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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
decreased prepulse inhibition	Ntrk2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.92×10^-06
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
preweaning lethality, incomplete penetrance	Ntrk2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Stomach	Wholemount images	heterozygote	50% (1 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
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)
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)
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)
Striatum	N/A	heterozygote	0.0% (0 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.

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

View images

Echo

M-Mode Images

32 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Adult LacZ

LacZ Images Wholemount

6 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

MicroCT E18.5

Embryo reconstruction

1 Images

View images

Immunophenotyping

Panel B FCS file(s)

8 Images

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Auditory Brain Stem Response

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

3 Images

View images

Immunophenotyping

Panel A 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 (937 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	Ataxia, Tremor, Optic atrophy, Abnormality of vision, Downslanted palpebral fissures, Retinal deg...	ORPHA:442835
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	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
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein...	OMIM:619755
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Major Depressive Disorder	Depression	OMIM:608516
Major Affective Disorder 1	Mania, Depression	OMIM:125480
Delayed Puberty, Self-Limited	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:619613
Deafness, Autosomal Dominant 9	Vertigo, Postlingual sensorineural hearing impairment, Abnormality of the vestibulocochlear nerve...	OMIM:601369
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy...	OMIM:609968
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo...	OMIM:614842
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co...	OMIM:614839
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Schwannomatosis 1	Vestibular schwannoma, Peripheral schwannoma	OMIM:162091
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein...	OMIM:616030
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Self-injurious behavior, Decreased compound muscle action potential amplitude, Vestibular schwannoma	OMIM:613641
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Elevated circulat...	OMIM:229070
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Acute Zonal Occult Outer Retinopathy	Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con...	ORPHA:284454
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614837
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H...	ORPHA:280356
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona...	OMIM:619326
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin...	OMIM:606762
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A...	OMIM:613986
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula...	OMIM:614897
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov...	ORPHA:79084
Cervical Rib	Cervical ribs	OMIM:117900
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Obesity Due To Melanocortin 4 Receptor Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t...	ORPHA:71529
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Intrauterine growth retarda...	OMIM:615411
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Lissencephaly, X-Linked, 1	Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of cor...	OMIM:300067
Kallmann Syndrome With Spastic Paraplegia	Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog...	OMIM:308750
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level	OMIM:202150
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulating luteinizing h...	ORPHA:453533
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos...	OMIM:308700
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Obesity And Hypopigmentation	Hepatic steatosis, Hyperinsulinemia, Obesity	OMIM:620195
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h...	OMIM:604213
Corticosterone Methyloxidase Type Ii Deficiency	Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas...	OMIM:610600
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon...	OMIM:616950
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia, Obesity	ORPHA:329249
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you...	ORPHA:324575
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:604367
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Glucocorticoid Deficiency 5	Decreased circulating cortisol level, Abnormal response to ACTH stimulation test	OMIM:617825
Mismatch Repair Cancer Syndrome 4	Glioblastoma multiforme, Gray matter heterotopia, Astrocytoma, Agenesis of corpus callosum	OMIM:619101
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:607432
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Macrotia, Optic atrophy	OMIM:300928
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity	OMIM:618406
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin resista...	ORPHA:79085
Arnold-Chiari Malformation Type I	Functional abnormality of the inner ear, Cranial nerve compression, Vertigo, Abnormality of the v...	ORPHA:268882
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Late-Onset Familial Hypoaldosteronism	Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r...	ORPHA:556037
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypogly...	ORPHA:276575
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig...	ORPHA:101029
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon...	OMIM:108420
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Decreased circulating follicle stimulating hormone concentration, Hypogonadotropic hypogonadism, ...	OMIM:619761
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle...	ORPHA:705
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Gliosis	OMIM:300857
Hyperinsulinism-Hyperammonemia Syndrome	Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia	ORPHA:35878
Lissencephaly 3	Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr...	OMIM:611603
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy, Gliosis,...	OMIM:105550
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ...	ORPHA:435651
Early-Onset Familial Hypoaldosteronism	Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r...	ORPHA:556030
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Cherubism	Constriction of peripheral visual field, Macular scar, Optic neuropathy, Reduced visual acuity, L...	OMIM:118400
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin	OMIM:617885
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Hemimegalencephaly	Gray matter heterotopia, Gliosis, Pachygyria, Polymicrogyria, Abnormal neuron morphology	ORPHA:99802
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoac...	OMIM:615238
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Corpus callosum atrophy, Gliosis, Global brain atrophy	OMIM:236792
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay...	OMIM:616033
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ...	ORPHA:435660
Huntington Disease	Cerebellar atrophy, Neuronal loss in central nervous system, Gliosis	OMIM:143100
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:232700
Developmental And Epileptic Encephalopathy 71	Gliosis, Simplified gyral pattern	OMIM:618328
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Developmental And Epileptic Encephalopathy 14	Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy	OMIM:614959
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Optic Atrophy 5	Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte...	OMIM:610708
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Degeneration of anterior horn cells, Axonal degeneration, Gliosis	OMIM:604484
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level	OMIM:607398
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology	DECIPHER:29
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased testicular size, Decreased serum leptin, Obesity	OMIM:614962
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ...	ORPHA:276556
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Insulin...	ORPHA:363400
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Neuronal loss in central nervous system, Gliosis, Cerebral atrophy	OMIM:604218
Intellectual Developmental Disorder, X-Linked 104	Abnormal pinna morphology, Hyperactivity, Optic atrophy, Aggressive behavior	OMIM:300983
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Obesity	OMIM:608320
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycystic ovaries, Ty...	ORPHA:3085
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab...	ORPHA:791
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H...	ORPHA:293964
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Abnormal repetitive mannerisms, Hyperactivity, Optic atrophy, Aggressive behavior	OMIM:619470
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity	ORPHA:369873
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent...	OMIM:615842
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane...	OMIM:151660
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration	OMIM:618709
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube...	ORPHA:90793
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,...	OMIM:300614
Perlman Syndrome	Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal pancreas morphology, Hype...	ORPHA:2849
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Corpus callosum atrophy, Neuronal loss in central nervous system, Gliosis, Global brain atrophy	OMIM:221820
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c...	OMIM:615830
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h...	ORPHA:79319
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Facial diplegia, ...	OMIM:611890
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas...	ORPHA:263455
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating...	ORPHA:1227
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue los...	ORPHA:528
Pick Disease Of Brain	Neuronal loss in central nervous system, Gliosis	OMIM:172700
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,...	ORPHA:100973
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Gliosis, Simplified gyral pattern, Cerebral atrophy	OMIM:615095
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormal rib morphology, Pectus carinatum	ORPHA:3268
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly	ORPHA:352682
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul...	ORPHA:79237
Branchiootorenal Syndrome 1	Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch...	OMIM:113650
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Ovarian cyst, Severe fail...	OMIM:246200
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology, Dysphagia	OMIM:611637
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Gliosis...	ORPHA:275872
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome	OMIM:201910
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Neurodegeneration, Cerebral atrophy	OMIM:610951
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Pse...	OMIM:606353
Superficial Siderosis	Abnormality of the brachial nerve plexus, Vertigo, Bilateral sensorineural hearing impairment, Ab...	ORPHA:247245
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition...	OMIM:303110
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	OMIM:615703
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,...	OMIM:604317
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Thoracic Dysostosis, Isolated	Pectus excavatum, Short ribs, Bell-shaped thorax	OMIM:187750
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula...	OMIM:219080
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper...	ORPHA:2298
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Bilateral Striopallidodentate Calcinosis	Intrauterine growth retardation, Abnormality of neuronal migration	ORPHA:1980
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Diaminopentanuria	Neurodegeneration	OMIM:222350
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose...	ORPHA:2457
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Caudate atrophy, Gliosis, Cerebral atrophy	OMIM:221770
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Pachygyria, Gliosis, Abnormal astrocyte morphology	ORPHA:168486
Maternal Hyperthermia-Induced Birth Defects	Intrauterine growth retardation, Short stature, Abnormality of neuronal migration	ORPHA:2216
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231183
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Optic atrophy	OMIM:274270
Immunodeficiency 83, Susceptibility To Viral Infections	Gliosis	OMIM:613002
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Constriction of peripheral visual field, Ataxia, Bilateral p...	ORPHA:1215
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Gliosis, Neuronal loss in central nervou...	OMIM:256600
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se...	ORPHA:206484
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Obesity, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ...	OMIM:615633
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty...	OMIM:615191
Sporadic Creutzfeldt-Jakob Disease	Gliosis, Astrocytosis	ORPHA:204
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Cerebral visual impairment, Tremor, Vi...	ORPHA:52368
Autosomal Recessive Primary Microcephaly	Short stature, Growth delay, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum	ORPHA:2512
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Gliosis, Cerebral cortical atrophy	OMIM:618369
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Optic Atrophy 8	Abnormal auditory evoked potentials, Visual loss, Central scotoma, Abnormality of pattern visual ...	OMIM:616648
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ...	ORPHA:101030
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi...	ORPHA:79086
Spinocerebellar Ataxia 17	Cerebellar atrophy, Diffuse cerebral atrophy, Neuronal loss in central nervous system, Gliosis	OMIM:607136
Distal Deletion 10Q	Aggressive behavior, Congenital sensorineural hearing impairment, Cochlear malformation, Protrudi...	ORPHA:96148
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs	OMIM:617405
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Elevated circulating follicle stimulating hormon...	OMIM:620103
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Ataxia, Tremor, Nyctalopia, Dysmetria, Dysdiadochokinesis, D...	ORPHA:96
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Dysphagia	ORPHA:247604
Pontocerebellar Hypoplasia, Type 4	Gliosis	OMIM:225753
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Spinocerebellar Ataxia, Autosomal Recessive 2	Gliosis, Cerebellar vermis atrophy	OMIM:213200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Astrocytosis	OMIM:600795
Usher Syndrome Type 1	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231169
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodystrophy...	OMIM:608594
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Kyphomelic Dysplasia	Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Narrow chest	ORPHA:1801
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepa...	OMIM:602579
Familial Infantile Bilateral Striatal Necrosis	Basal ganglia gliosis, Astrocytosis	ORPHA:225154
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l...	ORPHA:99429
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Amblyopia, Reduced visual acuity, Depigm...	ORPHA:352731
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased...	ORPHA:189427
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti...	OMIM:618195
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis...	OMIM:608612
Acalvaria	Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration, Spina bifida	ORPHA:945
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Behavioral Variant Of Frontotemporal Dementia	Astrocytosis	ORPHA:275864
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Pachygyria, Macrotia, Partial agenesis of the corpus callosum, Simpl...	OMIM:616212
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,...	ORPHA:300573
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ...	ORPHA:90790
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Gliosis	OMIM:615119
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Hyperactivity, Optic atrophy, Aggressive behavior, Hearing impairment	ORPHA:369939
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebellar gliosis, Cerebral atrophy, Gliosis, Basal ganglia gliosis, Polymicrogyria	ORPHA:79243
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis...	OMIM:269700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Short stature, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified g...	OMIM:616171
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Astrocytosis	OMIM:611087
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Neurofibromatosis, Type Iii, Mixed Central And Peripheral	Paraspinal neurofibroma, Palmar neurofibroma, Bilateral vestibular schwannoma	OMIM:162260
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Neurodegeneration, Gliosis, Brain atrophy	OMIM:214150
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Basal ganglia gliosis, Neuronal los...	OMIM:604377
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo...	OMIM:203800
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul...	OMIM:611584
Mepan Syndrome	Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Reduced visual acuity, Lim...	ORPHA:508093
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second...	ORPHA:90796
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating androstenedion...	ORPHA:90791
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc...	ORPHA:314478
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Low-set ears, Int...	ORPHA:89844
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ...	ORPHA:280365
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Thoracolaryngopelvic Dysplasia	Irregular chondrocostal junctions, Bell-shaped thorax, Short ribs, Slender build, Horizontal ribs	OMIM:187760
Primary Non-Essential Cutis Verticis Gyrata	Gliosis	ORPHA:357225
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Gliosis, Atrophy/Degeneration aff...	OMIM:614946
Adducted Thumbs Syndrome	Myelin-dependent gliosis	OMIM:201550
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ...	OMIM:248370
Lissencephaly, X-Linked, 2	Pachygyria, Lissencephaly, Gliosis	OMIM:300215
Friedreich Ataxia	Impaired vibratory sensation, Ataxia, Optic atrophy, Reduced visual acuity, Impaired propriocepti...	OMIM:229300
Canavan Disease	Abnormality of retinal pigmentation, Blindness, Optic atrophy, Abnormality of visual evoked poten...	ORPHA:141
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Fasting hyperinsulinemia, Hypoglycemic seiz...	ORPHA:71212
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Amblyopia, Long eyelashes, Abnormality of...	OMIM:617523
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Fle...	OMIM:613327
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Neuronal loss in central nervous system, Neurodegeneration, Gliosis	OMIM:616239
Inherited Creutzfeldt-Jakob Disease	Astrocytosis	ORPHA:282166
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology	OMIM:607641
Leptin Receptor Deficiency	Abnormal eating behavior, Aggressive behavior, Abnormal hypothalamus morphology, Emotional labili...	OMIM:614963
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Increased circulating androstenedione concentration, Increa...	OMIM:615962
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Inguinal hernia, Congenital adrenal hyperplasia, Increased serum testosterone l...	ORPHA:96181
Peroxisomal Acyl-Coa Oxidase Deficiency	Myopia, Epicanthus, Optic atrophy, Respiratory insufficiency, Abnormality of visual evoked potent...	ORPHA:2971
Boucher-Neuhauser Syndrome	Decreased circulating gonadotropin concentration, Chorioretinal dystrophy, Retinal dystrophy, Hyp...	OMIM:215470
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Central scotoma, Optic atrophy, Slo...	OMIM:601152
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	High-frequency sensorineural hearing impairment, Abnormal lower motor neuron morphology, Tremor, ...	ORPHA:2590
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres...	ORPHA:251274
Leber Congenital Amaurosis	Encephalocele, Abnormality of neuronal migration, Hearing impairment	ORPHA:65
Craniodiaphyseal Dysplasia	Abnormal rib morphology	ORPHA:1513
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia	OMIM:616437
Heart Defects-Limb Shortening Syndrome	Abnormal rib morphology, Narrow chest	ORPHA:1354
Brain Small Vessel Disease 2	Growth delay, Subcortical heterotopia, Polymicrogyria	OMIM:614483
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Abnormal rib morphology	ORPHA:2790
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Gliosis	OMIM:612936
Full Schwannomatosis	Bilateral vestibular schwannoma, Schwannoma, Peripheral schwannoma, Tinnitus, Hearing impairment	ORPHA:93921
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Huntington Disease-Like 1	Cerebellar atrophy, Gliosis, Cerebral cortical atrophy	ORPHA:157941
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Leukoencephalopathy With Vanishing White Matter 1	Gliosis	OMIM:603896
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia	OMIM:201400
Pelizaeus-Merzbacher Disease	Ataxia, Optic atrophy, Respiratory insufficiency, Choreoathetosis, Dystonia, Abnormality of visua...	ORPHA:702
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Moderately reduced visual acuity, Retinal coloboma, Chorioretinal coloboma, Severely reduced visu...	ORPHA:2921
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Neuronal loss in central nervous system, Gliosis	OMIM:614498
Severe Early-Childhood-Onset Retinal Dystrophy	Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ...	ORPHA:364055
Jeune Syndrome	Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,...	ORPHA:474
Benign Schwannoma	Facial palsy, Hearing abnormality, Schwannoma, Vertigo, Peripheral schwannoma, Abnormality of the...	ORPHA:252164
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Short stature, Abnormality of neuronal migration	ORPHA:2204
Intellectual Developmental Disorder, X-Linked 12	Gliosis, Abnormality of neuronal migration	OMIM:300957
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Orthostatic hypotension, Neurogenic bladder	OMIM:263570
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
7Q31 Microdeletion Syndrome	Hyperactivity, Torticollis, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Abno...	ORPHA:251061
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction...	OMIM:606070
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph...	ORPHA:95699
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens...	ORPHA:50815
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Astrocytosis	ORPHA:100070
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase...	ORPHA:786
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Desmosterolosis	Low-set, posteriorly rotated ears, Severe short stature, Abnormal cortical gyration, Pachygyria, ...	ORPHA:35107
Leigh Syndrome	Gliosis, Hepatocellular necrosis	OMIM:256000
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ...	OMIM:614324
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Disproportionate short-limb short stature, Abnormality of neur...	ORPHA:2772
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent...	OMIM:201810
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Dysphagia	OMIM:607225
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Synotia, Narrow internal auditory canal, Abnormal cranial nerv...	ORPHA:990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Short stature, Abnormality of neuronal migration	OMIM:608840
Mosaic Trisomy 14	Failure to thrive, Abnormal rib morphology, Narrow chest	ORPHA:1703
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology	ORPHA:52430
Walker-Warburg Syndrome	Posteriorly rotated ears, Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of n...	ORPHA:899
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration	ORPHA:438134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Subcortical heterotopia, Agyria, Hydrocephalus, Partial agenesis of the corpus cal...	OMIM:614643
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ataxia, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Visual impa...	ORPHA:1933
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Thanatophoric Dysplasia Type 2	Encephalocele, Short stature, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly...	ORPHA:93274
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Apparent Mineralocorticoid Excess	Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir...	ORPHA:320
Optic Atrophy 11	Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia, Optic atrophy...	OMIM:617302
Müllerian Aplasia And Hyperandrogenism	Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm...	ORPHA:247768
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Progressive Supranuclear Palsy	Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy	ORPHA:683
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Apert Syndrome	Sensorineural hearing impairment, Optic atrophy, Abnormal semicircular canal morphology, Chiari m...	ORPHA:87
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:369929
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Corpus callosum atrophy, Gliosis	OMIM:169500
Lamb-Shaffer Syndrome	Abnormal repetitive mannerisms, Hyperactivity, Optic atrophy, Abnormal temper tantrums	ORPHA:530983
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy	OMIM:617672
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum	OMIM:164180
Rabson-Mendenhall Syndrome	Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose ...	ORPHA:769
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Posteriorly rotated ears, Sensorineural hearing impairment, Hydrocep...	OMIM:615219
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Impulsivity, Tr...	OMIM:614298
Neonatal Adrenoleukodystrophy	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Short stature, Abnormality o...	ORPHA:44
Machado-Joseph Disease Type 3	Cerebellar atrophy, Dilated fourth ventricle, Abnormal lower motor neuron morphology, Substantia ...	ORPHA:276244
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Gliosis	OMIM:608033
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Hypophosphatasia	Hypercalcemia, Abnormal rib morphology, Failure to thrive in infancy, Narrow chest	ORPHA:436
Grant Syndrome	Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest	ORPHA:2097
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Short stature, Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
Autosomal Dominant Spondylocostal Dysostosis	Short thorax, Posterior rib fusion, Abnormal rib morphology, Missing ribs	ORPHA:1797
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Myopia, Cerebral visual impairment, Optic atrophy, Hypermetropia, Dystonia, Abnormality of visual...	OMIM:616875
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria	ORPHA:370980
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Neurodegeneration	OMIM:615889
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Agen...	OMIM:207950
Galloway-Mowat Syndrome	Short stature, Pachygyria, Aqueductal stenosis, Abnormality of neuronal migration, Hypoplasia of ...	ORPHA:2065
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy	OMIM:607485
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem	OMIM:612319
Schwannomatosis, Vestibular	Bilateral vestibular schwannoma, Vertigo, Peripheral schwannoma, Occasional neurofibromas, Unilat...	OMIM:101000
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration, Low-set ears	ORPHA:1895
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Pachygyria, Lissencephaly, Astrocytosis	ORPHA:258
Pontocerebellar Hypoplasia, Type 2A	Gliosis, Cerebral cortical atrophy	OMIM:277470
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins...	ORPHA:508
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Gliosis	ORPHA:457240
Charcot-Marie-Tooth Disease, Type 4D	Myopia, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve cond...	OMIM:601455
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Cochlear degeneration, Hearing impairment	ORPHA:95433
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:98754
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Dysphagia, Abnormal upper mot...	ORPHA:35689
Thanatophoric Dysplasia	Hydrocephalus, Gray matter heterotopia, Disproportionate short-limb short stature, Low-set ears, ...	ORPHA:2655
Infantile Neuroaxonal Dystrophy	Peripheral axonal neuropathy, Hyperactivity, Impulsivity, Optic atrophy, Diffuse axonal swelling,...	ORPHA:35069
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly	OMIM:184400
Microphthalmia, Isolated 8	Retinal detachment, Entropion, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal coloboma...	OMIM:615113
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Diffuse cerebral atrophy, Gliosis, Atrophy/Degeneration affecting the brainst...	OMIM:617193
Satoyoshi Syndrome	Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of...	ORPHA:3130
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Generalized dystonia, Dyst...	OMIM:205100
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:98793
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology	OMIM:611067
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology	ORPHA:1506
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol...	OMIM:605814
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ...	OMIM:176270
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:177904
Poland Syndrome	Sprengel anomaly, Rib fusion, Short ribs	OMIM:173800
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:177901
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Overweight, Obesity, Truncal obesity, Hyperchole...	OMIM:616222
Rett Syndrome	Failure to thrive, Cholecystitis, Increased serum leptin	ORPHA:778
Fibrochondrogenesis 2	Bell-shaped thorax, Cupped ribs, Short ribs, Thoracic hypoplasia	OMIM:614524
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Abnormal rib morphology, Narrow chest	ORPHA:93267
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Spondylocostal Dysostosis 5	Pectus carinatum, Posterior rib fusion, Supernumerary ribs, Missing ribs	OMIM:122600
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Flaring of lower rib cage, Cupped ribs, Defor...	ORPHA:168549
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog...	ORPHA:2126
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing...	OMIM:610706
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Posteriorly rotated ears, Abnormal cortical gyration, Pachygyria, Abnormality of n...	ORPHA:2211
Familial Renal Glucosuria	Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm...	ORPHA:69076
Lymphangiectasia, Intestinal	Prominent floating ribs, Neonatal hypoproteinemia	OMIM:152800
Metatropic Dysplasia	Long thorax, Abnormal rib morphology, Narrow chest	ORPHA:2635
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Obesity	ORPHA:254531
Machado-Joseph Disease	Cerebellar atrophy, Gliosis	OMIM:109150
Neurodegeneration With Brain Iron Accumulation 6	Neurodegeneration	OMIM:615643
Stankiewicz-Isidor Syndrome	Hyperactivity, Abnormal optic disc morphology, Low-set ears, Hearing impairment	OMIM:617516
Achondrogenesis Type 1B	Short thorax, Abnormal rib morphology, Narrow chest	ORPHA:93298
Pelizaeus-Merzbacher Disease, Connatal Form	Gliosis, Macrogyria	ORPHA:280210
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Gliosis, Cerebral atrophy	OMIM:619847
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Neurodegeneration, Gliosis, Cerebral atrophy	OMIM:618321
Tetrasomy 18P	Low-set, posteriorly rotated ears, Abnormality of neuronal migration	ORPHA:3307
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia	OMIM:613954
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis	OMIM:606688
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Intrauterine growth retardation, Short stature, Abnormality of neuronal migration, Protruding ear	ORPHA:2518
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diffuse cerebral atrophy, Gliosis	ORPHA:3240
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration	ORPHA:803
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Osteogenesis Imperfecta, Type Ix	Pectus excavatum, Pectus carinatum, Beaded ribs	OMIM:259440
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Sensorineural heari...	OMIM:617201
Cat-Eye Syndrome	Abnormal rib morphology	ORPHA:195
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:739
Cockayne Syndrome Type 3	Mild postnatal growth retardation, Astrocytosis, Adult onset sensorineural hearing impairment, Co...	ORPHA:90324
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Renpenning Syndrome	Pectus excavatum, Sprengel anomaly, Abnormal rib morphology, Cachexia	ORPHA:3242
Atypical Werner Syndrome	Hepatic steatosis, Decreased body weight, Diabetes mellitus, Lipoatrophy, Failure to thrive, Abno...	ORPHA:79474
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Sprengel anomaly, Abnormal rib morphology	ORPHA:2345
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
16P13.11 Microdeletion Syndrome	Short stature, Sensorineural hearing impairment, Abnormality of neuronal migration, Atresia of th...	ORPHA:261236
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia, Macrotia	OMIM:619694
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Agenesis of corp...	ORPHA:370959
Japanese Encephalitis	Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Ab...	ORPHA:79139
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatic periportal necrosis, Pachygyria, Gliosis	OMIM:231680
Supranuclear Palsy, Progressive, 1	Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Gliosis, Senile plaques, Neuronal l...	OMIM:601104
Becker Nevus Syndrome	Pectus excavatum, Rib fusion, Supernumerary ribs, Pectus carinatum	ORPHA:64755
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Abnormal rib morphology, Obesity	ORPHA:2234
Parkinson Disease 1, Autosomal Dominant	Gliosis, Global brain atrophy	OMIM:168601
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Gliosis, Corpus callosum atrophy, Cerebral cortical atrophy	OMIM:248500
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Hepatic periportal necrosis, Gliosis	ORPHA:26791
Craniodiaphyseal Dysplasia, Autosomal Dominant	Thickened ribs	OMIM:122860
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion	OMIM:608681
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia, Short clavicles	ORPHA:401923
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis, Congenital diaphragmatic hernia	OMIM:611812
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology	ORPHA:2643
Developmental And Epileptic Encephalopathy 58	Optic atrophy	OMIM:617830
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Gait ataxia, Progressi...	ORPHA:309256
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Abnormal autonomic nervous system physiology, Decreased number of small peripheral...	OMIM:256800
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Short stature, Posteriorly rotated ears, Periventricular heterotopia, Hydrocephalus, Colpocephaly...	OMIM:619833
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Bell-shaped thorax, Elevated circ...	OMIM:614857
Joubert Syndrome 5	Central apnea, Ataxia, Episodic tachypnea, Reduced visual acuity, Retinal coloboma, Congenital bl...	OMIM:610188
Spondylocostal Dysostosis 3, Autosomal Recessive	Rib fusion	OMIM:609813
Pyruvate Dehydrogenase E1-Beta Deficiency	Intrauterine growth retardation, Pachygyria, Agenesis of corpus callosum, Periventricular heterot...	ORPHA:255138
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Charge Syndrome	Low-set, posteriorly rotated ears, Facial palsy, Hearing impairment, Aqueductal stenosis, Externa...	ORPHA:138
Krabbe Disease	Diffuse cerebral atrophy, Neurodegeneration	OMIM:245200
Osteogenesis Imperfecta, Type Ii	Small for gestational age, Beaded ribs, Thin ribs, Bell-shaped thorax, Thoracic hypoplasia	OMIM:166210
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan...	OMIM:614098
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Progressive gait ataxi...	ORPHA:309263
Laron Syndrome	Truncal obesity, Hypercholesterolemia	ORPHA:633
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Pectus excavatum, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:2522
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Increased body weight	OMIM:182290
Gorham-Stout Disease	Abnormality of the internal auditory canal, Hearing impairment	ORPHA:73
Distal Renal Tubular Acidosis	Sensorineural hearing impairment, Enlarged vestibular aqueduct	ORPHA:18
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology	ORPHA:2578
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
White Forelock With Malformations	Sprengel anomaly, Abnormal rib morphology	ORPHA:2475
Familial Acute Necrotizing Encephalopathy	Gliosis	ORPHA:88619
3C Syndrome	Short stature, Postnatal growth retardation, Hydrocephalus, Abnormality of neuronal migration, Lo...	ORPHA:7
Thanatophoric Dysplasia, Type I	Hydrocephalus, Gray matter heterotopia, Disproportionate short-limb short stature, Neonatal death...	OMIM:187600
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Obesity, Hyperuricemia	ORPHA:77296
Joubert Syndrome	Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Low-set ears, Polymicrogyria	ORPHA:475
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sprengel anomaly, Abnormal rib morphology, Obesity	ORPHA:2180
Achondrogenesis Type 1A	Multiple rib fractures, Short thorax, Narrow chest	ORPHA:93299
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Neurodegeneration	OMIM:620210
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Cachexia	ORPHA:93941
Li-Ghorbani-Weisz-Hubshman Syndrome	Low-set ears, Periventricular heterotopia	OMIM:618974
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Neurodegeneration, Cerebral atrophy	OMIM:300894
Mogs-Cdg	Respiratory distress, Absent brainstem auditory responses, Hypoventilation, Apnea, Optic atrophy,...	ORPHA:79330
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs	OMIM:617895
Fibrochondrogenesis	Hypoplastic scapulae, Abnormal rib morphology, Bell-shaped thorax, Short ribs, Narrow chest, Broa...	ORPHA:2021
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Ocular albinism, Photophobia, Abnormal optic nerve morphology, Abnormali...	ORPHA:79431
Cog4-Cdg	Hypercholesterolemia, Failure to thrive in infancy	ORPHA:263501
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy	OMIM:615157
Holt-Oram Syndrome	Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Abnormal rib morphology, ...	ORPHA:392
Kleefstra Syndrome Due To A Point Mutation	Gliosis	ORPHA:261652
Neu-Laxova Syndrome	Abnormal cortical gyration, Spina bifida, Pachygyria, Macrotia, Abnormality of neuronal migration...	ORPHA:2671
Lethal Congenital Contracture Syndrome 1	Neonatal death, Paucity of anterior horn motor neurons	OMIM:253310
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Bardet-Biedl Syndrome 1	Decreased testicular size, Bone spicule pigmentation of the retina, Diabetes mellitus, Retinal dy...	OMIM:209900
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Truncal obesity, Small for gestational age, Obesity, Hypercholesterolemia	ORPHA:96184
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Hsd10 Disease, Infantile Type	Frontotemporal cerebral atrophy, Diffuse cerebral atrophy, Neurodegeneration, Cerebral atrophy	ORPHA:391428
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Astrocytosis	ORPHA:309854
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Oligodendroglioma, Ependymoma, Gray matter heterotopia, Age...	OMIM:276300
Congenital Disorder Of Deglycosylation 2	Partial agenesis of the corpus callosum, Gray matter heterotopia, Microtia, Cleft earlobe, Polymi...	OMIM:619775
Femoral-Facial Syndrome	Rib fusion, Abnormal rib morphology, Sprengel anomaly	ORPHA:1988
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Polymicrogyria, Corpus callosum atrophy, Gliosis	OMIM:261515
Autosomal Recessive Kenny-Caffey Syndrome	Thin clavicles, Thin ribs, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:93324
Vici Syndrome	Gray matter heterotopia, Sensorineural hearing impairment, Agenesis of corpus callosum, Short sta...	ORPHA:1493
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Van Maldergem Syndrome 1	Sensorineural hearing impairment, Subcortical band heterotopia, Simplified gyral pattern, Growth ...	OMIM:601390
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormal rib morphology	OMIM:601076
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Gliosis, Astrocytosis	OMIM:203700
Cardiospondylocarpofacial Syndrome	Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic...	OMIM:157800
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs	ORPHA:2519
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Gliosis, Cerebral atrophy	OMIM:252160
Achondrogenesis, Type Ia	Barrel-shaped chest, Hypoplastic scapulae, Beaded ribs, Short thorax, Bell-shaped thorax, Narrow ...	OMIM:200600
Septopreoptic Holoprosencephaly	Abnormal rib morphology	ORPHA:280195
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Small for gestational age, Thoracic hypoplasia, Large for gestational age	ORPHA:254534
Metatropic Dysplasia	Clavicular pseudarthrosis, Cupped ribs, Short ribs, Narrow chest, Flaring of rib cage	OMIM:156530
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Thin ribs, Hypocalcemia, Hypomagnesemia	OMIM:244460
Fragile X Syndrome	Macrotia, Periventricular heterotopia	OMIM:300624
Tay-Sachs Disease	Cerebellar atrophy, Gliosis, Global brain atrophy	ORPHA:845
Joubert Syndrome With Oculorenal Defect	Low-set, posteriorly rotated ears, Hydrocephalus, Encephalocele, Abnormality of neuronal migration	ORPHA:2318
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal rib morphology, Pectus carinatum	ORPHA:93351
Infantile-Onset X-Linked Spinal Muscular Atrophy	Cupped ribs, Short ribs, Mildly elevated creatine kinase	ORPHA:1145
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:881
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Chorea, Optic atrophy, Reduced visual acuity, Progressive ga...	ORPHA:309271
Carnitine Palmitoyltransferase Ii Deficiency	Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus ...	ORPHA:157
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity	ORPHA:209902
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Leigh Syndrome	Cerebellar atrophy, Gliosis	ORPHA:506
Craniosynostosis, Herrmann-Opitz Type	Abnormal rib morphology	ORPHA:2145
Holoprosencephaly 14	Alobar holoprosencephaly, Periventricular heterotopia, Aqueductal stenosis, Hydrocephalus, Partia...	OMIM:619895
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Tremor, Optic atrophy, Abnormality of vision, Downslanted palpebral fissures, Retinal deg...	ORPHA:442835
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	ORPHA:412
Nestor-Guillermo Progeria Syndrome	Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin	OMIM:614008
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal rib morphology, Missing ribs	ORPHA:2759
Radio-Tartaglia Syndrome	Gray matter heterotopia, Large earlobe, Low-set ears, Conductive hearing impairment, Agenesis of ...	OMIM:619312
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy	ORPHA:478029
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Elevated circulating creatine kinase concentration, Thin ribs	OMIM:615368
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Neurocutaneous Melanocytosis	Meningocele, Abnormality of neuronal migration	ORPHA:2481
Hereditary Late-Onset Parkinson Disease	Gliosis, Cerebral cortical atrophy	ORPHA:411602
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus, Lethal short-limbed short stature, Hearing impairment	ORPHA:1860
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Gray matter heterotopia	ORPHA:531151
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Galloway-Mowat Syndrome 7	Pectus excavatum, Hypercholesterolemia	OMIM:618348
Supranuclear Palsy, Progressive, 2	Neuronal loss in central nervous system, Gliosis, Granulovacuolar degeneration	OMIM:609454
Alkuraya-Kucinskas Syndrome	Posteriorly rotated ears, Hydrocephalus, Gray matter heterotopia, Lissencephaly, Low-set ears	OMIM:617822
Diastrophic Dysplasia	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:628
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo...	ORPHA:273
Hermansky-Pudlak Syndrome	Myopia, Epistaxis, Amblyopia, Dyspnea, Ocular albinism, Photophobia, Abnormal optic nerve morphol...	ORPHA:79430
Molybdenum Cofactor Deficiency, Complementation Group A	Gliosis, Cerebral atrophy	OMIM:252150
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Mixed hearing impairment, Gray matter heterotopia, Low-set ears, Thickened helices, Overfolded helix	OMIM:608624
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Neurodegeneration, Cerebral atrophy	OMIM:615491
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro...	ORPHA:1435
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal rib morphology, Pectus carinatum	ORPHA:3082
Prune Belly Syndrome	Pectus excavatum, Failure to thrive, Abnormal rib morphology	ORPHA:2970
Liver Disease, Severe Congenital	Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, Hepatic steatosi...	OMIM:619991
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Small for gestational age, Beaded ribs, Short ribs, Thoracic hypoplasia	OMIM:616897
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Obesity	ORPHA:819
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Rib fusion, Short thorax, Abnormal rib morphology	ORPHA:2311
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria	OMIM:617397
Cooper-Jabs Syndrome	Abnormal rib morphology, Missing ribs	ORPHA:1488
Three M Syndrome 2	Scapular winging, Small for gestational age, Short thorax, Thin ribs, Pectus carinatum	OMIM:612921
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Optic atrophy, Impulsivity, Dysphagia	OMIM:610217
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Gliosis, Cerebral cortical atrophy	OMIM:301072
Mesomelic Dysplasia, Kantaputra Type	Abnormal rib morphology	ORPHA:1836
Fibrochondrogenesis 1	Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Thin clavicles, Thin ribs, Short ribs...	OMIM:228520
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Posteriorly rotated ears, Abnormality of neuronal migration, Low-set ears, Overfolded helix, Poly...	OMIM:608836
Lethal Congenital Contracture Syndrome Type 1	Abnormal rib morphology	ORPHA:1486
Gm2 Gangliosidosis, Ab Variant	Neurodegeneration, Cerebral atrophy	ORPHA:309246
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Posteriorly rotated ears, Abnormality of neuronal migration	ORPHA:2063
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Patent ductus arteriosus, Neuronal loss in central nervous system, Gliosis, Cerebral cortical atr...	OMIM:300868
Man1B1-Cdg	Macrotia, Low-set ears, Periventricular heterotopia	ORPHA:397941
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus ...	ORPHA:228308
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Posteriorly rotated ears, Periventricular heterotopia, Low-set ears, Thickened helices, Agenesis ...	OMIM:618929
Van Maldergem Syndrome 2	Sensorineural hearing impairment, Subcortical band heterotopia, Growth delay, Gray matter heterot...	OMIM:615546
Osteogenesis Imperfecta, Type Xv	Thin ribs	OMIM:615220
Cerebrofacioarticular Syndrome	Short stature, Dysplastic corpus callosum, Gray matter heterotopia, Microtia, Conductive hearing ...	ORPHA:314679
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation, Periventricular heterotopia	OMIM:614105
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Short stature, Gray matter heterotopia, Neonatal death, Pachygyria, Heari...	OMIM:620024
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Decreased body weight	OMIM:614833
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Papillorenal Syndrome	Gliosis	OMIM:120330
Noonan Syndrome	Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin...	ORPHA:648
Klippel-Feil Syndrome 1, Autosomal Dominant	Sprengel anomaly, Abnormal rib morphology	OMIM:118100
Bohring-Opitz Syndrome	Short stature, Posteriorly rotated ears, Mesomelic/rhizomelic limb shortening, Gray matter hetero...	OMIM:605039
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, Severe short stature, Periventricular heterotopia, Pachygyria,...	ORPHA:468631
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration, Abnormal neuron morphology	ORPHA:163681
Osteogenesis Imperfecta, Type Xvi	Multiple rib fractures, Small for gestational age, Narrow chest, Beaded ribs	OMIM:616229
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Decreased body weight	OMIM:618265
Peroxisome Biogenesis Disorder 13A (Zellweger)	Neonatal death, Gray matter heterotopia, Polymicrogyria	OMIM:614887
Melnick-Needles Syndrome	Short thorax, Abnormal rib morphology, Narrow chest, Short clavicles	ORPHA:2484
Spondylocostal Dysostosis 4, Autosomal Recessive	Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell-shaped thorax	OMIM:613686
Trisomy 13	Abnormal rib morphology, Narrow chest	ORPHA:3378
Spondylocostal Dysostosis 1, Autosomal Recessive	Rib fusion	OMIM:277300
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Thin ribs	OMIM:300863
Legius Syndrome	Hyperactivity, Neurofibroma, Vestibular schwannoma, Attention deficit hyperactivity disorder, Hea...	ORPHA:137605
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Axonal degeneration, Gliosis, Global brain atrophy	ORPHA:909
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Abnormal rib morphology, Pectus carinatum	ORPHA:3068
Miller-Dieker Lissencephaly Syndrome	Posteriorly rotated ears, Gray matter heterotopia, Lissencephaly, Low-set ears, Intrauterine grow...	OMIM:247200
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Broad ribs, Elevated circulating C-reactive protein concentration, Failure to thrive in infancy, ...	OMIM:612852
Tetraamelia Syndrome 1	Asplenia, Adrenal gland agenesis, Congenital diaphragmatic hernia	OMIM:273395
Autosomal Dominant Centronuclear Myopathy	Thin ribs, Mildly elevated creatine kinase, Large for gestational age	ORPHA:169189
Coffin-Lowry Syndrome	Sensorineural hearing impairment, Short stature, Abnormality of neuronal migration, Protruding ear	ORPHA:192
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Gliosis, Cerebral atrophy	ORPHA:404454
Mitochondrial Complex I Deficiency, Nuclear Type 2	Gliosis	OMIM:618222
3M Syndrome	Scapular winging, Short thorax, Thin ribs, Enlarged thorax, Horizontal ribs	ORPHA:2616
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology, Resting tremor	OMIM:601162
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Short ribs, Narrow chest, Thoracolumbar kyphosis, Thoracic hypoplasia	OMIM:151210
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus	OMIM:219730
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration, Low-set ears	ORPHA:1454
Juberg-Hayward Syndrome	Abnormal rib morphology	ORPHA:2319
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Gracile Bone Dysplasia	Failure to thrive, Hypocalcemia, Thin ribs	OMIM:602361
Opitz-Kaveggia Syndrome	Short stature, Sensorineural hearing impairment, Hydrocephalus, Partial agenesis of the corpus ca...	OMIM:305450
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Protruding ear, Gray matter heterotopia, Agenesis of corpus callosum,...	OMIM:618820
Mucolipidosis Iii Alpha/Beta	Broad ribs, Increased serum beta-hexosaminidase, Short ribs	OMIM:252600
Achondrogenesis, Type Ii	Barrel-shaped chest, Short ribs, Horizontal ribs	OMIM:200610
Full Nf2-Related Schwannomatosis	Facial palsy, Bilateral vestibular schwannoma, Sensorineural hearing impairment, Peripheral schwa...	ORPHA:637
Aicardi Syndrome	Spina bifida, Postnatal growth retardation, Partial agenesis of the corpus callosum, Gray matter ...	OMIM:304050
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Neurodegeneration, Periventricular heterotopia	OMIM:618476
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Low-set ears	OMIM:617563
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho...	OMIM:210250
Oculocerebrocutaneous Syndrome	Abnormal rib morphology, Missing ribs	ORPHA:1647
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia, Low-set ears	OMIM:618797
Neuromuscular Oculoauditory Syndrome	Posteriorly rotated ears, Periventricular heterotopia, Sensorineural hearing impairment, Agenesis...	OMIM:618733
Low Phospholipid-Associated Cholelithiasis	Overweight, Hypercholesterolemia, Obesity	ORPHA:69663
Cerebral Visual Impairment	Central nervous system degeneration, Neurodegeneration	ORPHA:447788
Cockayne Syndrome	Cerebellar atrophy, Neurogenic bladder, Gliosis, Cerebral atrophy	ORPHA:191
Orofaciodigital Syndrome Type 6	Low-set, posteriorly rotated ears, Short stature, Abnormality of neuronal migration, Growth delay...	ORPHA:2754
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ...	ORPHA:264580
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Thoracic scoliosis, Thin ribs, Narrow chest, Broad ribs, Thoracic hypoplasia	OMIM:613848
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Hydrocephalus, Disproportionate short stature, Partial agenesis of th...	OMIM:210710
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased body weight, Elevated circulating creatine ...	ORPHA:79240
Gm2-Gangliosidosis, Ab Variant	Neurodegeneration, Cerebral atrophy	OMIM:272750
Adrenoleukodystrophy	Neurodegeneration	OMIM:300100
Alg11-Cdg	Gray matter heterotopia, Hearing impairment	ORPHA:280071
Axial Mesodermal Dysplasia Spectrum	Abnormal rib morphology, Missing ribs	ORPHA:1834
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs	ORPHA:456328
6Q Terminal Deletion Syndrome	Low-set, posteriorly rotated ears, Periventricular heterotopia, Abnormality of neuronal migration...	ORPHA:75857
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia, Protruding ear, Colpocephaly, Chronic otitis media, Hearing impairment	ORPHA:261250
Trisomy 1Q	Short thorax, Abnormal rib morphology	ORPHA:261344
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Cupped ribs, Flat glenoid fossa, Obesity, Irregular chondrocostal junctions, Short ribs	OMIM:250420
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Prominent sternum, Thoracic kyphosis, Anterior rib cupping, Thin ribs	OMIM:300232
Hydrolethalus Syndrome 1	Abnormal pinna morphology, Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stil...	OMIM:236680
Cleidocranial Dysplasia	Hypoplastic scapulae, Down-sloping shoulders, Abnormal rib morphology, Narrow chest, Short clavicles	ORPHA:1452
Multiple Pterygium-Malignant Hyperthermia Syndrome	Pectus excavatum, Abnormal circulating creatine kinase concentration, Abnormal rib morphology	ORPHA:2215
Orofaciodigital Syndrome I	Short stature, Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotop...	OMIM:311200
Antley-Bixler Syndrome	Abnormal rib morphology, Narrow chest	ORPHA:83
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplastic scapulae, Thin ribs, Pectus carinatum, Sprengel anomaly	ORPHA:958
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Gliosis, Cerebral atrophy	OMIM:124000
Koolen-De Vries Syndrome	Short stature, Anteverted ears, Gray matter heterotopia, Intrauterine growth retardation, Overfol...	OMIM:610443
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Short stature, Periventricular heterotopia	OMIM:618870
Greenberg Dysplasia	Barrel-shaped chest, 11 pairs of ribs, Sternal punctate calcifications, Long clavicles, Abnormal ...	OMIM:215140
Mucopolysaccharidosis Type 4	Short thorax, Abnormal rib morphology, Pectus carinatum	ORPHA:582
Peroxisome Biogenesis Disorder 1A (Zellweger)	Posteriorly rotated ears, Sensorineural hearing impairment, Gray matter heterotopia, Abnormal hel...	OMIM:214100
Dysosteosclerosis	Sclerotic scapulae, Short sternum, Short ribs, Narrow chest, Broad ribs, Clavicular sclerosis	OMIM:224300
Helsmoortel-Van Der Aa Syndrome	Gliosis	OMIM:615873
Congenital Disorder Of Deglycosylation 1	Gliosis	OMIM:615273
Mucopolysaccharidosis, Type X	Broad ribs, Spatulate ribs, Broad clavicles	OMIM:619698
Cerebrofaciothoracic Dysplasia	Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs	ORPHA:1394
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity, Thin ribs	OMIM:618395
Aspergillosis	Abnormal rib morphology	ORPHA:1163
Kagami-Ogata Syndrome	Bell-shaped thorax, Long clavicles, Thin ribs	OMIM:608149
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Cupped ribs	OMIM:609616
Neurodegeneration With Brain Iron Accumulation 3	Neurodegeneration	OMIM:606159
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Gliosis, Cerebral cortical atrophy	ORPHA:268261
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration, Holoprosencephaly, Atresia of the external auditory canal, Abn...	ORPHA:3186
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Severe Congenital Nemaline Myopathy	Abnormal thorax morphology, Thin ribs	ORPHA:171430
Congenital Disorder Of Glycosylation, Type Iig	Posterior rib gap, Thoracic scoliosis, Failure to thrive in infancy, Rib fusion	OMIM:611209
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Horizontal inferior border of scapula, Short thorax, Pectus carinatum, ...	ORPHA:239
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal rib morphology	ORPHA:3035
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal rib morphology	ORPHA:1120
Holoprosencephaly	Encephalocele, External ear malformation, Hydrocephalus, Abnormality of neuronal migration, Spina...	ORPHA:2162
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Periventricular Nodular Heterotopia 9	Posteriorly rotated ears, Gray matter heterotopia, Microtia, Squared superior portion of helix, P...	OMIM:618918
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Campomelia, Cumming Type	Abnormal thorax morphology, Abnormal rib morphology	ORPHA:1318
Hyperparathyroidism, Transient Neonatal	Undulate ribs, Thin ribs, Short ribs, Narrow chest, Fractured rib	OMIM:618188
Phaver Syndrome	Abnormal rib morphology	ORPHA:2876
Bilateral Perisylvian Polymicrogyria	Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per...	ORPHA:98889
Pmm2-Cdg	Elevated hepatic transaminase, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipody...	ORPHA:79318
Tetraamelia-Multiple Malformations Syndrome	Abnormal rib morphology, Missing ribs	ORPHA:3301
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Neurodegeneration	OMIM:615919
Cartilage-Hair Hypoplasia	Flaring of lower rib cage, Short thorax, Abnormal rib morphology, Pectus carinatum, Narrow chest,...	ORPHA:175
Cenani-Lenz Syndrome	Abnormal rib morphology	ORPHA:3258
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Acromelic Frontonasal Dysostosis	Encephalocele, Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of corpus c...	OMIM:603671
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Charge Syndrome	Mixed hearing impairment, Facial palsy, Lop ear, Aplasia of the semicircular canal, Sensorineural...	OMIM:214800
Xylt1-Cdg	Truncal obesity, Broad ribs, Short clavicles	ORPHA:370930
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cupped ribs	OMIM:608940
Cole-Carpenter Syndrome 2	Pectus excavatum, Thin ribs	OMIM:616294
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H...	ORPHA:90041
Nijmegen Breakage Syndrome	Short stature, Glioma, Hearing abnormality, Abnormality of neuronal migration, Macrotia	ORPHA:647
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Conjugated hyperbilirubinemia, Thoracic dysplasia, Short ribs, Narrow ches...	OMIM:208500
Familial Osteodysplasia, Anderson Type	Abnormal rib morphology, Hyperuricemia, Aplastic clavicle, Missing ribs	ORPHA:2769
Meier-Gorlin Syndrome 1	Absent sternal ossification, Small for gestational age, Lateral clavicle hook, Flat glenoid fossa...	OMIM:224690
Mucopolysaccharidosis, Type Iiib	Thickened ribs	OMIM:252920
Ellis-Van Creveld Syndrome	Short ribs, Narrow chest, Horizontal ribs, Pectus carinatum	OMIM:225500
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration	ORPHA:79244
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Xanthelasma, Steatorrhea...	ORPHA:275761
Vici Syndrome	Postnatal growth retardation, Sensorineural hearing impairment, Gray matter heterotopia, Low-set ...	OMIM:242840
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Failure to thrive, Neonatal hyper...	ORPHA:90674
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal thorax morphology, Narrow chest, Thin ribs	ORPHA:73230
Alagille Syndrome	Failure to thrive, Abnormal rib morphology	ORPHA:52
Pagod Syndrome	Encephalocele, Short stature, Spina bifida, Meningocele, Abnormality of neuronal migration	ORPHA:991
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Gray matter het...	OMIM:615287
Mucopolysaccharidosis, Type Iiia	Thickened ribs	OMIM:252900
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Neurodegeneration, Cerebral atrophy	OMIM:616878
Holzgreve Syndrome	Abnormal rib morphology	ORPHA:2167
Myotubular Myopathy With Abnormal Genital Development	Thin ribs	OMIM:300219
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Rib fusion, Short ribs, Missing ribs, Thin ribs	OMIM:271520
Mucopolysaccharidosis, Type Ii	Neurodegeneration	OMIM:309900
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs	ORPHA:163966
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Pectus excavatum, Prominent sternum, Thoracic hypoplasia, Coat hanger sign of ribs	ORPHA:254528
Mucopolysaccharidosis Type 6	Broad ribs, Failure to thrive	ORPHA:583
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Birth length less than 3rd percentile, Intrauterine growth retardation, Abnormality of neuronal m...	ORPHA:464311
Multiple Pterygium Syndrome, X-Linked	Thin ribs	OMIM:312150
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Short ribs, Narrow chest, Horizontal...	OMIM:263520
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Rib fusion, Obesity	ORPHA:261197
Congenital Myopathy 22B, Severe Fetal	Scapular winging, Thoracic scoliosis, Shoulder flexion contracture, Pectus excavatum, Thin ribs, ...	OMIM:620369
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Intrauterine growth retardation, Abnormal helix morphology, Hearing impa...	ORPHA:453499
Cutis Laxa, Autosomal Recessive, Type Iid	Gliosis	OMIM:617403
Basal Cell Nevus Syndrome 1	Down-sloping shoulders, Abnormal sternum morphology, Supernumerary ribs, Short ribs, Bifid ribs, ...	OMIM:109400
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Hypercalcemia, Abnormal rib morphology, Increased circulating corti...	ORPHA:249
Osteogenesis Imperfecta, Type Iii	Thin ribs	OMIM:259420
Mucopolysaccharidosis, Type Iva	Prominent sternum, Flaring of rib cage, Pectus carinatum	OMIM:253000
Poland Syndrome	Aplasia/Hypoplasia of the sternum, Missing ribs, Abnormal rib morphology, Pectus carinatum, Abnor...	ORPHA:2911
Norrie Disease	Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Sel...	ORPHA:649
Schwartz-Jampel Syndrome	Shoulder flexion contracture, Cachexia, Elevated circulating creatine kinase concentration, Pectu...	ORPHA:800
Cole-Carpenter Syndrome	Abnormal rib morphology	ORPHA:2050
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei...	ORPHA:740
Lethal Congenital Contracture Syndrome 10	Broad ribs, Thoracic scoliosis, Narrow chest	OMIM:617022
Autosomal Dominant Popliteal Pterygium Syndrome	Abnormal rib morphology, Nonketotic hyperglycinemia	ORPHA:1300
Pontine Tegmental Cap Dysplasia	Failure to thrive, Rib fusion	OMIM:614688
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Short thorax, Thoracic dysplasia, Short ribs, Narrow chest, Horizontal ribs	OMIM:269860
Hurler Syndrome	Neurodegeneration	OMIM:607014
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Br...	OMIM:304150
Mucopolysaccharidosis, Type Vii	Neurodegeneration	OMIM:253220
Diets-Jongmans Syndrome	Gliosis	OMIM:618846
Shprintzen-Goldberg Craniosynostosis Syndrome	Lateral clavicle hook, Pectus excavatum, Thin ribs, Pectus carinatum, Supernumerary ribs	OMIM:182212
Multiple Pterygium Syndrome, Lethal Type	Thin ribs	OMIM:253290
Mucopolysaccharidosis, Type Iiic	Thickened ribs	OMIM:252930
Mosaic Trisomy 8	Abnormal rib morphology, Narrow chest	ORPHA:96061
Kyphomelic Dysplasia	Lateral clavicle hook, Undulate ribs, Anterior rib cupping, Thoracic hypoplasia	OMIM:211350
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Short ribs, Horizontal ribs, Thoracic hypoplasia	OMIM:613091
Autosomal Recessive Multiple Pterygium Syndrome	Pectus excavatum, Abnormal sternum morphology, Failure to thrive, Rib fusion	ORPHA:2990
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Anomalous rib insertion to vertebrae, Posterior rib ...	OMIM:117650
Van Den Ende-Gupta Syndrome	Hypoplastic scapulae, Glenoid fossa hypoplasia, Lateral clavicle hook, Pectus excavatum, Thin rib...	OMIM:600920
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Gliosis, Simplified gyral pattern	OMIM:220111
Osteogenesis Imperfecta, Type Xviii	Thin ribs	OMIM:617952
Bardet-Biedl Syndrome 20	Hypercholesterolemia, Obesity	OMIM:619471
Sclerosteosis 1	Broad ribs, Sclerotic scapulae, Broad clavicles	OMIM:269500
Spondylometaphyseal Dysplasia, Sedaghatian Type	Abnormal rib morphology, Narrow chest, Abnormal scapula morphology	ORPHA:93317
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Pectus excavatum, Thin ribs	ORPHA:2463
Gabriele-De Vries Syndrome	Gliosis	ORPHA:506358
Immunodeficiency 47	Hypercholesterolemia, Failure to thrive, Decreased circulating copper concentration	OMIM:300972
Vacterl/Vater Association	Abnormal rib morphology	ORPHA:887
Kagami-Ogata Syndrome	Bell-shaped thorax, Coat hanger sign of ribs, Thoracic hypoplasia, Large for gestational age	ORPHA:254519
Otopalatodigital Syndrome Type 2	Failure to thrive, Abnormal rib morphology, Narrow chest	ORPHA:90652
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Sensorineural hearing impairment, Protruding ear, Growth delay, Gray matter heterotopia, Conducti...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Sensorineural hearing impairment, Protruding ear, Growth delay, Gray matter heterotopia, Conducti...	ORPHA:352665
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Abnormal rib morphology, Hypokalemia, Hyperaldosteronism, Hypophosph...	ORPHA:534
African Trypanosomiasis	Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnormal prolactin ...	ORPHA:3385
Monosomy 9Q22.3	Pectus excavatum, Abnormal rib morphology, Large for gestational age	ORPHA:77301
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia, Failure t...	ORPHA:79259
Fontaine Progeroid Syndrome	Posteriorly rotated ears, Short stature, Periventricular heterotopia, Hydrocephalus, Gray matter ...	OMIM:612289
Alagille Syndrome 1	Hypercholesterolemia, Failure to thrive, Abnormal rib morphology, Hypertriglyceridemia	OMIM:118450
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Large for gestational age, Pectus excavatum, Rib fusion, Narrow chest, Bifid ribs, Sprengel anomaly	OMIM:213980
Schinzel-Giedion Syndrome	Abnormality of the stapes, Aganglionic megacolon, Dysphagia, Abnormal cochlea morphology, Large e...	ORPHA:798
Hallermann-Streiff Syndrome	Small for gestational age, Pectus excavatum, Thin ribs, Abnormal rib cage morphology, Decreased n...	OMIM:234100
Mucopolysaccharidosis, Type Ivb	Prominent sternum, Flaring of rib cage	OMIM:253010
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Bell-shaped thorax, Short ribs, Narrow chest, Horizontal ribs	OMIM:616300
Hurler Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:93473
Nijmegen Breakage Syndrome	Neurodegeneration, Glioma	OMIM:251260
Chediak-Higashi Syndrome	Neurodegeneration	OMIM:214500
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Posteriorly rotated ears, Periventricular heterotopia, Partial agenesis ...	OMIM:615948
Doors Syndrome	Adrenal hyperplasia, Congenital hypothyroidism	ORPHA:79500
Pyknoachondrogenesis	Enlarged thorax, Short thorax, Short ribs, Horizontal ribs	ORPHA:3003
Eiken Syndrome	Broad ribs, Decreased body weight	OMIM:600002
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Broad ribs	ORPHA:85184
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Rib fusion, Large for gestational age	ORPHA:544488
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Lateral clavicle hook, Long thorax, Narrow chest, Short ribs, Horizontal ribs	OMIM:617925
Acrocapitofemoral Dysplasia	Pectus excavatum, Cupped ribs, Pectus carinatum, Short ribs, Narrow chest	OMIM:607778
Cantú Syndrome	Broad ribs, Narrow chest	ORPHA:1517
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Fatigable weakness of swallowing muscles, Abnormal rib morphology	ORPHA:581
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Cervical ribs, Thin ribs	OMIM:601812
Trisomy 18	Abnormal rib morphology, Cachexia	ORPHA:3380
Dextrocardia	Abnormal rib morphology	ORPHA:1666
Smith-Lemli-Opitz Syndrome	Posteriorly rotated ears, Short stature, Periventricular heterotopia, Hydrocephalus, Partial agen...	OMIM:270400
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Large for gestational age, Pectus exc...	ORPHA:96334
Arima Syndrome	Growth delay, Gray matter heterotopia, Occipital meningocele	OMIM:243910
Craniometadiaphyseal Dysplasia	Broad ribs	OMIM:269300
Gm1-Gangliosidosis, Type I	Thickened ribs	OMIM:230500
Multiple System Atrophy 1, Susceptibility To	Neurodegeneration	OMIM:146500
Radio-Renal Syndrome	Abnormal rib morphology	ORPHA:3015
Aicardi Syndrome	Rib fusion, Supernumerary ribs, Bifid ribs, Missing ribs	ORPHA:50
Osteogenesis Imperfecta	Multiple rib fractures, Small for gestational age, Pectus excavatum, Abnormal rib morphology, Pec...	ORPHA:666
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cupped ribs, Hypotriglyceridemia	ORPHA:85167
Osteopathia Striata With Cranial Sclerosis	Pectus excavatum, Straight clavicles, Thoracolumbar kyphosis, Broad ribs, Failure to thrive	OMIM:300373
Bent Bone Dysplasia Syndrome 2	Short sternum, Short ribs, Thin ribs	OMIM:620076
X-Linked Hypophosphatemia	Enlargement of the costochondral junction, Hypophosphatemia, Rachitic rosary, Beaded ribs	ORPHA:89936
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs	OMIM:252940
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Missing ribs, Narrow chest, Thin ribs	OMIM:200980
Ear-Patella-Short Stature Syndrome	Failure to thrive, Abnormal rib morphology, Aplastic clavicle	ORPHA:2554
Frontometaphyseal Dysplasia 1	Scapular winging, Coat hanger sign of ribs	OMIM:305620
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	11 pairs of ribs, Cupped ribs, Abnormal rib cage morphology, Flaring of rib cage, Decreased body ...	OMIM:271640
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Abnormal rib morphology, Narrow chest, Hypophosphatemia	ORPHA:667
Kbg Syndrome	Cervical ribs, Rib fusion, Thoracic kyphosis	OMIM:148050
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Thin ribs	OMIM:610915
Leukocyte Adhesion Deficiency	Peritonitis, Hyperinsulinemic hypoglycemia	ORPHA:2968
Campomelic Dysplasia	11 pairs of ribs, Thoracic scoliosis, Absent sternal ossification, Hypoplastic scapulae, Pectus c...	OMIM:114290
Costello Syndrome	Vestibular schwannoma, Posteriorly rotated ears, Low-set ears	OMIM:218040
Microphthalmia, Syndromic 3	Rib fusion, Supernumerary ribs, Missing ribs	OMIM:206900
Spondylometaphyseal Dysplasia, Sedaghatian Type	11 pairs of ribs, Cupped ribs, Horizontal inferior border of scapula, Short ribs, Narrow chest	OMIM:250220
Brachytelephalangic Chondrodysplasia Punctata	Abnormality of the costochondral junction	ORPHA:79345
Multiple Pterygium Syndrome, Escobar Variant	Long clavicles, Rib fusion, Down-sloping shoulders	OMIM:265000
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Hypoplasia of first ribs, Short sternum, Broad ribs, Failure to thrive	OMIM:269150
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Pectus excavatum, Thin ribs, Supernumerary ribs	OMIM:619127
Smith-Lemli-Opitz Syndrome	Abnormal rib morphology, Elevated circulating 7-dehydrocholesterol concentration	ORPHA:818
Mucopolysaccharidosis, Type Vi	Broad ribs, Prominent sternum, Pectus carinatum	OMIM:253200
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Neurodegeneration	OMIM:619475
Pallister-Hall Syndrome	Decreased circulating cortisol level, Rib fusion	OMIM:146510
Hereditary Acrokeratotic Poikiloderma	Abnormal rib morphology	ORPHA:2907
Alpha-Mannosidosis, Infantile Form	Pectus excavatum, Thickened ribs, Pectus carinatum	ORPHA:309282
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Myhre Syndrome	Abnormal rib morphology	ORPHA:2588
Stuve-Wiedemann Syndrome 1	Thin ribs	OMIM:601559
Cranioectodermal Dysplasia 2	Pectus excavatum, Short ribs, Hyperbilirubinemia, Narrow chest, Horizontal ribs	OMIM:613610
Neurodegeneration With Brain Iron Accumulation 1	Cerebral degeneration, Neurodegeneration, Global brain atrophy	OMIM:234200
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Pectus excavatum, Hypocalcemia, Failure to th...	ORPHA:2785
Lenz-Majewski Hyperostotic Dwarfism	Broad ribs, Failure to thrive, Broad clavicles	OMIM:151050
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Broad ribs, Obesity	OMIM:301066
Robinow Syndrome, Autosomal Recessive 1	Pectus excavatum, Rib fusion, Missing ribs	OMIM:268310
Autosomal Recessive Robinow Syndrome	Pectus excavatum, Rib fusion, Pectus carinatum	ORPHA:1507
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Hypocalcemic seizures	OMIM:612301
Fryns Syndrome	Broad ribs, Thin ribs, Thoracic hypoplasia, Large for gestational age	OMIM:229850
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Abnormal thorax morphology, Failure to thrive, Rib fusion	ORPHA:280
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Thoracolumbar kyphosis, Thoracic hypoplasia, Horizontal ribs	OMIM:618019
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Failure to thrive, Small for gestational age, Hypertriglyceridemia	OMIM:606721
Weill-Marchesani Syndrome 1	Broad ribs	OMIM:277600
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short ribs, Narrow chest, Horizontal ribs, Short clavicles	OMIM:617088
Simpson-Golabi-Behmel Syndrome	Pectus excavatum, Abnormal rib morphology	ORPHA:373
Monosomy 9P	Abnormal rib morphology	ORPHA:261112
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Pectus excavatum, Undulate ribs, Short clavicles	OMIM:609945
Camptodactyly Syndrome, Guadalajara Type 3	Abnormal rib morphology	ORPHA:488434
Robinow Syndrome	Rib fusion, Small for gestational age, Missing ribs	ORPHA:97360
Zttk Syndrome	Cervical ribs, Failure to thrive, Rib fusion	OMIM:617140
Ulbright-Hodes Syndrome	Short sternum, Abnormal rib morphology, Short ribs, Thin ribs	ORPHA:3404
Weill-Marchesani Syndrome 2	Broad ribs	OMIM:608328
Myhre Syndrome	Broad ribs, Small for gestational age, Obesity	OMIM:139210
1P36 Deletion Syndrome	11 pairs of ribs, Rib fusion, Obesity, Bifid ribs, Failure to thrive	ORPHA:1606
Restrictive Dermopathy	Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Thin clavicles, Thin ribs, Increase...	ORPHA:1662
Kindler Epidermolysis Bullosa	Abnormal rib morphology	ORPHA:2908
Cog1-Cdg	Failure to thrive, Rib fusion, Posterior rib gap	ORPHA:263508
Proteus Syndrome	Gray matter heterotopia, Macrotia, Low-set ears, Narrow internal auditory canal	ORPHA:744
Orofaciodigital Syndrome Type 14	Low-set, posteriorly rotated ears, Partial agenesis of the corpus callosum, Periventricular heter...	ORPHA:434179
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Thin ribs	OMIM:225400
Osteogenesis Imperfecta, Type Vii	Pectus excavatum, Multiple rib fractures, Narrow chest	OMIM:610682
Genitopatellar Syndrome	Periventricular heterotopia, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Hearing impai...	OMIM:606170
Vater/Vacterl Association	Abnormal sternum morphology, Failure to thrive, Abnormal rib morphology	OMIM:192350
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Small for gestational age, Thin ribs, Narrow chest, Failure to thrive	OMIM:264090
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Small for gestational age, Rib fusion, Abnormal sternal ossificat...	OMIM:194190
Fetal Akinesia Deformation Sequence 1	Small for gestational age, Thoracic hypoplasia, Thin ribs	OMIM:208150
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Failure to thrive, Long clavicles, Thin ribs	ORPHA:83617
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Barrel-shaped chest, Broad clavicles, Congenital pseudoarthrosis of the clavicle, Pectus carinatu...	OMIM:276820
Coccidioidomycosis	Broad ribs	ORPHA:228123
Femoral-Facial Syndrome	Sprengel anomaly, Rib fusion, Missing ribs	OMIM:134780
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Rib fusion, Obesity, Bifid ribs	OMIM:607872
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs	ORPHA:217085
Craniotubular Dysplasia, Ikegawa Type	Broad ribs	OMIM:619727
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs	ORPHA:217093
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Cervical ribs, Rib fusion, Failure to thrive in infancy	ORPHA:500150
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Posteriorly rotated ears, Short stature, Uplifted earlobe, Periventricular heterotopia, Sensorine...	ORPHA:261537
Mowat-Wilson Syndrome	Posteriorly rotated ears, Short stature, Uplifted earlobe, Periventricular heterotopia, Sensorine...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Posteriorly rotated ears, Short stature, Uplifted earlobe, Periventricular heterotopia, Sensorine...	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

MicroCT E14.5-E15.5

Echo

X-ray

X-ray

X-ray

Adult LacZ

Embryo LacZ

MicroCT E18.5

Immunophenotyping

Auditory Brain Stem Response

Immunophenotyping

Human diseases caused by Ntrk2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data