Gene Summary

Name:
neurotrophic tyrosine kinase, receptor, type 2
Synonyms:
trkB,  Tkrb,  C030027L06Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased lean body mass Ntrk2tm1b(EUCOMM)Wtsi HET Early adult 2.21×10-06
increased circulating HDL cholesterol level Ntrk2tm1b(EUCOMM)Wtsi HET Early adult 4.98×10-05
preweaning lethality, incomplete penetrance Ntrk2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal rib morphology Ntrk2tm1b(EUCOMM)Wtsi HET Early adult 3.23×10-05
decreased prepulse inhibition Ntrk2tm1b(EUCOMM)Wtsi HET Early adult 6.92×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

6 Images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

MicroCT E18.5

Embryo reconstruction

1 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Auditory Brain Stem Response

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

3 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental And Epileptic Encephalopathy 58
Optic atrophy OMIM:617830
Non-Specific Early-Onset Epileptic Encephalopathy
Downslanted palpebral fissures, Optic atrophy, Retinal degeneration, Ataxia, Ptosis, Tremor, Abno... ORPHA:442835
Obesity, Hyperphagia, And Developmental Delay
Polyphagia OMIM:613886
Infantile Spasms Syndrome
ORPHA:3451

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Major Affective Disorder 2
Bipolar affective disorder OMIM:309200
Lithium Transport
Bipolar affective disorder OMIM:152420
Major Depressive Disorder
Depression OMIM:608516
Panic Disorder 1
Anxiety OMIM:167870
Major Affective Disorder 1
Depression OMIM:125480
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... OMIM:619755
Delayed Puberty, Self-Limited
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... OMIM:619613
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... OMIM:601369
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:614842
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:614839
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Schwannomatosis 1
Peripheral schwannoma, Vestibular schwannoma OMIM:162091
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... OMIM:262600
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:616030
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... ORPHA:71526
Acute Zonal Occult Outer Retinopathy
Blurred vision, Photopsia, Abnormal retinal vascular morphology, Rod-cone dystrophy, Hemianopia, ... ORPHA:284454
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... ORPHA:280356
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Deafness, Autosomal Dominant 80
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... OMIM:619274
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, H... ORPHA:79084
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Cervical Rib
Cervical ribs OMIM:117900
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Geniospasm 1
Anxiety OMIM:190100
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Type II diabetes mel... ORPHA:71529
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria, Intraut... OMIM:615411
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Pituitary Hormone Deficiency, Combined, 6
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... OMIM:613986
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Postnata... OMIM:300067
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia OMIM:202150
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum, Severe sensorine... OMIM:604213
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating renin level, Increased circulat... OMIM:610600
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment, Optic atrophy OMIM:258700
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... ORPHA:324575
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Stargardt Disease
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... ORPHA:827
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Type II diabetes mellit... OMIM:604367
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:616950
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test OMIM:617825
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Pyknoachondrogenesis
Stillbirth OMIM:265880
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity, Elevated hepatic transaminase ORPHA:329249
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... ORPHA:276580
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Astrocytoma, Agenesis of corpus callosum, Glioblastoma multiforme OMIM:619101
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... ORPHA:556037
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Adult onset sensorineural hearing impairment, Abnormalit... ORPHA:268882
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... ORPHA:276575
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicr... ORPHA:101029
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619761
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Abnorm... ORPHA:705
Lissencephaly 3
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Periventricular laminar heterotopia, ... OMIM:611603
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis OMIM:300857
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Decreased serum leptin, Polycystic ovaries, Decreased adip... ORPHA:79085
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Neuronal loss in central nervous system, Abnormal lower motor neuron morphology, Amyotrophic late... OMIM:105550
Early-Onset Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... ORPHA:556030
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:108420
Cherubism
Marcus Gunn pupil, Lower eyelid retraction, Macular scar, Constriction of peripheral visual field... OMIM:118400
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hepatic steatosis, Decreased serum leptin, Lipodystrophy, Decreased adipon... OMIM:615238
Hemimegalencephaly
Gray matter heterotopia, Gliosis, Pachygyria, Abnormal neuron morphology, Polymicrogyria ORPHA:99802
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Decreased serum leptin, Polycysti... ORPHA:435651
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Delayed... OMIM:616033
Insulinoma
Hyperinsulinemia, Abnormality of the pancreatic islet cells, Nonketotic hypoglycemia, Neuroendocr... ORPHA:97279
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Decreased circulating ... OMIM:228300
Developmental And Epileptic Encephalopathy 71
Simplified gyral pattern, Gliosis OMIM:618328
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Huntington Disease
Neuronal loss in central nervous system, Cerebellar atrophy, Gliosis OMIM:143100
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Developmental And Epileptic Encephalopathy 14
Neuronal loss in central nervous system, Cerebral cortical atrophy, Gliosis OMIM:614959
Deafness, X-Linked 2
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... OMIM:304400
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia OMIM:103900
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... ORPHA:435660
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Gliosis, Degeneration of anterior horn cells OMIM:604484
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Glucocorticoid Deficiency 2
Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa... ORPHA:99886
Leptin Deficiency Or Dysfunction
Decreased testicular size, Decreased serum leptin, Obesity, Hypogonadism OMIM:614962
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Diffuse pancr... ORPHA:276556
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Agyria, Pachygyria ORPHA:1084
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Keloids, Decreased testicular size, Type II diabetes mellitus, Polycystic ovari... ORPHA:3085
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... ORPHA:552
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose ... ORPHA:363400
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Hypogonadism, Type II diabetes mellitus, Atypical s... ORPHA:791
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy OMIM:604218
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Small for gestational age, Hypoglyce... OMIM:262190
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
Band Heterotopia
Gray matter heterotopia, Lateral ventricle dilatation, Hydrocephalus, Subcortical band heterotopi... OMIM:600348
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... OMIM:614841
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... ORPHA:293964
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Unilateral vestibular schwannoma OMIM:603641
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia OMIM:608097
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance ORPHA:369873
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Increased facial adipose tissue, Type II diabetes mellitus, Reduced subcutaneou... OMIM:151660
Pendred Syndrome
Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:274600
Branchiootic Syndrome 1
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... OMIM:602588
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Adrenocorticotropi... ORPHA:90793
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Primary hyperco... OMIM:615830
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... ORPHA:1227
Perlman Syndrome
Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Fe... ORPHA:2849
Mpi-Cdg
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,... ORPHA:79319
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,... OMIM:300614
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... ORPHA:263455
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Neuronal loss in central nervous system, Global brain atrophy, Corpus callosum atrophy, Gliosis OMIM:221820
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Cirrhosis, Insulin resistance, Adipose tissue lo... ORPHA:528
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
Paucity of anterior horn motor neurons, Facial diplegia, Dystonia, Low-set ears, Neonatal death, ... OMIM:611890
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Glucose intolerance, Bre... OMIM:615363
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Optic atrophy, Abnormal pinna morphology OMIM:300983
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis OMIM:172700
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Dysgyria, Occipital encephalocele ORPHA:352682
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Pectus carinatum ORPHA:3268
Microcephaly 10, Primary, Autosomal Recessive
Simplified gyral pattern, Cerebellar atrophy, Gliosis, Cerebral atrophy OMIM:615095
Meningioma
Enlarged pituitary gland, Impotence, Decreased circulating cortisol level, Secondary growth hormo... ORPHA:2495
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Galactokinase Deficiency
Hyperinsulinemia, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Hypoglycemia,... ORPHA:79237
Donohue Syndrome
Hyperinsulinemia, Precocious puberty, Hepatic fibrosis, Adipose tissue loss, Severe failure to th... OMIM:246200
Autoimmune Polyendocrinopathy Type 1
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... ORPHA:3453
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia, Hypoglycemia OMIM:201910
Leber Congenital Amaurosis 9
Optic atrophy, Ultra-low vision, Reduced visual acuity, Retinal dots, Retinal pigment epithelial ... OMIM:608553
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Dysphagia OMIM:611637
Branchiootorenal Syndrome 1
Conductive hearing impairment, Sensorineural hearing impairment, Incomplete partition of the coch... OMIM:113650
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Abnormal lower motor neuron morphology, Gliosis, Degeneration of the latera... ORPHA:275872
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... ORPHA:226307
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Decreased compound muscle action potential amplitude, Abnormal upper moto... OMIM:606353
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Decreased body weight, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... ORPHA:2298
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi... OMIM:303110
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Thoracic Dysostosis, Isolated
Bell-shaped thorax, Pectus excavatum, Short ribs OMIM:187750
Spermatogenic Failure 14
Elevated circulating follicle stimulating hormone level, Abnormal circulating testosterone concen... OMIM:615842
Morbid Obesity And Spermatogenic Failure
Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hyperc... OMIM:615703
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Aplasia of the semicircular canal, Hypoplasia of the semicircul... OMIM:611584
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy OMIM:619470
Superficial Siderosis
Abnormality of the brachial nerve plexus, Vertigo, Abnormality of the vestibulocochlear nerve, Bi... ORPHA:247245
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Intrauterine growth retardation ORPHA:1980
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha... OMIM:604317
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Estrogen Resistance Syndrome
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... ORPHA:785
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:610951
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... ORPHA:90646
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Mandibuloacral Dysplasia
Hyperinsulinemia, Contractures of the large joints, Insulin resistance, Increased adipose tissue ... ORPHA:2457
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Pachygyria ORPHA:168486
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Type II diab... ORPHA:189439
Diaminopentanuria
Neurodegeneration OMIM:222350
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Short stature, Intrauterine growth retardation ORPHA:2216
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Cerebral atrophy, Gliosis, Caudate atrophy OMIM:221770
Autosomal Dominant Optic Atrophy Plus Syndrome
Progressive visual loss, Temporal optic disc pallor, Abnormal retinal nerve fiber layer morpholog... ORPHA:1215
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy OMIM:274270
Gonadoblastoma
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Adrenal hyperp... ORPHA:404
Lissencephaly 5
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Subcortical band heterotopia, Occi... OMIM:615191
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Acute pan... ORPHA:79086
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis ORPHA:204
Subependymal Nodular Heterotopia
Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Partia... ORPHA:101030
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Mohr-Tranebjaerg Syndrome
Cerebral visual impairment, Generalized dystonia, Aspiration pneumonia, Abnormality of somatosens... ORPHA:52368
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Short stature, Growth delay, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... ORPHA:99429
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Horizontal ribs, Narrow chest, Lateral clavicle hook, Short ribs OMIM:617405
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy, Abnormal auditory evoked potentia... OMIM:616648
Usher Syndrome Type 3
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology ORPHA:231183
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Spinocerebellar Ataxia 17
Neuronal loss in central nervous system, Cerebellar atrophy, Diffuse cerebral atrophy, Gliosis OMIM:607136
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Abnormality of retinal pigmentation, Ataxia, Dysmetria, Tremor, Dystonia, Vis... ORPHA:96
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Bell-shaped thorax, Thoracic dysplasia, Lateral clavicle hook, Narrow chest, Obe... OMIM:615633
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Cerebral cortical atrophy, Gliosis OMIM:618369
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Dysphagia ORPHA:247604
Pontocerebellar Hypoplasia, Type 4
Gliosis OMIM:225753
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:608594
Kyphomelic Dysplasia
Short thorax, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Narrow chest, Undulate ribs ORPHA:1801
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Cirrhosis, Hepatic failure, Hyperinsulinemic hypoglycemia, Failure to thrive, H... OMIM:602579
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... ORPHA:403
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... ORPHA:189427
Distal Monosomy 10Q
Cochlear malformation, Morphological abnormality of the vestibule of the inner ear, Abnormality o... ORPHA:96148
Spinocerebellar Ataxia, Autosomal Recessive 2
Cerebellar vermis atrophy, Gliosis OMIM:213200
Adrenocortical Carcinoma
Increased serum estradiol, Hyperaldosteronism, Increased circulating cortisol level, Adrenocortic... ORPHA:1501
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis ORPHA:225154
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... ORPHA:300373
Usher Syndrome Type 1
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology ORPHA:231169
Oculocutaneous Albinism Type 1
Amblyopia, Depigmented fundus, Reduced visual acuity, White eyelashes, Optic nerve misrouting, Wh... ORPHA:352731
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Abnormal flash visual evoked potentials, Optic disc pallor, Macular degene... OMIM:618195
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Global brain atrophy, Corpus callosum atrophy, Gliosis OMIM:236792
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Flexion contracture, Decreased adipose tissue around neck, Loss of facial adipo... OMIM:608612
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration ORPHA:945
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... OMIM:610489
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Increased circulating ACTH level, Decreased circulating cortisol level, Jaundice,... ORPHA:90790
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Lissencephaly,... ORPHA:300573
Neurodegeneration With Brain Iron Accumulation 2A
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Cerebellar atrophy, Neurodege... OMIM:256600
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... OMIM:619868
Lissencephaly 6 With Microcephaly
Macrotia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephal... OMIM:616212
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:269700
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Palmar neurofibromas, Bilateral vestibular schwannoma, Paraspinal neurofibromas OMIM:162260
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia gliosis, Cerebellar gliosis, Gliosis, Cerebral atrophy, Polymicrogyria ORPHA:79243
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Short stature, Simplified gyral pattern, Partial agenesis of the cor... OMIM:616171
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Alstrom Syndrome
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... OMIM:203800
Cerebrooculofacioskeletal Syndrome 1
Brain atrophy, Diffuse cerebral atrophy, Gliosis, Cerebellar atrophy, Neurodegeneration OMIM:214150
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Basal ganglia gliosis, Brain atrophy, Neuronal loss in central nervous system, Gliosis, Cerebral ... OMIM:604377
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary gonadal insufficiency, Decreased serum estradiol, Abnormal circulating corticosterone lev... ORPHA:90796
Ovarian Fibrothecoma
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... ORPHA:314478
Mepan Syndrome
Chorea, Optic atrophy, Limb dystonia, Hemidystonia, Ataxia, Axial dystonia, Dystonia, Craniofacia... ORPHA:508093
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... ORPHA:90791
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad... OMIM:610475
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, 4-layered lissencephaly, Microlissencephaly, Low-set ears, Int... ORPHA:89844
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Sensorineural hearing impairment, Simplified gyral pattern, Communicatin... OMIM:615219
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, P... ORPHA:280365
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hyperaldosteronism, Adrenal hyperplasia OMIM:613677
Combined Oxidative Phosphorylation Deficiency 14
Cerebral cortical atrophy, Basal ganglia gliosis, Diffuse cerebral atrophy, Gliosis, Cerebral atr... OMIM:614946
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Flexion contracture, Increased facial adipose tissue, Impaired glucose toleranc... OMIM:248370
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Elevated hepatic transaminase, Hyperinsulinemic hypog... ORPHA:71212
Canavan Disease
Blindness, Optic atrophy, Abnormality of retinal pigmentation, Visual impairment, Abnormality of ... ORPHA:141
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Head tremor, Abnormal motor neuron morphology, Intention tremor OMIM:613724
Friedreich Ataxia
Gait ataxia, Optic atrophy, Visual field defect, Decreased amplitude of sensory action potentials... OMIM:229300
Lissencephaly, X-Linked, 2
Pachygyria, Gliosis, Lissencephaly OMIM:300215
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Bell-shaped thorax, Irregular chondrocostal junctions, Short ribs, Slender build OMIM:187760
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Chorioretinal dystrophy, Retinal dystrophy, Decreased circulating ... OMIM:215470
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperpl... ORPHA:96181
Combined Oxidative Phosphorylation Deficiency 24
Neuronal loss in central nervous system, Cerebellar atrophy, Neurodegeneration, Gliosis OMIM:616239
Inherited Creutzfeldt-Jakob Disease
Astrocytosis ORPHA:282166
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Hearing impairment, Optic atrophy ORPHA:369939
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Downslanted palpebral fissures, Amblyopia, Abnormal auditory evoked potentials, Long eyelashes, P... OMIM:617523
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Flexion contracture, Elevated hepatic transaminase, Insulin resistance, Hepatic... OMIM:613327
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Dexamethasone-suppressible primary hyperal... ORPHA:251274
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Slow decrease in visual acuity, Optic atrophy, Decreased motor nerve conduction velocity, Distal ... OMIM:601152
Peroxisomal Acyl-Coa Oxidase Deficiency
Respiratory insufficiency, Optic atrophy, Epicanthus, Myopia, Abnormality of visual evoked potent... ORPHA:2971
Leber Congenital Amaurosis
Hearing impairment, Encephalocele, Abnormality of neuronal migration ORPHA:65
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Brain Small Vessel Disease 2
Subcortical heterotopia, Growth delay, Polymicrogyria OMIM:614483
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal rib morphology ORPHA:1354
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Sensorineural hearing impairment, Abnormal lower motor neuron morphology, Tremor, Dysphagia, High... ORPHA:2590
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Disinhibition, Amyotrophic lateral sclerosis, Dysphagia OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Disinhibition, Amyotrophic lateral sclerosis, Dysphagia OMIM:616437
Endosteal Hyperostosis, Worth Type
Abnormal rib morphology, Clavicular sclerosis ORPHA:2790
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum OMIM:602196
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Facial palsy, Enlarged cochlea... ORPHA:107
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Gliosis OMIM:612936
Pelizaeus-Merzbacher Disease
Respiratory insufficiency, Optic atrophy, Choreoathetosis, Abnormality of visual evoked potential... ORPHA:702
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Moderately reduced visual acuity, Iris coloboma, Chorioretinal coloboma, Severely reduced visual ... ORPHA:2921
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia OMIM:201400
Jeune Syndrome
Abnormal sternum morphology, Short thorax, Narrow chest, Abnormal clavicle morphology, Abnormal r... ORPHA:474
Severe Early-Childhood-Onset Retinal Dystrophy
Blurred vision, Attenuation of retinal blood vessels, Color vision defect, Macular coloboma, Peri... ORPHA:364055
Benign Schwannoma
Hearing abnormality, Facial palsy, Scleral schwannoma, Vertigo, Schwannoma, Abnormality of the tw... ORPHA:252164
Growth Hormone Insensitivity Syndrome
Failure to thrive, Truncal obesity, Hypercholesterolemia ORPHA:181393
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased circulating ACTH level, Increased ... OMIM:615962
Leukoencephalopathy With Vanishing White Matter 1
Gliosis OMIM:603896
Huntington Disease-Like 1
Cerebellar atrophy, Cerebral cortical atrophy, Gliosis ORPHA:157941
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Pallor of dorsal col... OMIM:602433
Ovarian Dysgenesis 3
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... OMIM:614324
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Abnormal upper motor neuron morphology, Neurogenic bladder OMIM:263570
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Neuronal loss in central nervous system, Gliosis OMIM:614498
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration, Short stature ORPHA:2204
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... ORPHA:2795
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... ORPHA:786
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Amyotrophic lateral ... OMIM:606070
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Disproportionate short-limb short stature, Abnormality of neur... ORPHA:2772
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to human chorionic gonadotrophin stimulation test, Decreased circulating dehydr... ORPHA:95699
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... ORPHA:50815
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc... ORPHA:35107
Leigh Syndrome
Hepatocellular necrosis, Gliosis OMIM:256000
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Gliosis OMIM:300957
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Short stature, Abnormality of neuronal migration, Pachygyria OMIM:608840
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal... ORPHA:231580
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Synotia, Narrow internal auditory canal, Abnormal cranial nerv... ORPHA:990
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Protrud... ORPHA:899
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
Mosaic Trisomy 14
Abnormal rib morphology, Narrow chest, Failure to thrive ORPHA:1703
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration ORPHA:438134
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Astrocytosis ORPHA:100070
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Cranial nerve compression ORPHA:52430
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Ptosis, Decreased nerve conduction velocity, Visual impairment, Abnormality of visual evo... ORPHA:1933
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormality of the ovary, Hypoplasia of the uterus, Primary a... ORPHA:247768
Thanatophoric Dysplasia Type 2
Encephalocele, Abnormality of neuronal migration, Short stature, Hydrocephalus, Holoprosencephaly... ORPHA:93274
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Microtia, Agyria, Hydrocephalus,... OMIM:614643
46,Xx Ovotesticular Disorder Of Sex Development
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level, Abnormality of circul... ORPHA:320
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal hyperplasia, A... ORPHA:369929
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Apert Syndrome
Morphological abnormality of the semicircular canal, Conductive hearing impairment, Sensorineural... ORPHA:87
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Rabson-Mendenhall Syndrome
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Fasting hypoglycemia, Imp... ORPHA:769
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Corpus callosum atrophy, Gliosis OMIM:169500
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Orbital encephalocele OMIM:164180
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616828
Progressive Supranuclear Palsy
Neuronal loss in central nervous system, Cerebral cortical atrophy, Gliosis ORPHA:683
Neonatal Adrenoleukodystrophy
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Abnormality of neuronal migr... ORPHA:44
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:98754
Hypophosphatasia
Narrow chest, Failure to thrive in infancy, Hypercalcemia, Abnormal rib morphology ORPHA:436
Grant Syndrome
Abnormal rib morphology, Narrow chest, Sprengel anomaly, Abnormality of the glenoid fossa ORPHA:2097
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis OMIM:608033
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Cerebral cortical atrophy, Neurodegeneration, Cerebral atrophy OMIM:617672
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Abnormal lower motor neuron morphology, Impulsivity, Tremor, Oromandibular dystoni... OMIM:614298
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Neuronal loss in central nervous system, Central nervous system degeneration, Gliosis, Cerebral a... OMIM:602613
Autosomal Dominant Spondylocostal Dysostosis
Abnormal rib morphology, Short thorax, Posterior rib fusion, Missing ribs ORPHA:1797
Chiari Malformation Type Ii
Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Agen... OMIM:207950
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Machado-Joseph Disease Type 3
Dilated fourth ventricle, Degeneration of anterior horn cells, Neurogenic bladder, Substantia nig... ORPHA:276244
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Neurodegeneration OMIM:615889
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebral visual impairment, Optic atrophy, Laryngotracheomalacia, Dystonia, Myopia, Hypermetropia... OMIM:616875
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Neurodegeneration OMIM:612319
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Periventricular heterotopia, Short stature OMIM:618273
Neurofibromatosis, Type Ii
Bilateral vestibular schwannoma, Occasional neurofibromas, Vertigo, Unilateral vestibular schwann... OMIM:101000
Edinburgh Malformation Syndrome
Low-set ears, Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Optic Atrophy 11
Hyperactivity, Macrotia, Optic atrophy, Optic nerve hypoplasia, Facial diplegia, Decreased sensor... OMIM:617302
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neuronal loss in central nervous system, Cerebral cortical atrophy, Gliosis OMIM:607485
Leprechaunism
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Reduced subc... ORPHA:508
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pachygyria, Astrocytosis, Lissencephaly ORPHA:258
Infantile Neuroaxonal Dystrophy
Hyperactivity, Abnormality of peripheral nerve conduction, Optic atrophy, Abnormal autonomic nerv... ORPHA:35069
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus, Disproportionate short-limb short stature, Intrauterine g... ORPHA:2655
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:98793
Pontocerebellar Hypoplasia, Type 2A
Cerebral cortical atrophy, Gliosis OMIM:277470
Galloway-Mowat Syndrome
Macrotia, Aqueductal stenosis, Abnormality of neuronal migration, Short stature, Hypoplasia of th... ORPHA:2065
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:177904
Primary Lateral Sclerosis
Cervical spinal cord atrophy, Abnormal lower motor neuron morphology, Atrophy of the spinal cord,... ORPHA:35689
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Hearing impairment, Optic atrophy ORPHA:95433
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of