrive, Abnormal rib morphology, Hypertriglyceridemia	OMIM:118450
Gabriele-De Vries Syndrome	Gliosis	ORPHA:506358
Mucopolysaccharidosis, Type Ivb	Prominent sternum, Flaring of rib cage	OMIM:253010
Vacterl/Vater Association	Abnormal rib morphology	ORPHA:887
Kagami-Ogata Syndrome	Large for gestational age, Bell-shaped thorax, Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254519
Monosomy 9Q22.3	Pectus excavatum, Large for gestational age, Abnormal rib morphology	ORPHA:77301
Otopalatodigital Syndrome Type 2	Narrow chest, Failure to thrive, Abnormal rib morphology	ORPHA:90652
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Conductive hearing impairment, Agenesis of corpus callosum, Protruding ear, Sensorineural hearing...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Conductive hearing impairment, Agenesis of corpus callosum, Protruding ear, Sensorineural hearing...	ORPHA:352665
Hallermann-Streiff Syndrome	Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Pectus...	OMIM:234100
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Narrow chest, Large for gestational age, Rib fusion, Sprengel anomaly, Bifid ribs, Pectus excavatum	OMIM:213980
Fontaine Progeroid Syndrome	Low-set ears, Conductive hearing impairment, Intrauterine growth retardation, Gray matter heterot...	OMIM:612289
Hurler Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:93473
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow chest, Bell-shaped thorax, Horizontal ribs, Short ribs	OMIM:616300
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Abnormal rib morphology, Fatigable weakness of swallowing muscles	ORPHA:581
African Trypanosomiasis	Abnormality of circulating cortisol level, Abnormality of renin-angiotensin system, Abnormal grow...	ORPHA:3385
Chediak-Higashi Syndrome	Neurodegeneration	OMIM:214500
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Large earlobe, Aganglionic...	ORPHA:798
Eiken Syndrome	Broad ribs, Decreased body weight	OMIM:600002
Doors Syndrome	Congenital hypothyroidism, Adrenal hyperplasia	ORPHA:79500
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Rib fusion, Large for gestational age	ORPHA:544488
Pyknoachondrogenesis	Enlarged thorax, Horizontal ribs, Short ribs, Short thorax	ORPHA:3003
Nijmegen Breakage Syndrome	Neurodegeneration, Glioma	OMIM:251260
Orofaciodigital Syndrome Xiv	Low-set ears, Occipital encephalocele, Polymicrogyria, Periventricular heterotopia, Partial agene...	OMIM:615948
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Broad ribs	ORPHA:85184
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Acrocapitofemoral Dysplasia	Pectus carinatum, Narrow chest, Short ribs, Cupped ribs, Pectus excavatum	OMIM:607778
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow chest, Horizontal ribs, Long thorax, Short ribs, Lateral clavicle hook	OMIM:617925
Premature Aging Syndrome, Penttinen Type	Thin ribs, Failure to thrive, Cervical ribs	OMIM:601812
Cantú Syndrome	Broad ribs, Narrow chest	ORPHA:1517
Trisomy 18	Cachexia, Abnormal rib morphology	ORPHA:3380
Dextrocardia	Abnormal rib morphology	ORPHA:1666
Smith-Lemli-Opitz Syndrome	Low-set ears, Growth delay, Hearing impairment, Recurrent otitis media, Intrauterine growth retar...	OMIM:270400
Multiple System Atrophy 1, Susceptibility To	Neurodegeneration	OMIM:146500
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Narrow chest, Abnormality of the costochondral junction, Thoracic hypoplasi...	ORPHA:96334
Arima Syndrome	Gray matter heterotopia, Growth delay, Occipital meningocele	OMIM:243910
Gm1-Gangliosidosis, Type I	Thickened ribs	OMIM:230500
Craniometadiaphyseal Dysplasia	Broad ribs	OMIM:269300
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cupped ribs, Hypotriglyceridemia	ORPHA:85167
Aicardi Syndrome	Missing ribs, Supernumerary ribs, Rib fusion, Bifid ribs	ORPHA:50
Osteogenesis Imperfecta	Thin ribs, Pectus carinatum, Narrow chest, Thoracic hypoplasia, Multiple rib fractures, Abnormal ...	ORPHA:666
Radio-Renal Syndrome	Abnormal rib morphology	ORPHA:3015
Osteopathia Striata With Cranial Sclerosis	Thoracolumbar kyphosis, Failure to thrive, Broad ribs, Straight clavicles, Pectus excavatum	OMIM:300373
Bent Bone Dysplasia Syndrome 2	Thin ribs, Short sternum, Short ribs	OMIM:620076
Frontometaphyseal Dysplasia 1	Coat hanger sign of ribs, Scapular winging	OMIM:305620
X-Linked Hypophosphatemia	Multiple rib fractures, Enlargement of the costochondral junction, Hypophosphatemia, Rachitic rosary	ORPHA:89936
Acrorenal-Mandibular Syndrome	Thin ribs, Narrow chest, Hypoplastic scapulae, Missing ribs	OMIM:200980
Leukocyte Adhesion Deficiency	Peritonitis, Hyperinsulinemic hypoglycemia	ORPHA:2968
Mucopolysaccharidosis, Type Iiid	Thickened ribs, Thoracic scoliosis	OMIM:252940
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Abnormal rib cage morphology, 11 pairs of ribs, Decreased body weight, Cupped ribs, Flaring of ri...	OMIM:271640
Ear-Patella-Short Stature Syndrome	Aplastic clavicle, Failure to thrive, Abnormal rib morphology	ORPHA:2554
Kbg Syndrome	Rib fusion, Cervical ribs, Thoracic kyphosis	OMIM:148050
Campomelic Dysplasia	Thin ribs, Pectus carinatum, Hypoplastic scapulae, Failure to thrive, Thoracic hypoplasia, 11 pai...	OMIM:114290
Osteogenesis Imperfecta, Type Viii	Thin ribs, Barrel-shaped chest	OMIM:610915
Brachytelephalangic Chondrodysplasia Punctata	Abnormality of the costochondral junction	ORPHA:79345
Costello Syndrome	Low-set ears, Posteriorly rotated ears, Vestibular schwannoma	OMIM:218040
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow chest, 11 pairs of ribs, Short ribs, Cupped ribs, Horizontal inferior border of scapula	OMIM:250220
Microphthalmia, Syndromic 3	Missing ribs, Supernumerary ribs, Rib fusion	OMIM:206900
Multiple Pterygium Syndrome, Escobar Variant	Rib fusion, Long clavicles, Down-sloping shoulders	OMIM:265000
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Motor stereotypy	OMIM:613886
Hutchinson-Gilford Progeria Syndrome	Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Severe failure to thrive, Weig...	ORPHA:740
Schinzel-Giedion Midface Retraction Syndrome	Failure to thrive, Broad ribs, Hypoplasia of first ribs, Short sternum, Long clavicles	OMIM:269150
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Hypophosphatemia, Hypocalcemia, Abnormal rib morphology	ORPHA:667
Mucopolysaccharidosis, Type Vi	Pectus carinatum, Prominent sternum, Broad ribs	OMIM:253200
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Supernumerary ribs, Hypertriglyceridemia, Elevated hemoglobin A1c, Pectus excavatum	OMIM:619127
Hereditary Acrokeratotic Poikiloderma	Abnormal rib morphology	ORPHA:2907
Smith-Lemli-Opitz Syndrome	Elevated circulating 7-dehydrocholesterol concentration, Abnormal rib morphology	ORPHA:818
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Neurodegeneration	OMIM:619475
Cranioectodermal Dysplasia 2	Narrow chest, Hyperbilirubinemia, Horizontal ribs, Short ribs, Pectus excavatum	OMIM:613610
Alpha-Mannosidosis, Infantile Form	Pectus carinatum, Thickened ribs, Pectus excavatum	ORPHA:309282
Stuve-Wiedemann Syndrome 1	Thin ribs	OMIM:601559
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Small for gestational age, Failure to thrive, Hypertriglyceridemia	OMIM:606721
Myhre Syndrome	Abnormal rib morphology	ORPHA:2588
Neurodegeneration With Brain Iron Accumulation 1	Neurodegeneration, Global brain atrophy, Cerebral degeneration	OMIM:234200
Pallister-Hall Syndrome	Rib fusion, Decreased circulating cortisol level	OMIM:146510
Lenz-Majewski Hyperostotic Dwarfism	Broad clavicles, Failure to thrive, Broad ribs	OMIM:151050
Lowe Oculocerebrorenal Syndrome	Elevated amniotic fluid alpha-fetoprotein, Failure to thrive, Elevated circulating creatine kinas...	OMIM:309000
Wolf-Hirschhorn Syndrome	Rib fusion, Abnormal thorax morphology, Failure to thrive, Rib segmentation abnormalities	ORPHA:280
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Broad ribs, Obesity	OMIM:301066
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Thoracolumbar kyphosis, Thoracic hypoplasia, Horizontal ribs	OMIM:618019
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Hypocalcemia, Elevated circulating creatine kinase concentration, Prominent fl...	ORPHA:2785
Autosomal Recessive Robinow Syndrome	Rib fusion, Pectus carinatum, Pectus excavatum	ORPHA:1507
Fryns Syndrome	Thin ribs, Broad ribs, Large for gestational age, Thoracic hypoplasia	OMIM:229850
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Hypocalcemic seizures	OMIM:612301
Weill-Marchesani Syndrome 1	Broad ribs	OMIM:277600
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cupped ribs	OMIM:608940
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short clavicles, Narrow chest, Horizontal ribs, Short ribs	OMIM:617088
Simpson-Golabi-Behmel Syndrome	Pectus excavatum, Abnormal rib morphology	ORPHA:373
Monosomy 9P	Abnormal rib morphology	ORPHA:261112
Robinow Syndrome, Autosomal Recessive 1	Rib fusion, Pectus excavatum, Missing ribs	OMIM:268310
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Short clavicles, Pectus excavatum, Undulate ribs	OMIM:609945
Camptodactyly Syndrome, Guadalajara Type 3	Abnormal rib morphology	ORPHA:488434
Robinow Syndrome	Missing ribs, Rib fusion, Small for gestational age	ORPHA:97360
Zttk Syndrome	Rib fusion, Failure to thrive, Cervical ribs	OMIM:617140
Myhre Syndrome	Broad ribs, Obesity, Small for gestational age	OMIM:139210
Ulbright-Hodes Syndrome	Thin ribs, Short sternum, Abnormal rib morphology, Short ribs	ORPHA:3404
Weill-Marchesani Syndrome 2	Broad ribs	OMIM:608328
Kindler Epidermolysis Bullosa	Abnormal rib morphology	ORPHA:2908
1P36 Deletion Syndrome	Failure to thrive, Obesity, 11 pairs of ribs, Rib fusion, Bifid ribs	ORPHA:1606
Vater/Vacterl Association	Failure to thrive, Abnormal sternum morphology, Abnormal rib morphology	OMIM:192350
Restrictive Dermopathy	Thin ribs, Increased anterioposterior diameter of thorax, Aplasia/Hypoplasia of the clavicles, Th...	ORPHA:1662
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Elevated circul...	OMIM:619534
Cog1-Cdg	Posterior rib gap, Rib fusion, Failure to thrive	ORPHA:263508
Orofaciodigital Syndrome Type 14	Low-set, posteriorly rotated ears, Partial agenesis of the corpus callosum, Periventricular heter...	ORPHA:434179
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Pectus excavatum, Narrow chest	OMIM:610682
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Thin ribs	OMIM:225400
Proteus Syndrome	Low-set ears, Narrow internal auditory canal, Exostosis of the external auditory canal, Gray matt...	ORPHA:744
Wiedemann-Rautenstrauch Syndrome	Thin ribs, Narrow chest, Failure to thrive, Hypertriglyceridemia, Small for gestational age	OMIM:264090
Genitopatellar Syndrome	Hearing impairment, Periventricular heterotopia, Agenesis of corpus callosum, Colpocephaly, Pachy...	OMIM:606170
Coccidioidomycosis	Broad ribs	ORPHA:228123
Fetal Akinesia Deformation Sequence 1	Thin ribs, Small for gestational age, Thoracic hypoplasia	OMIM:208150
Wolf-Hirschhorn Syndrome	Failure to thrive, Rib segmentation abnormalities, Rib fusion, Abnormal sternal ossification, Sma...	OMIM:194190
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Long clavicles, Failure to thrive	ORPHA:83617
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Pectus carinatum, Broad clavicles, Broad ribs, Barrel-shaped chest, Prominent sternum, Congenital...	OMIM:276820
Femoral-Facial Syndrome	Missing ribs, 11 pairs of ribs, Sprengel anomaly, Rib fusion	OMIM:134780
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs	ORPHA:217093
Chromosome 1P36 Deletion Syndrome, Distal	Rib fusion, Obesity, Bifid ribs, 11 pairs of ribs	OMIM:607872
Craniotubular Dysplasia, Ikegawa Type	Broad ribs	OMIM:619727
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Rib fusion, Cervical ribs	ORPHA:500150
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:391665
Fraser Syndrome	Abnormal rib morphology	ORPHA:2052
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Lateral ventricle dilatation, Polymicrogyria, Recurrent otitis media, Periventricular heterotopia...	ORPHA:261537
Mowat-Wilson Syndrome	Conductive hearing impairment, Growth delay, Polymicrogyria, Recurrent otitis media, Periventricu...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Lateral ventricle dilatation, Polymicrogyria, Recurrent otitis media, Periventricular heterotopia...	ORPHA:261552
Baller-Gerold Syndrome	Rib fusion	OMIM:218600
Townes-Brocks Syndrome	Failure to thrive, Abnormal rib morphology	ORPHA:857
Primrose Syndrome	Neurodegeneration	OMIM:259050
Pallister-Hall Syndrome	Rib fusion, Large for gestational age	ORPHA:672
Infantile Spasms Syndrome		ORPHA:3451

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ntrk2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ntrk2.

No publications found that use IMPC mice or data for Ntrk2.

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MGI Allele	Allele Type	Produced
Ntrk2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Ntrk2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ntrk2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ntrk2^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ntrk2 MGI:97384

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Embryo LacZ

Echo

X-ray

MicroCT E18.5

X-ray

X-ray

MicroCT E14.5-E15.5

Adult LacZ

Auditory Brain Stem Response

Immunophenotyping

Immunophenotyping

Human diseases caused by Ntrk2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data