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Gene: Socs7 MGI:2651588

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Gene Summary

Name:
suppressor of cytokine signaling 7
Synonyms:
2310063P06Rik,  Nap4

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye size Socs7tm1a(EUCOMM)Wtsi HOM Early adult 5.59×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 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 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

8 Images

View images
Legacy Phenotype Associated Images
Socs7tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Socs7tm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Socs7tm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Socs7tm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Socs7tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI

View all 78 images

Socs7tm1a(EUCOMM)Wtsi
eye, eyelids fail to open, HOM, Female, WTSI
Socs7tm1a(EUCOMM)Wtsi
eye, eyelids fail to open, HOM, Female, WTSI
Socs7tm1a(EUCOMM)Wtsi
eye, cataracts, corneal opacity, HOM, Female, WTSI
Socs7tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Socs7tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Socs7tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Socs7 mutations

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

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

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

The table below shows human diseases predicted to be associated to Socs7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Short Stature Due To Partial Ghr Deficiency
Short stature, Delayed puberty, Hypoglycemia, Growth delay ORPHA:314802
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Intrauterine growth retardation, Hypoglycemia OMIM:223500
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Pituitary Hormone Deficiency, Combined, 4
Short stature, Severe postnatal growth retardation, Hypoglycemia, Pituitary dwarfism OMIM:262700
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance OMIM:311100
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Short Stature Due To Ghsr Deficiency
Short stature, Delayed puberty, Hypoglycemia, Growth delay ORPHA:314811
RCAD (renal cysts and diabetes)
Diabetes mellitus DECIPHER:47
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Hypoketotic hypoglycemia, Neonatal hypoglycemia, Nonketotic hypoglycemia ORPHA:293964
Preaxial Hallucal Polydactyly
Diabetes mellitus OMIM:601759
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Microcephaly, Lethargy, Gait disturbance, Hydrocephalus ORPHA:26
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Gait disturbance, Failure to thrive, Anorexia ORPHA:79283
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia ORPHA:366
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Growth delay, Hypoglycemia OMIM:262400
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Cranial Nerves, Recurrent Paresis Of
Diabetes mellitus OMIM:218200
Glycine Encephalopathy 1
Agenesis of corpus callosum, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Agenesis of corpus callosum, Microcephaly, Lethargy, Hyperactivity OMIM:274270
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Glycogen Storage Disease Vi
Postnatal growth retardation, Hypoglycemia OMIM:232700
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Hypoglycorrhachia, Secondary microcephaly, Lethargy, Ataxia, Choreoathetosis OMIM:606777
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Microcephaly, Attention deficit hyperactivity disorder, Hydrocephalus, Ataxia, ... OMIM:618709
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus OMIM:166990
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Increased CSF lactate, Postnatal growth retardation, Hypoglycemia OMIM:616111
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Central Neurocytoma
Depression, Abnormal lateral ventricle morphology, Lethargy, Hydrocephalus, Ataxia ORPHA:73256
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive, Ataxia ORPHA:622
Developmental And Epileptic Encephalopathy 92
Secondary microcephaly, Difficulty walking, Inability to walk, Lethargy, Ataxia OMIM:617829
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
Combined Oxidative Phosphorylation Deficiency 2
Agenesis of corpus callosum, Mild fetal ventriculomegaly, Lethargy, Patent ductus arteriosus, Sma... OMIM:610498
Dihydrolipoamide Dehydrogenase Deficiency
Increased CSF leucine concentration, Hypertrophic cardiomyopathy, Increased CSF valine concentrat... OMIM:246900
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Depression, Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Str... ORPHA:136
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance OMIM:147630
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy, Increased CSF lactate OMIM:613710
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage, Hepatic vascular malformations OMIM:116860
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Gait disturbance, Cerebral hemorrhage, Dysphagia ORPHA:324708
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Pineocytoma
Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia ORPHA:251912
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Atypical Teratoid Rhabdoid Tumor
Apathy, Hydrocephalus, Ataxia ORPHA:99966
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Cardiomyopathy, Hepatic steatosis, Microcephaly, Lethargy ORPHA:26792
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276556
Developmental And Epileptic Encephalopathy 40
Lethargy, Small for gestational age, Choreoathetosis OMIM:617065
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Cardiomyopathy, Splenomegaly, Stroke, Lethargy, Pancreatitis, Anorexia, Hepato... ORPHA:79312
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Central Diabetes Insipidus
Depression, Polydipsia, Failure to thrive, Lethargy, Weight loss, Anorexia ORPHA:178029
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Episodic ataxia, Increased CSF lactate, Agenesis of corpus callosum, Microcepha... OMIM:312170
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Lethargy, Ataxia, Bradykinesia OMIM:618683
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Elbow flexion contracture, Microcephaly, Aggressive behavior, Hyperactivity, Hy... OMIM:619470
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:604213
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Hao-Fountain Syndrome
Aggressive behavior, Large fontanelles, Cryptorchidism, Delayed cranial suture closure OMIM:616863
1Q21.1 Microduplication Syndrome
Failure to thrive, Tetralogy of Fallot, Cryptorchidism, Attention deficit hyperactivity disorder,... ORPHA:250994
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Growth delay, Fasting hypoglycemia ORPHA:171706
Gaba-Transaminase Deficiency
Lethargy, Agenesis of corpus callosum OMIM:613163
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Failure to thrive, Tetralogy of Fallot, Dysmetria, Agenesis of corpus callosum, Lethargy, Ataxia,... OMIM:250620
Mitochondrial Complex I Deficiency, Nuclear Type 5
Failure to thrive, Increased CSF lactate, Microcephaly, Lethargy, Progressive microcephaly, Ataxi... OMIM:618226
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Orbital craniosynostosis, Dandy-Walker malformation ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276580
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss, Polydipsia ORPHA:30925
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Hypertrophic cardiomyopathy, Lethargy, Hepatomegaly, Dysphagia OMIM:613561
Early Myoclonic Encephalopathy
Lethargy, Dysphagia ORPHA:1935
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Lethargy, Ataxia OMIM:618224
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Short stature, Growth delay OMIM:620211
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Decreased CSF homovanillic acid concentration, Hypoglycemia OMIM:610090
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Increased body weight, Lethargy, Tachycardia, Agitation ORPHA:276608
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Lethargy, Arrhyth... OMIM:602390
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Lethargy, Pulmonary arterial hypertension, Hepatomegaly, Wide anter... OMIM:619064
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Palpitations, Polyphagia, Lethargy, Syncope, Hepatomegaly, Tachycardia... ORPHA:324575
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypoglycorrhachia, Lethargy, Progressive microcephaly, Ataxia, Choreoathetosis ORPHA:71277
Masa Syndrome
Shuffling gait, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Hydrocephalus OMIM:303350
Cyclic Vomiting Syndrome
Ataxia, Cardiomyopathy, Microcephaly, Lethargy, Attention deficit hyperactivity disorder, Anorexia OMIM:500007
Meningococcal Meningitis
Increased CSF protein concentration, Hypotension, Hypoglycorrhachia, Shock, Anorexia, Petechiae, ... ORPHA:33475
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Neuromuscular dy... ORPHA:449285
Dural Sinus Malformation
Ataxia, Myelopathy, Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid he... ORPHA:97339
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Cerebral ischemia, Stroke, Microcephaly, Lethargy, Ataxia, Hepatomegaly, Motor... ORPHA:927
Mitochondrial Complex I Deficiency, Nuclear Type 6
Ventriculomegaly, Failure to thrive, Hypertrophic cardiomyopathy, Lethargy, Ataxia OMIM:618228
Idiopathic Congenital Hypothyroidism
Large posterior fontanelle, Delayed cranial suture closure, Lethargy, Bradycardia, Prolonged neon... ORPHA:95717
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Stroke, Paroxysmal atrial tachycardia, Lethargy, Anorexia, Cardiac arrest ORPHA:49827
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Joint swelling, Intr... ORPHA:98878
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Short stature, Postnatal growth retardation, Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Bradycardia, Petechiae, Microcephaly, Lethargy, C... OMIM:617397
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Severe Canavan Disease
Inability to walk, Lethargy, Oral-pharyngeal dysphagia ORPHA:314911
Primary Angiitis Of The Central Nervous System
Abnormal CSF protein concentration, Cerebral vasculitis, Transient ischemic attack, Stroke, Ataxi... ORPHA:140989
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy, Congenital hepatic fibrosis, Arthropathy, Lethargy, Abnormality of endocr... ORPHA:79230
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Hyperglycorrhachia, Congestive heart failure, Hypopituitarism, Increased CSF lactate, ... ORPHA:90065
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Pontocerebellar Hypoplasia, Type 6
Failure to thrive, Increased CSF lactate, Microcephaly, Lethargy, Progressive microcephaly OMIM:611523
Hypertriglyceridemia 1
Glucose intolerance OMIM:145750
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Lethargy, Failure to thrive ORPHA:28
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Developmental And Epileptic Encephalopathy 36
Abnormal bleeding, Self-mutilation, Microcephaly, Hydrocephalus, Hepatomegaly OMIM:300884
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Hepatic steatosis, Lethargy, Pancreatitis, Anorexia OMIM:619386
Lethal Infantile Mitochondrial Myopathy
Lethargy, Cardiomyopathy ORPHA:254857
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Cardiomyopathy, Microcephaly, Lethargy, Abnormal cardiac ventricular function,... ORPHA:2394
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Edinburgh Malformation Syndrome
Hydrocephalus, Jaundice, Failure to thrive OMIM:129850
Brain Small Vessel Disease 2
Ventriculomegaly, Intracranial hemorrhage OMIM:614483
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Temple Syndrome
Recurrent hypoglycemia, Postnatal growth retardation, Type II diabetes mellitus, Hydrocephalus, S... ORPHA:254516
Mehmo Syndrome
Birth length less than 3rd percentile, Ventriculomegaly, Delayed puberty, Hypoglycemia OMIM:300148
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Kleeblattschaedel
Craniosynostosis, Elbow ankylosis, Hydrocephalus OMIM:148800
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Frontal encephalocele, Craniosynostosis ORPHA:1528
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recurrent cerebra... OMIM:605714
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Autosomal Recessive Dopa-Responsive Dystonia
Gait ataxia, Lethargy, Ataxia, Bradykinesia, Decreased CSF homovanillic acid concentration ORPHA:101150
Insulinoma
Abnormality of the pancreatic islet cells, Pituitary prolactin cell adenoma, Palpitations, Increa... ORPHA:97279
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased CSF lactate, Lethargy, Ataxia OMIM:618225
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Hypoglycemia ORPHA:231147
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Acute hepatitis, Dysmetria, Hepatomegaly, Lethargy, Spastic gait, Truncal atax... OMIM:238970
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Increased circulating prolactin concentration, Prolonged neonatal jaundice, Lethargy,... ORPHA:99832
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
1P31P32 Microdeletion Syndrome
Ventriculomegaly, Moyamoya phenomenon, Intraventricular hemorrhage, Attention deficit hyperactivi... ORPHA:401986
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Fried Syndrome
Aggressive behavior, Gait disturbance, Hydrocephalus ORPHA:85335
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Failure to thrive, Increased circulating prolactin concentration, Goiter, Large poste... ORPHA:90674
Leukoencephalopathy With Vanishing White Matter 1
Lethargy, Cessation of head growth, Gait disturbance, Unsteady gait OMIM:603896
Evans Syndrome
Epistaxis, Bruising susceptibility, Petechiae, Lethargy, Syncope, Jaundice ORPHA:1959
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Arrhythmia, Lethargy, Ataxia, Hepatomegaly,... ORPHA:99745
Biemond Syndrome Type 2
Short stature, Delayed puberty, Hydrocephalus ORPHA:141333
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Attention deficit hyperactivity disorder, Aortic aneurysm, Hydrocephalus, Frontal... ORPHA:261102
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Intrauterine growth retardation, Ventriculomegaly, Hypoglycemia ORPHA:48431
Hyperphenylalaninemia, Bh4-Deficient, B
Increased CSF phenylalanine concentration, Lethargy, Dysphagia, Choreoathetosis OMIM:233910
Glycogen Storage Disease Ixb
Short stature, Growth delay, Hypoglycemia OMIM:261750
Familial Thyroid Dyshormonogenesis
Large posterior fontanelle, Delayed cranial suture closure, Goiter, Lethargy, Bradycardia, Prolon... ORPHA:95716
Glutaric Acidemia Type 3
Lethargy, Failure to thrive, Impulsivity ORPHA:35706
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Decreased response to growth hormone stimulation tes... ORPHA:280679
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Stroke, Lethargy, Failure to thrive, Ataxia OMIM:237300
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Alexander Disease
Increased CSF protein concentration, Dysmetria, Apathy, Hydrocephalus, Ataxia OMIM:203450
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Craniosynostosis 6
Lateral ventricle dilatation, Right unilambdoid synostosis, Delayed cranial suture closure, Bicor... OMIM:616602
Classic Galactosemia
Depression, Gait imbalance, Cryptorchidism, Lethargy, Gait disturbance, Attention deficit hyperac... ORPHA:79239
Glycogen Storage Disease Ixc
Hypoglycemia, Postnatal growth retardation, Growth delay, Fasting hypoglycemia OMIM:613027
Carnitine Deficiency, Systemic Primary
Failure to thrive, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Decreas... OMIM:212140
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Failure to thrive, Abnormality of the liver, Microcephaly, Lethargy, Hydrocepha... ORPHA:2169
Ogden Syndrome
Shuffling gait, Cardiogenic shock, Ventriculomegaly, Delayed cranial suture closure, Cryptorchidi... ORPHA:276432
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Lethargy, Dilated cardiomyopathy, Gait imbalance OMIM:618120
Non-Acquired Isolated Growth Hormone Deficiency
Short stature, Neonatal hypoglycemia, Delayed puberty, Growth delay ORPHA:631
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy, Gait disturbance, Failure to thrive OMIM:236270
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Medulloblastoma
Delayed cranial suture closure, Dysmetria, Lethargy, Cerebellar hemorrhage, Hydrocephalus, Ataxia... ORPHA:616
Gómez-López-Hernández Syndrome
Short stature, Hydrocephalus ORPHA:1532
Hydranencephaly
Atrophic pituitary gland, Ventriculomegaly, Dilatation of the ventricular cavity, Abnormal intern... ORPHA:2177
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia ORPHA:364
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Addictive alcohol use, Cerebral hemorrh... ORPHA:31825
Thyroid Dyshormonogenesis 1
Lethargy, Goiter OMIM:274400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Lethargy, Pancreatitis, Ataxia, Hepatomegaly, Choreoathetosis ORPHA:27
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Subdu... OMIM:618291
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Cryptorchidism, Unilambdoid synostosis, Agenesis of corpus callosum, Hydrocepha... OMIM:618577
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Ventriculomegaly, Hydrocephalus, Hypoglycemia OMIM:616355
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hepatosplenomegaly, Failure to thrive, Anorexia OMIM:611590
Propionic Acidemia
Failure to thrive, Cardiomyopathy, Lethargy, Cerebellar hemorrhage, Pancreatitis, Hepatomegaly OMIM:606054
Sneddon Syndrome
Arterial stenosis, Hypertension, Intracranial hemorrhage ORPHA:820
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Portal hypertension, Joint swelling, Splenomegaly, Arth... ORPHA:465508
Familial Hyperaldosteronism Type I
Epistaxis, Polydipsia, Adrenal hyperplasia, Intracranial hemorrhage, Hypertension ORPHA:403
Pyruvate Dehydrogenase Deficiency
Ventriculomegaly, Microcephaly, Lethargy, Gait disturbance, Ataxia, Choreoathetosis ORPHA:765
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Dislocated radial head, Microcephaly, Hydrocephalus, Partial agenesis of the co... OMIM:304100
Crigler-Najjar Syndrome
Jaundice, Lethargy, Abnormality of the liver ORPHA:205
Alexander Disease Type I
Failure to thrive, Cachexia, Hydrocephalus, Ataxia, Dysphagia ORPHA:363717
Idiopathic Intracranial Hypertension
Lethargy, Depression, Obesity ORPHA:238624
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Failure to thrive, Increased CSF lactate, Increased CSF lysine concentration, M... OMIM:616034
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum OMIM:619302
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Joint swelling, Cerebral hemorrhage ORPHA:98880
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Failure to thrive, Microcephaly, Lethargy, Gait disturbance, Jaundice OMIM:250940
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Self-mutilation, Polyphagia, Aggressive behavior, Hydrocephalus OMIM:616521
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Microcephaly, Lethargy OMIM:610006
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Failure to thrive, Increased CSF lactate, Loss of ambulation, Lethargy, Gait disturbance, Ataxia OMIM:615838
Leukoencephalopathy With Calcifications And Cysts
Stroke, Gait disturbance, Ataxia, Cerebral hemorrhage ORPHA:542310
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Mitochondrial Complex I Deficiency, Nuclear Type 19
Ventriculomegaly, Hypoglycemia OMIM:618241
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Lethargy, Ventricular tachycardia, Hepatomegaly, Macrovesicular hepatic s... OMIM:600649
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Failure to thrive, Decreased response to growth hormone stimulation test, Crypt... OMIM:609757
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Cryptorchidism, Lethargy, Coarctation of aorta, Pulmonary arterial hypertensio... OMIM:614857
Citrullinemia Type I
Lethargy, Ankle clonus, Failure to thrive, Ataxia ORPHA:247525
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Short stature, Postnatal growth retardation, Hypoglycemia ORPHA:231137
Hypercalcemia, Infantile, 1
Lethargy, Weight loss, Failure to thrive OMIM:143880
Histidinuria-Renal Tubular Defect Syndrome
Ventriculomegaly, Hypoglycemia ORPHA:2158
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Lethargy, Pancreatitis, Choreoathetosis ORPHA:289916
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Increased CSF lactate, Intrauterine growth retardation, Neonatal death, Growth delay OMIM:245400
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Lethargy, Arrhythmia, Cachexia, Ataxia, Hepatomegaly ORPHA:42
Citrullinemia Type Ii
Hepatic fibrosis, Decreased body mass index, Abnormal eating behavior, Hepatic steatosis, Aggress... ORPHA:247585
Isovaleric Acidemia
Lethargy, Cerebellar hemorrhage OMIM:243500
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Cardiomyopathy, Lethargy, Cerebellar hemorrhage, Pancreatitis, Hepatomegaly OMIM:251000
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Short stature, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia ORPHA:2089
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Polydipsia, Adrenal hyperplasia, Pulmonary arter... ORPHA:369929
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature coronary artery... OMIM:300845
Dihydropyrimidinase Deficiency
Failure to thrive, Microcephaly, Lethargy, Hyperactivity, Elevated CSF dihydrouracil concentration OMIM:222748
Holocarboxylase Synthetase Deficiency
Anorexia, Lethargy, Weight loss, Ataxia ORPHA:79242
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Failure to thrive, Stroke, Microcephaly, Lethargy, Gait disturbance, Hydrocepha... ORPHA:395
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Agenesis of corpus callosum OMIM:619301
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Lethargy, Ataxia, Hepatomegaly, Increased CS... OMIM:614299
2P21 Microdeletion Syndrome
Growth delay, Hypoglycemia ORPHA:163693
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Large posterior fontanelle, Delayed cranial suture closure, Hypopitu... ORPHA:226307
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Pancreatic islet-cell hyperplasia, Increased hepatic glycogen content,... ORPHA:263455
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Glycogen Storage Disease Iii
Short stature, Hypoglycemia OMIM:232400
Familial Hyperaldosteronism Type Iii
Epistaxis, Polydipsia, Adrenal hyperplasia, Prolonged QT interval, Intracranial hemorrhage, Hyper... ORPHA:251274
Hypophosphatasia, Infantile
Failure to thrive, Anorexia, Craniosynostosis, Intracranial hemorrhage, Widely patent fontanelles... OMIM:241500
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Hypoglycemia OMIM:619048
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Short stature, Delayed puberty, Hypoglycemia, Growth delay ORPHA:369
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Hypopituitari... ORPHA:91350
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Hemochromatosis, Neonatal
Intrauterine growth retardation, Hypoglycemia OMIM:231100
Diarrhea 13
Recurrent hypoglycemia OMIM:620357
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Microcephaly, Arrhythmia, Lethargy, Ataxia, ... ORPHA:254913
Autosomal Recessive Cutis Laxa Type 2A
Congenital hip dislocation, Abnormal bleeding, Persistent open anterior fontanelle, Delayed crani... ORPHA:357058
Silver-Russell Syndrome 2
Short stature, Intrauterine growth retardation, Neonatal hypoglycemia OMIM:618905
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cholestasis, Hepatosplenomegaly, Large fontanelles, Mitral regurgitation, Cryptorchidism, Agenesi... OMIM:614866
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Depression, Decreased response to growth hormone stimulation test, Bipol... OMIM:601853
Autoerythrocyte Sensitization Syndrome
Self-injurious behavior, Epistaxis, Gastrointestinal hemorrhage, Depression, Bruising susceptibil... ORPHA:324636
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Pyridoxine-Dependent Epilepsy
Ventriculomegaly, Hypoglycemia ORPHA:3006
Riboflavin Deficiency
Lethargy OMIM:615026
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Joint dislocation, Subdural hemorrhage, Subependymal nodules, Ataxia, Retinal h... ORPHA:25
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Propionic Acidemia
Hypoglycemia ORPHA:35
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges... ORPHA:137675
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones ORPHA:2773
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Postnatal growth retardation, Intrauterine growth retardation, ... ORPHA:73272
Multiple Mitochondrial Dysfunctions Syndrome 1
Failure to thrive, Increased CSF lactate, Lethargy, Pulmonary arterial hypertension, Increased CS... OMIM:605711
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Houge-Janssens Syndrome 2
Ventriculomegaly, Inability to walk, Gait ataxia, Agenesis of corpus callosum, Microcephaly, Hydr... OMIM:616362
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Abnormal temper tantrums, Ventriculomegaly, Failure to thrive, Decreased t... ORPHA:398079
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Ventriculomegaly, Hypertrophic cardiomyopathy, Increased CSF lactate, Lethargy, Hepatomegaly, Car... OMIM:604377
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Microcephaly, Wormian bones ORPHA:2787
N-Acetylglutamate Synthase Deficiency
Aggressive behavior, Lethargy, Failure to thrive, Anorexia OMIM:237310
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Lateral ventricle dilatation, Bicoronal synostosis, Agenesis of corp... OMIM:618736
Non-24-Hour Sleep-Wake Syndrome
Depression, Abnormal pineal melatonin secretion ORPHA:73267
Aromatic L-Amino Acid Decarboxylase Deficiency
Short stature, Decreased CSF 5-hydroxyindolacetic acid concentration, Decreased CSF homovanillic ... ORPHA:35708
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ventriculomegaly, Dilated cardiomyopathy, Elbow flexion contracture, Knee flexion contracture, Ag... OMIM:608836
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Splenomegaly, Weight loss, Hepatomegaly, Intracranial hemorrhage, Prolon... ORPHA:3226
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul... OMIM:201475
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Hepatic sinusoidal dilatation, Lateral ventricle dilata... OMIM:620371
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Genu valgum, Depression, Patellar subluxation, Hydrocephalus OMIM:248000
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Lethargy, Arrhythmia, Hepatomegaly, Sudden cardiac death ORPHA:156
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Ebola Hemorrhagic Fever
Acute pancreatitis, Gastrointestinal hemorrhage, Abnormal bleeding, Hepatitis, Lethargy, Melena, ... ORPHA:319218
Sneddon Syndrome
Stroke, Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
Glycogen Storage Disease Ixa1
Growth delay, Hypoglycemia OMIM:306000
Congenital Toxoplasmosis
Ventriculomegaly, Failure to thrive in infancy, Microcephaly, Hydrocephalus, Hepatomegaly, Jaundice ORPHA:858
Developmental And Epileptic Encephalopathy 41
Inability to walk, Microcephaly, Lethargy OMIM:617105
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Intrauterine growth retardation, Ventriculomegaly, Hydrocephalus OMIM:610333
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Failure to thriv... ORPHA:746
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time, Lethargy, Jaundice, Cardiomyopathy OMIM:616483
Polyendocrine-Polyneuropathy Syndrome
Short stature, Postnatal growth retardation, Type I diabetes mellitus, Hypoglycemia OMIM:616113
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Hypoglycemia OMIM:618958
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Menkes Disease
Microcephaly, Intracranial hemorrhage, Wormian bones OMIM:309400
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Coach Syndrome 2
Hepatic fibrosis, Portal fibrosis, Congenital hepatic fibrosis, Agenesis of corpus callosum, Hydr... OMIM:619111
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Ventriculomegaly, Delayed cranial suture closure, Cryptorchidism, ... OMIM:175700
Cutis Laxa, Autosomal Recessive, Type Iib
Congenital hip dislocation, Bruising susceptibility, Vascular tortuosity, Failure to thrive, Larg... OMIM:612940
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Cholestasis, Lethargy, Arrhy... OMIM:609015
Susac Syndrome
Lethargy, Apathy, Gait ataxia ORPHA:838
Erythrocytosis, Familial, 2
Hypotension, Failure to thrive, Varicose veins, Stroke, Pulmonary arterial hypertension, Cerebral... OMIM:263400
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Lethal Osteosclerotic Bone Dysplasia
Microcephaly, Large fontanelles, Delayed cranial suture closure ORPHA:1832
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Secondary microcephaly, Hydrocephalus, Inability to walk, Ataxia OMIM:618174
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Anorexia, Lipid accumulation in hepatocytes, Microcephaly, L... ORPHA:20
Late-Onset Isolated Acth Deficiency
Hypotension, Pituitary adenoma, Failure to thrive, Hepatitis, Lethargy, Weight loss, Adrenocortic... ORPHA:199299
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Abnormal temper tantrums, Ventriculomegaly, Failure to thrive, Decreased t... ORPHA:398069
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Large fontanelles, Cryptorchidism, Radioulnar synostosis, Hydrocephalus, Craniosynostosi... ORPHA:171839
Cerebral Visual Impairment
Ischemic stroke, Microcephaly, Attention deficit hyperactivity disorder, Hydrocephalus, Intracran... ORPHA:447788
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Broad-based gait, Increased body weight, Wormian bones, Increased bod... OMIM:614450
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Ataxia, Intracranial hemorrhage, Hypertension, Dandy-W... OMIM:614424
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Hepatic steatosis, Premature ventricular con... OMIM:212138
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ... OMIM:207950
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension, Adrenal hyperplasia ORPHA:404
Arachnoid Cyst
Depression, Enlarged fossa interpeduncularis, Diminished motivation, Self-neglect, Inability to w... ORPHA:2356
Papillary Tumor Of The Pineal Region
Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia ORPHA:251915
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Microcephaly, Small for gestational age OMIM:618302
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Steppage gait, Hydrocephalus, Inability to walk by childhood/adolescence, Increase... ORPHA:99947
Alobar Holoprosencephaly
Depression, Failure to thrive, Decreased response to growth hormone stimulation test, Panhypopitu... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Depression, Failure to thrive, Decreased response to growth hormone stimulation test, Panhypopitu... ORPHA:93926
Lobar Holoprosencephaly
Depression, Failure to thrive, Decreased response to growth hormone stimulation test, Panhypopitu... ORPHA:93924
Semilobar Holoprosencephaly
Depression, Failure to thrive, Decreased response to growth hormone stimulation test, Panhypopitu... ORPHA:220386
Mitochondrial Complex I Deficiency, Nuclear Type 33
Increased CSF lactate, Intrauterine growth retardation, Ventriculomegaly, Hypoglycemia OMIM:618253
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Intrauterine growth retardation, ... ORPHA:552
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Periventricular Nodular Heterotopia 1
Stroke, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Inability to walk, Microcephaly, Hydrocephalus, Abnormal left ventricular function OMIM:613155
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Hypoglycemia, Neonatal death OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Hypoglycemia, Neonatal death OMIM:618839
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Pterygium, Akinesia, Agenesis of corpus callosum, Microcephaly... OMIM:225790
Pallister-Hall-Like Syndrome
Occipital encephalocele, Anterior hypopituitarism, Microcephaly, Hypothalamic hamartoma, Hydrocep... OMIM:241800
Intellectual Developmental Disorder, X-Linked 30
Microcephaly, Aggressive behavior, Hyperactivity, Hydrocephalus, Restlessness, Agitation OMIM:300558
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Hypoglycemia OMIM:618838
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Craniosynostosis, Patent ductus arteriosus ORPHA:1516
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Lethargy, Pulmonary arterial hypertension, Cirrhosis, ... OMIM:215600
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Hypoinsulinemia, Type II diabetes mellitus, Hypoglycemia ORPHA:453533
Chromosome 16Q22 Deletion Syndrome
Failure to thrive, Cryptorchidism, Microcephaly, Wormian bones, Small for gestational age, Wide a... OMIM:614541
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Obesity, Hepatomegaly, Arrhythmia, Ventricular ta... ORPHA:26793
Mirage Syndrome
Decreased testicular size, Petechiae, Cryptorchidism, Decreased body weight, Hydrocephalus, Intra... OMIM:617053
Citrullinemia, Classic
Failure to thrive, Stroke, Lethargy, Cirrhosis, Ataxia, Hepatomegaly OMIM:215700
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Ventriculomegaly, Failure to thrive, Acetabular dysplasia, Microcephaly,... OMIM:619833
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Depression, Failure to thrive, Bradykinesia, Goiter, Reduced left ventric... ORPHA:254892
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Hydrocephalus ORPHA:2183
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy, Intraventricular hemorrhage, Failure to thrive, Reduced number of intrahepatic bile ducts ORPHA:79284
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Small for gestational age, Genu valgum, Microcephaly, Gait disturbance, Hydrocephalus, Genu varum... OMIM:613330
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Depression, Polydipsia, Anorexia, Splenomegaly, Hepatom... ORPHA:3452
Malonyl-Coa Decarboxylase Deficiency
Short stature, Hypoglycemia OMIM:248360
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus OMIM:614120
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Abnormal temper tantrums, Ventriculomegaly, Dilated third ventricle, Failure to thrive, Cryptorch... ORPHA:500055
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Aggressive behavior, Attention deficit hyperactivity disorder, Ataxi... OMIM:619320
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Dilated fourth ventricle, Vascular dilatation, Hydrocephalus, Truncal atax... OMIM:220220
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Decreased testicular size, Splenomegaly, Lethargy, Ataxia, Hepatomegaly OMIM:201100
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Cryptorchidism, Wormian bones, Patent ductus arteriosus, Anterior hypopi... ORPHA:2863
Laron Syndrome
Severe short stature, Delayed puberty, Hypoglycemia ORPHA:633
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage ORPHA:49566
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Failure to thrive, Cryptorchidism, Lethargy, Progressive microcephaly,... OMIM:607143
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Scrub Typhus
Hypotension, Abnormal bleeding, Splenomegaly, Lethargy, Myocarditis ORPHA:83317
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia OMIM:620137
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Decreased body weight, Microcephaly, Double outlet right ventricle, Delayed closu... OMIM:614886
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Acute hepatic steatosis, Failure to thrive OMIM:210200
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ventriculomegaly, Dilated cardiomyopathy, Gait ataxia, Aggressive behavior, Lethargy, Ataxia, Tac... OMIM:618321
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Increased CSF lactate, Hepatic steatosis, Lethargy, Hepatomegaly OMIM:614922
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Hydrocephalus OMIM:612247
L1 Syndrome
Aqueductal stenosis, Depression, Gait disturbance, Hydrocephalus ORPHA:275543
Maple Syrup Urine Disease, Type Ia
Lethargy, Pancreatitis, Ataxia OMIM:248600
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia OMIM:617872
Isolated Complex I Deficiency
Failure to thrive, Hypertrophic cardiomyopathy, Increased CSF lactate, Microcephaly, Lethargy, At... ORPHA:2609
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypoglycemia, Intrauterine growth retardation, Proportionate short stature, Severe postnatal grow... ORPHA:391408
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Dilated cardiomyopathy, Camptodactyly of finger, Gait disturbance, Hydrocephalus ORPHA:272
Neurocutaneous Melanocytosis
Ventriculomegaly, Intracranial hemorrhage, Dandy-Walker malformation, Meningocele ORPHA:2481
Infantile Sialic Acid Storage Disease
Failure to thrive, Congestive heart failure, Splenomegaly, Hydrocephalus, Hepatomegaly OMIM:269920
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Carotid artery dilatation, Patent ductus arterio... ORPHA:91387
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Gait disturbance, Hydrocephalus, Shoulder dislocation ORPHA:2181
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral ischemia, Splenomegaly, Cerebral hemo... OMIM:263300
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100006
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Intrauterine growth retardation, Ventriculomegaly, Hypoglycemia OMIM:617710
Fetal Gaucher Disease
Hepatomegaly, Abnormality of the spleen, Intracranial hemorrhage, Splenomegaly ORPHA:85212
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Secondary microcephaly, Microcephaly, Hydrocephalus, Aortic valve stenosis OMIM:615599
Combined Oxidative Phosphorylation Deficiency 10
Intrauterine growth retardation, Hypoglycemia OMIM:614702
Hypothyroidism Due To Tsh Receptor Mutations
Large posterior fontanelle, Lethargy, Bradycardia, Prolonged neonatal jaundice, Thyroid hypoplasia ORPHA:90673