Gene Summary

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

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
preweaning lethality, incomplete penetrance Ntrk2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased prepulse inhibition Ntrk2tm1b(EUCOMM)Wtsi HET Early adult 6.92×10-06
abnormal rib morphology Ntrk2tm1b(EUCOMM)Wtsi HET Early adult 3.26×10-05
increased lean body mass Ntrk2tm1b(EUCOMM)Wtsi HET Early adult 1.97×10-06
increased circulating HDL cholesterol level Ntrk2tm1b(EUCOMM)Wtsi HET Early adult 4.98×10-05

Download data as:  TSV  XLS

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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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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
Difficulty walking, Ataxia, Unsteady gait, Optic atrophy, Attention deficit hyperactivity disorder 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
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Major Affective Disorder 1
Depression OMIM:125480
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Steppage gait, Vestibular Schwannoma OMIM:613641
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
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
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Agyri... OMIM:615411
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Acute Zonal Occult Outer Retinopathy
Visual loss, Central scotoma, Visual field defect, Retinal pigment epithelial mottling, Vitritis,... ORPHA:284454
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Lipoatrophy, Polycystic... ORPHA:280356
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... OMIM:604317
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Sensorineural hearing impairment ORPHA:3465
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Gray matter heterotopia, Cortical dysplasia, Agyria, Microcephaly, Subcortical band h... OMIM:615412
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatom... ORPHA:79084
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Cervical Rib
Cervical ribs OMIM:117900
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Increased adipose tissue, Type II diabetes mellitus, Childhood-onset truncal ob... ORPHA:71529
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencephaly, Focal whi... OMIM:607341
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Eunuchoid habit... OMIM:308750
Geniospasm 1
Anxiety OMIM:190100
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology, Agyria, Secondary... OMIM:607432
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Severe sensorineural hearing impairme... OMIM:604213
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Eu... OMIM:308700
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... ORPHA:101029
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Postnatal growth retardation, Agyria, Agenesis of corpus cal... OMIM:300067
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Abnormal cerebral morphology, Abnormal neuron morphology, Simplified gyral... ORPHA:329228
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... OMIM:610600
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... OMIM:600348
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Microcephaly, Cerebral atrophy, Postnatal growth retardation OMIM:614023
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Stargardt Disease
Nyctalopia, Reduced visual acuity, Central scotoma, Retinal pigment epithelial mottling, Retinal ... ORPHA:827
Arnold-Chiari Malformation Type I
Adult onset sensorineural hearing impairment, Vertigo, Gait ataxia, Cranial nerve compression, Pr... ORPHA:268882
Progressive Non-Fluent Aphasia
Astrocytosis, Temporal cortical atrophy, Abnormal cerebral white matter morphology, Abnormal lowe... ORPHA:100070
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, M... OMIM:611603
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Mismatch Repair Cancer Syndrome 4
Astrocytoma, Glioblastoma multiforme, Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Glucocorticoid Deficiency 5
Abnormal response to ACTH stimulation test, Decreased circulating cortisol level OMIM:617825
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Cortical dysplasia, Micro... OMIM:618709
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Insulin-resista... OMIM:604367
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular heterotop... OMIM:608097
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... ORPHA:556037
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Hypoplasia of the corpus callosum, Hearing impairment, Cortical dysplasi... OMIM:617201
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells OMIM:600333
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Enlarged vestibular aqueduct, Sensorineural hearing impairmen... ORPHA:705
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis, Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis,... OMIM:105550
Developmental And Epileptic Encephalopathy 14
Cerebral cortical atrophy, Gliosis, Neuronal loss in central nervous system OMIM:614959
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... ORPHA:556030
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Cerebral atrophy, Gliosis OMIM:618369
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Microcephaly, Short stature OMIM:618572
Hemimegalencephaly
Pachygyria, Gliosis, Gray matter heterotopia, Polymicrogyria, Abnormal neuron morphology ORPHA:99802
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy OMIM:232700
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Gliosis, Degeneration of anterior horn cells OMIM:604484
Cherubism
Macular scar, Lower eyelid retraction, Reduced visual acuity, Constriction of peripheral visual f... OMIM:118400
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus call... OMIM:615191
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neoplasm of the adrenal gland, Pituitary prolact... ORPHA:97279
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Po... ORPHA:435651
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Incr... ORPHA:435660
Huntington Disease
Cerebellar atrophy, Gliosis, Neuronal loss in central nervous system OMIM:143100
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Microcephaly, Cerebral calcification, Abnormality of neuronal mi... ORPHA:1980
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Dysgyr... ORPHA:352682
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:66628
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Microcephaly OMIM:618185
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Chorea, Benign Hereditary
Anxiety OMIM:118700
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Abnormality of the pinna, Ataxia, Hyperactivity OMIM:300983
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration, Astrocytosis OMIM:172500
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
Superficial Siderosis
Dysdiadochokinesis, Vertigo, Progressive gait ataxia, Limb ataxia, Ataxia, Unsteady gait, Abnorma... ORPHA:247245
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... ORPHA:300573
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:179494
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Polycystic ovaries, Ty... ORPHA:3085
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gonadotropin ... OMIM:614841
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Reduced intraabdominal adipos... ORPHA:363400
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Atypical scarring of skin, Type II diabetes mellitu... ORPHA:791
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Periventricular ribbonlike heterotopia, Hypoplasia of the corpus callosum, Thick cerebral cortex,... OMIM:618677
Neuronopathy, Distal Hereditary Motor, Type Viib
Facial palsy, Abnormal lower motor neuron morphology OMIM:607641
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Exocrine pancreatic insufficiency... ORPHA:552
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Decreased serum leptin, Obesity OMIM:614962
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Gliosis, Neuronal loss in central nervous system OMIM:604218
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Cerebral... ORPHA:204
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Sensorineural hearing impairment OMIM:603641
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Failur... OMIM:602579
Lipodystrophy, Familial Partial, Type 2
Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose tissue loss, Increased... OMIM:151660
Meningioma
Enlarged pituitary gland, Papilledema, Pituitary hypothyroidism, Obesity, Neoplasm of the posteri... ORPHA:2495
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Diff... OMIM:614946
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Hyperinsuline... ORPHA:263455
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Overweight, Decreased circulating follicle ... ORPHA:226307
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancrea... ORPHA:2849
Congenital Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Adipose tissue loss, Lipodyst... ORPHA:528
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Pick Disease Of Brain
Gliosis, Neuronal loss in central nervous system OMIM:172700
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Reduced visual acuity, Peripapillary atrophy, Abnormal flash visual evoked ... OMIM:618195
Maternal Hyperthermia-Induced Birth Defects
Intrauterine growth retardation, Microcephaly, Short stature, Abnormality of neuronal migration ORPHA:2216
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Increased ... OMIM:615830
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Optic Atrophy 11
Facial diplegia, Macrotia, Ataxia, Hearing impairment, Dysmetria, Hyperactivity, Optic atrophy OMIM:617302
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Gliosis, Neuronal loss in central nervous system OMIM:221820
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegaly, Small for gestation... ORPHA:79237
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Basal ganglia cysts, Atrophy/Degeneration involving the caud... ORPHA:225154
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Lethargy, Hyperactivity OMIM:274270
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue ... OMIM:246200
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm, Prim... OMIM:615723
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Abnormal cerebral white matter morphology, Frontotemporal cerebral atrophy ORPHA:275864
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Abnormality of the ribs ORPHA:3268
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Growth delay, Short stature, Hypoplasia of the frontal lobes... ORPHA:2512
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Immunodeficiency 8
Hyperactivity OMIM:615401
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Cerebral cortical atrophy OMIM:600795
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Morphological abnormality of the vestibule of the inner ear... OMIM:611584
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Dysphagia OMIM:611637
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Gliosis, Global brain atrophy, Abnormal lower m... ORPHA:275872
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Weight loss, Type II diabetes mellitus, Insulin resistance, Abnorm... ORPHA:2298
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Vestibular dysfunction, Ab... ORPHA:52368
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Cerebral atrophy, Caudate atrophy, Gliosis OMIM:221770
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LD... OMIM:615703
Primary Pigmented Nodular Adrenocortical Disease
Slender build, Diabetes mellitus, Hypogonadism, Adrenal hyperplasia, Pigmented micronodular adren... ORPHA:189439
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Pachygyria, Gliosis, Abnormal astrocyte morphology ORPHA:168486
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity ORPHA:436151
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Neurodegeneration OMIM:615889
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration OMIM:610951
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Mandibuloacral Dysplasia
Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insulin resistance, Increase... ORPHA:2457
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Failure to th... OMIM:605814
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Low-set ears, Neo... OMIM:611890
Brain Small Vessel Disease 2
Porencephalic cyst, Growth delay, Subcortical heterotopia, Polymicrogyria, Schizencephaly OMIM:614483
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Diaminopentanuria
Neurodegeneration OMIM:222350
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Ataxia, Absent brainst... ORPHA:1215
Symmetrical Thalamic Calcifications
Microcephaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1314
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Truncal obesity, Diabetes mellitus, Failure to thrive, Macronodular adrenal hyperplasia ORPHA:189427
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency, Retinal dystrophy OMIM:617175
Distal Monosomy 10Q
Cochlear malformation, Abnormality of the outer ear, Morphological abnormality of the vestibule o... ORPHA:96148
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Gliosis OMIM:612936
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp... OMIM:612885
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dysphagia, Abnormal upper motor neuron morphology, Abnormal cerebellum morpholog... OMIM:607694
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Insulin-resista... ORPHA:79086
3-Hydroxyisobutyric Aciduria
Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification OMIM:236795
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Pontocerebellar Hypoplasia, Type 4
Gliosis OMIM:225753
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Obe... OMIM:615633
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis, Megalencephaly OMIM:611087
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Glucose intolerance, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Undulate ribs, Missing ribs ORPHA:1801
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Corpus callosum atrophy, Gliosis, Global brain atrophy OMIM:236792
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Cerebral atrophy, Gliosis OMIM:615095
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Dysphagia ORPHA:247604
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Gliosis, Neuronal loss in central nervous system OMIM:607136
Optic Atrophy 8
Visual loss, Prolonged somatosensory evoked potentials, Central scotoma, Abnormality of pattern v... OMIM:616648
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis, Neurodegeneration, Cerebral atrophy, Cerebellar atrophy, Neuronal loss in central nervou... OMIM:256600
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Meningocele, Polymicrogyria, Focal co... ORPHA:101030
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Familial Hyperaldosteronism Type I
Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Hepatic steat... OMIM:608594
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Abnormality of neuronal migration ORPHA:945
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Breast hypoplasi... ORPHA:785
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Macrotia, Hypoplasia of the corpus callosum, Polymicrogy... OMIM:616212
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Abnormality of neuronal migration... ORPHA:89844
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Benign Schwannoma
Abnormal cranial nerve morphology, Vertigo, Abnormality of peripheral nervous system electrophysi... ORPHA:252164
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Oculocutaneous Albinism Type 1
White eyebrow, Reduced visual acuity, Abnormal morphology of the choroidal vasculature, Amblyopia... ORPHA:352731
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Gliosis, Neuronal loss in central nervous system OMIM:614498
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Ataxia OMIM:614306
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Hepatic steat... OMIM:269700
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Diffuse spongiform leukoencephalopathy, Focal T2 hyperintense basal ganglia lesion ORPHA:282166
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231169
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Long eyelashes, Amblyopia, Ptosis, Downslanted palpebral fissures, Abnormality of visual evoked p... OMIM:617523
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Abnormality of retinal pigmentation, Tremor, Nyctalopia, Ataxia, Dysmetria, V... ORPHA:96
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Macroorchidism, Hypog... ORPHA:90790
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Flexion contracture, Increased adipose tissue aroun... OMIM:248370
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Palmar neurofibromas, Bilateral vestibular Schwannoma, Paraspinal neurofibromas OMIM:162260
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Flexion c... OMIM:613327
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... ORPHA:314478
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Elevated hepatic transaminase, Hypergonadotropic hypogonad... OMIM:203800
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Hyp... ORPHA:90796
Dysplastic Cortical Hyperostosis
Microcephaly, Short stature, Abnormality of neuronal migration ORPHA:2204
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Gray matter heterotopia, Posteriorly rotated ears, Sensorineural hearing impairment... OMIM:615219
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Neurodegeneration, Gliosis, Neuronal loss in central nervous system OMIM:616239
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Minimal subcutaneous fat, Increased intraabdominal fat, Insulin resistanc... ORPHA:280365
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Spinocerebellar Ataxia, Autosomal Recessive 2
Gliosis OMIM:213200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormal periventricular white matter morphology, Short stature, Abnormality of neuro... OMIM:608840
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Increased circulating ... ORPHA:90791
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Mental Retardation, Autosomal Dominant 13
Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Abnormality of neuronal migration OMIM:614563
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Abnormality of neuronal migration, Intrauterine growth retarda... ORPHA:2772
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Peripheral demyelination, Peripheral hypomyelination, Abnor... OMIM:609136
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Neonatal hyp... ORPHA:71212
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Friedreich Ataxia
Decreased amplitude of sensory action potentials, Decreased sensory nerve conduction velocity, Im... OMIM:229300
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia gliosis, Gliosis, Cerebral atrophy, Polymicrogyria, Cerebellar gliosis ORPHA:79243
Cerebrooculofacioskeletal Syndrome 1
Gliosis OMIM:214150
Canavan Disease
Abnormality of retinal pigmentation, Blindness, Visual impairment, Optic atrophy, Abnormality of ... ORPHA:141
Congenital Muscular Dystrophy Without Intellectual Disability
Microcephaly, Abnormal cerebral white matter morphology, Pachygyria, Gray matter heterotopia ORPHA:370980
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Retinal dystrophy, Decreased circulating gonadotropin concentratio... OMIM:215470
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hearing impairment, Optic atrophy, Hyperactivity ORPHA:369939
Intellectual Developmental Disorder, X-Linked 12
Gliosis, Abnormal cerebral white matter morphology, Abnormality of neuronal migration, Sensorineu... OMIM:300957
Thoracolaryngopelvic Dysplasia
Slender build, Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions OMIM:187760
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Macrotia OMIM:301013
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Positive Romberg sign, Decreased motor nerve conduction velocity, Central scotoma, Color vision d... OMIM:601152
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Perrault Syndrome 4
Increased circulating gonadotropin level, Oligomenorrhea, Hypoplasia of the uterus, Primary ameno... OMIM:615300
Peroxisomal Acyl-Coa Oxidase Deficiency
Myopia, Epicanthus, Respiratory insufficiency, Optic atrophy, Abnormality of visual evoked potent... ORPHA:2971
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Lissencephaly, X-Linked, 2
Pachygyria, Gliosis, Lissencephaly OMIM:300215
Amyotrophic Lateral Sclerosis 21
Dysphagia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper ... OMIM:606070
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Gliosis, Degeneration of anterior horn cells OMIM:118301
Endosteal Hyperostosis, Worth Type
Abnormality of the ribs, Clavicular sclerosis ORPHA:2790
Craniodiaphyseal Dysplasia
Abnormality of the ribs ORPHA:1513
Neurofibromatosis, Type Ii
Vertigo, Bilateral vestibular Schwannoma, Ataxia, Occasional neurofibromas, Hearing impairment, U... OMIM:101000
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Menorrhagia, Abnormalit... ORPHA:2795
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Narrow chest, Abnormal sternum morphology, Abnormalit... ORPHA:474
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Narrow chest ORPHA:1354
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal upper motor neuron morphology, Dysphagia, Abnormal lower motor neuron morphology, Amyotr... OMIM:205100
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Abnormal upper motor neuron morphology, Orthostatic hypotension OMIM:263570
Cushing Disease
Lipodystrophy, Truncal obesity, Failure to thrive, Diabetes mellitus, Adrenal hyperplasia, Premat... ORPHA:96253
Desmosterolosis
Pachygyria, Abnormality of earlobe, Hydrocephalus, Absent septum pellucidum, Large earlobe, Low-s... ORPHA:35107
Walker-Warburg Syndrome
Pachygyria, Hydrocephalus, Absent septum pellucidum, Abnormality of neuronal migration, Low-set e... ORPHA:899
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Pectus excavatum, Hypoplastic distal segments of scapulae OMIM:602196
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, At... ORPHA:107
Leukoencephalopathy With Dystonia And Motor Neuropathy
Head tremor, Abnormal motor neuron morphology, Intention tremor OMIM:613724
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Pontocerebellar Hypoplasia, Type 2A
Cerebral cortical atrophy, Gliosis OMIM:277470
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Dysphagia, Abnormal lower motor neuron morphology, Sensorineural hearing impairment, High... ORPHA:2590
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Inguinal hernia, Congenital adrenal hyperplasia, Increased serum testosterone l... ORPHA:96181
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency OMIM:201400
Huntington Disease-Like 1
Cerebral cortical atrophy, Cerebellar atrophy, Gliosis ORPHA:157941
Temple Syndrome
Hypercholesterolemia, Overweight, Hypertriglyceridemia, Truncal obesity, Small for gestational age OMIM:616222
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration OMIM:300894
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Truncal obesity, Failure to thrive ORPHA:181393
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Synotia, Abnormal cranial nerve morphology, Narrow internal au... ORPHA:990
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Dysphagia OMIM:606353
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... ORPHA:786
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears, Hyperactivity OMIM:609425
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Gliosis, Neurodegeneration OMIM:618321
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing impairment, Ante... OMIM:610706
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Short stature, Postnatal growth retardation, Decreased response to growth ... OMIM:615925
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Cerebral cortical atrophy, Protruding ear, Short stature, Intr... ORPHA:2518
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia, Hypoplasia of the corpus ca... ORPHA:255138
Leigh Syndrome
Hepatocellular necrosis, Gliosis OMIM:256000
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Chorioretinal coloboma, Retinal coloboma, Iris coloboma, Severely reduced visual acuity, Moderate... ORPHA:2921
Galloway-Mowat Syndrome
Pachygyria, Hypoplasia of the ear cartilage, Macrotia, Aqueductal stenosis, Abnormality of neuron... ORPHA:2065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Su... OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Anencephaly, Cortical dysplasia, A... OMIM:615287
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit... ORPHA:91348
Infantile Neuroaxonal Dystrophy
Dystonia, Diffuse axonal swelling, Gait disturbance, Abnormal autonomic nervous system physiology... ORPHA:35069
Leukoencephalopathy With Vanishing White Matter
Gliosis OMIM:603896
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Increased circulating corticosterone level, Elevated ... ORPHA:95699
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration OMIM:617672
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating renin level, Decreased circulati... ORPHA:320
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Dysphagia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Dysphagia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Mental Retardation, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Macrotia OMIM:615541
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Precocious ... OMIM:202010
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Hypopla... ORPHA:247768
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Cranial nerve compression ORPHA:52430
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Gray matter heterotopia, Severe short stature, Neonatal death,... OMIM:187600
Spinocerebellar Ataxia, X-Linked 3
Cerebellar atrophy, Gliosis, Neuronal loss in central nervous system OMIM:301790
Mosaic Trisomy 14
Abnormality of the ribs, Failure to thrive, Narrow chest ORPHA:1703
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the ribs, Short thorax, Missing ribs, Rib fusion OMIM:613686
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Chorioretinal atrophy, Color vision defect, Visual impairmen... ORPHA:364055
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration ORPHA:438134
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Ptosis, Visual impairment, Decreased nerve conduction velocity, Abnormality of visual evo... ORPHA:1933
Thanatophoric Dysplasia Type 2