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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
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hypoglycemia OMIM:223500
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Short Stature Due To Partial Ghr Deficiency
Growth delay, Hypoglycemia, Short stature, Delayed puberty ORPHA:314802
Pituitary Hormone Deficiency, Combined, 4
Severe postnatal growth retardation, Pituitary dwarfism, Hypoglycemia, Short stature OMIM:262700
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance OMIM:311100
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Short Stature Due To Ghsr Deficiency
Growth delay, Hypoglycemia, Short stature, Delayed puberty ORPHA:314811
RCAD (renal cysts and diabetes)
Diabetes mellitus DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Preaxial Hallucal Polydactyly
Diabetes mellitus OMIM:601759
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus, Gait disturbance, Lethargy, Failure to thrive ORPHA:26
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive, Gait disturbance, Anorexia ORPHA:79283
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Isolated Growth Hormone Deficiency, Type Ia
Growth delay, Severe short stature, Hypoglycemia OMIM:262400
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Short stature ORPHA:366
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Cranial Nerves, Recurrent Paresis Of
Diabetes mellitus OMIM:218200
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Microcephaly, Lethargy, Failure to thrive, Agenesis of corpus callosum OMIM:274270
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Lethargy, Agenesis of corpus callosum OMIM:605899
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Glut1 Deficiency Syndrome 1
Ataxia, Choreoathetosis, Secondary microcephaly, Hypoglycorrhachia, Lethargy, Paroxysmal lethargy OMIM:606777
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Hypoglycemia, Increased CSF lactate OMIM:616111
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Glycogen Storage Disease Vi
Postnatal growth retardation, Hypoglycemia OMIM:232700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Microcephaly, Hydrocephalus, Attention deficit hyperactivity disorder, Abnormal repetitiv... OMIM:618709
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Rhizomelia OMIM:166990
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Central Neurocytoma
Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Depression, Lethargy ORPHA:73256
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive, Ataxia ORPHA:622
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Secondary microcephaly, Difficulty walking, Lethargy OMIM:617829
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Combined Oxidative Phosphorylation Deficiency 2
Small for gestational age, Patent ductus arteriosus, Mild fetal ventriculomegaly, Lethargy, Agene... OMIM:610498
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Ataxia, Microcephaly, Increased CSF valine concentration, Increased CSF isoleucine ... OMIM:246900
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:147630
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Depression, Intracranial hemor... ORPHA:136
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Difficulty walking, Increased CSF lactate OMIM:613710
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Cerebral hemorrhage, Stroke, Gait disturbance, Dysphagia ORPHA:324708
Cerebral Cavernous Malformations
Intracranial hemorrhage, Hepatic vascular malformations, Cerebral cavernous malformation OMIM:116860
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Pineocytoma
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251912
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Atypical Teratoid Rhabdoid Tumor
Apathy, Ataxia, Hydrocephalus ORPHA:99966
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Short Chain Acyl-Coa Dehydrogenase Deficiency
Microcephaly, Cardiomyopathy, Lethargy, Failure to thrive, Hepatic steatosis ORPHA:26792
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Agitation, Palpitations, Diffuse p... ORPHA:276575
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Microcephaly, Increased CSF lactate, Choreoathetosis, Episodic ataxia,... OMIM:312170
Developmental And Epileptic Encephalopathy 40
Choreoathetosis, Lethargy, Small for gestational age OMIM:617065
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Agitation, Palpitations, Diffuse p... ORPHA:276556
Central Diabetes Insipidus
Anorexia, Weight loss, Depression, Lethargy, Polydipsia, Failure to thrive ORPHA:178029
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anorexia, Splenomegaly, Choreoathetosis, Cardiomyopathy, Stroke, Lethargy, Failure ... ORPHA:79312
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Hypertrophic cardiomyopathy, Ataxia OMIM:618683
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Growth delay, Short stature, Fasting hypoglycemia ORPHA:171706
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:604213
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Microcephaly, Hydrocephalus, Elbow flexion ... OMIM:619470
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Failure to thrive, Ataxia, Dysmetria, Truncal ataxia, Lethargy, Tetralogy of Fallot, Agenesis of ... OMIM:250620
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Gaba-Transaminase Deficiency
Lethargy, Agenesis of corpus callosum OMIM:613163
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Mitochondrial Complex I Deficiency, Nuclear Type 5
Hepatomegaly, Ataxia, Microcephaly, Increased CSF lactate, Dysphagia, Lethargy, Failure to thrive... OMIM:618226
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Hip dislocation, Tetralogy of Fallot, Attention deficit hyperactiv... ORPHA:250994
Hao-Fountain Syndrome
Cryptorchidism, Large fontanelles, Delayed cranial suture closure, Aggressive behavior OMIM:616863
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Orbital craniosynostosis ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Agitation, Palpitations, Diffuse p... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Growth delay OMIM:620211
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Dysphagia, Lethargy, Hypertrophic cardiomyopathy, Failure to thrive OMIM:613561
Hereditary Central Diabetes Insipidus
Lethargy, Polydipsia, Weight loss ORPHA:30925
Early Myoclonic Encephalopathy
Lethargy, Dysphagia ORPHA:1935
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Ataxia, Hepatomegaly OMIM:618224
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Decreased CSF homovanillic acid concentration OMIM:610090
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Art... OMIM:602390
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... ORPHA:36382
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Arthropathy, Hip contracture... ORPHA:169805
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Increased body weight, Agitation, Pancreatic islet-cell hyperplasia, Lethargy ORPHA:276608
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Wide anterior fontanel, Pulmonary arterial hypertensi... OMIM:619064
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Choreoathetosis, Hypoglycorrhachia, Lethargy, Progressive microcephaly ORPHA:71277
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Small for gestational age, Large for gestational age, Syncope, Agitati... ORPHA:324575
N-Acetylglutamate Synthase Deficiency
Lethargy, Failure to thrive, Aggressive behavior OMIM:237310
Masa Syndrome
Microcephaly, Hydrocephalus, Shuffling gait, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Meningococcal Meningitis
Shock, Anorexia, CSF pleocytosis, Stroke, Abnormality of the anterior fontanelle, Hypotension, Hy... ORPHA:33475
Dural Sinus Malformation
Ataxia, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocep... ORPHA:97339
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Neuromuscula... ORPHA:449285
Cyclic Vomiting Syndrome
Ataxia, Anorexia, Microcephaly, Cardiomyopathy, Attention deficit hyperactivity disorder, Lethargy OMIM:500007
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Mitochondrial Complex I Deficiency, Nuclear Type 6
Ataxia, Lethargy, Hypertrophic cardiomyopathy, Failure to thrive, Ventriculomegaly OMIM:618228
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Ataxia, Microcephaly, Agitation, Stroke, Cerebral ischemia, Lethargy, Failure to th... ORPHA:927
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Severe Canavan Disease
Inability to walk, Lethargy, Oral-pharyngeal dysphagia ORPHA:314911
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Short stature, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic keto... OMIM:262190
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Abnormality of the elb... ORPHA:98878
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Postnatal growth retardation, Short stature, Hypoglycemia, Neonatal hypoglycemia ORPHA:231140
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Anorexia, Paroxysmal atrial tachycardia, Congestive heart failure, Stroke, Lethargy ORPHA:49827
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Ataxia, Transient ischemic attack, CSF pleocytosis, Intracranial hemorrhage,... ORPHA:140989
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Pseudo-Torch Syndrome 2
Hepatomegaly, Ventriculomegaly, Cerebral hemorrhage, Microcephaly, Patent ductus arteriosus, Late... OMIM:617397
Hjv Or Hamp-Related Hemochromatosis
Arthropathy, Congenital hepatic fibrosis, Dilated cardiomyopathy, Abnormality of endocrine pancre... ORPHA:79230
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... ORPHA:90065
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... ORPHA:3282
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Hypertriglyceridemia 1
Glucose intolerance OMIM:145750
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Developmental And Epileptic Encephalopathy 36
Abnormal bleeding, Hepatomegaly, Microcephaly, Hydrocephalus, Self-mutilation OMIM:300884
Pontocerebellar Hypoplasia, Type 6
Microcephaly, Increased CSF lactate, Lethargy, Failure to thrive, Progressive microcephaly OMIM:611523
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Failure to thrive, Hepatomegaly ORPHA:28
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Edinburgh Malformation Syndrome
Jaundice, Failure to thrive, Hydrocephalus OMIM:129850
Idiopathic Congenital Hypothyroidism
Large posterior fontanelle, Bradycardia, Prolonged neonatal jaundice, Lethargy, Delayed cranial s... ORPHA:95717
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Lethargy, Hypertrophic cardiomyopathy, Hepatic steatosis, Pancreatitis OMIM:619386
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Lethal Infantile Mitochondrial Myopathy
Lethargy, Cardiomyopathy ORPHA:254857
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Abnormal cardiac ventricular function, Ataxia, Microcephaly, Cardiomyopathy, Lethar... ORPHA:2394
Temple Syndrome
Short stature, Postnatal growth retardation, Hydrocephalus, Recurrent hypoglycemia, Type II diabe... ORPHA:254516
Brain Small Vessel Disease 2
Intracranial hemorrhage, Ventriculomegaly OMIM:614483
Mehmo Syndrome
Birth length less than 3rd percentile, Hypoglycemia, Ventriculomegaly, Delayed puberty OMIM:300148
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Hyperphenylalaninemia, Bh4-Deficient, B
Choreoathetosis, Lethargy, Increased CSF phenylalanine concentration, Dysphagia OMIM:233910
Kleeblattschaedel
Hydrocephalus, Elbow ankylosis, Craniosynostosis OMIM:148800
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia ORPHA:293964
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Central Precocious Puberty In Male
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Hydrocephalus, Atten... ORPHA:649929
Craniotelencephalic Dysplasia
Craniosynostosis, Microcephaly, Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Gait ataxia, Bradykinesia, Decreased CSF homovanillic acid concentration, Lethargy ORPHA:101150
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Insulinoma
Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Increased body weight, Pi... ORPHA:97279
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Ventriculomegaly, Hypoglycemia, Short stature ORPHA:48431
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Ataxia, Increased CSF lactate OMIM:618225
Glycogen Storage Disease Ixb
Growth delay, Hypoglycemia, Short stature OMIM:261750
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hyp... ORPHA:99828
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Hypoglycemia ORPHA:231147
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... OMIM:609637
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Acute hepatitis, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Lethargy, Failure t... OMIM:238970
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
1P31P32 Microdeletion Syndrome
Craniosynostosis, Intraventricular hemorrhage, Attention deficit hyperactivity disorder, Compulsi... ORPHA:401986
Biemond Syndrome Type 2
Hydrocephalus, Short stature, Delayed puberty ORPHA:141333
Glycogen Storage Disease Ixc
Postnatal growth retardation, Growth delay, Hypoglycemia, Fasting hypoglycemia OMIM:613027
Fried Syndrome
Hydrocephalus, Gait disturbance, Aggressive behavior ORPHA:85335
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Familial Thyroid Dyshormonogenesis
Large posterior fontanelle, Bradycardia, Prolonged neonatal jaundice, Lethargy, Delayed cranial s... ORPHA:95716
Leukoencephalopathy With Vanishing White Matter 1
Lethargy, Unsteady gait, Gait disturbance, Cessation of head growth OMIM:603896
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Splenomegaly, Letha... ORPHA:99745
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Dilated cardiomyopath... ORPHA:280679
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Microcephaly ORPHA:398189
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Depression, Pr... ORPHA:99832
Glutaric Acidemia Type 3
Lethargy, Failure to thrive, Impulsivity ORPHA:35706
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Isolated Thyroid-Stimulating Hormone Deficiency
Large posterior fontanelle, Delayed cranial suture closure, Pituitary hypothyroidism, Depression,... ORPHA:90674
Evans Syndrome
Epistaxis, Jaundice, Syncope, Lethargy, Bruising susceptibility, Petechiae ORPHA:1959
Alexander Disease
Ataxia, Hydrocephalus, Dysmetria, Apathy, Increased CSF protein concentration OMIM:203450
Craniosynostosis 6
Dandy-Walker malformation, Delayed cranial suture closure, Craniosynostosis, Microcephaly, Latera... OMIM:616602
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Failure to thrive, Stroke, Ataxia OMIM:237300
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Attention deficit... ORPHA:261102
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... OMIM:202400
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Congestive heart failure, Cardiomyopathy, Mitral ... OMIM:212140
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Thyroid Dyshormonogenesis 1
Lethargy, Goiter OMIM:274400
Methylcobalamin Deficiency Type Cble
Microcephaly, Hydrocephalus, Hypertension, Abnormality of the liver, Lethargy, Failure to thrive,... ORPHA:2169
Classic Galactosemia
Hepatomegaly, Ataxia, Cryptorchidism, Jaundice, Depression, Gait disturbance, Gait imbalance, Att... ORPHA:79239
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Dilated cardiomyopathy, Gait imbalance, Ankle flexion contracture OMIM:618120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Medulloblastoma
Ataxia, Delayed cranial suture closure, Cerebellar hemorrhage, Hydrocephalus, Dysmetria, Progress... ORPHA:616
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Short stature ORPHA:364
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy, Failure to thrive, Gait disturbance OMIM:236270
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Lethargy, Failure to thrive, Pancreatitis OMIM:251000
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hydrocephalus, Hypoglycemia, Ventriculomegaly OMIM:616355
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
2,4-Dienoyl-Coa Reductase Deficiency
Ataxia, Microcephaly, Hydrocephalus, Increased CSF lactate, Choreoathetosis, Colpocephaly, Increa... OMIM:616034
Ogden Syndrome
Ventriculomegaly, Delayed cranial suture closure, Cryptorchidism, Pulmonary artery stenosis, Shuf... ORPHA:276432
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Congestive hear... ORPHA:465508
Gómez-López-Hernández Syndrome
Hydrocephalus, Short stature ORPHA:1532
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus OMIM:619302
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Propionic Acidemia
Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Lethargy, Failure to thrive, Pancreatitis OMIM:606054
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly, Dislocate... OMIM:304100
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Ataxia, Choreoathetosis, Cardiomyopathy, Lethargy, Pancreatitis ORPHA:27
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Polydipsia ORPHA:403
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Crigler-Najjar Syndrome
Lethargy, Jaundice, Abnormality of the liver ORPHA:205
Pyruvate Dehydrogenase Deficiency
Ataxia, Microcephaly, Choreoathetosis, Gait disturbance, Lethargy, Ventriculomegaly ORPHA:765
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Failure to thrive, Anorexia, Hepatosplenomegaly OMIM:611590
Idiopathic Intracranial Hypertension
Lethargy, Obesity, Depression ORPHA:238624
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Subdural hemorrhage, Hip dislocation, Lateral ventricle dilatation, E... OMIM:618291
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Alexander Disease Type I
Ataxia, Cachexia, Hydrocephalus, Dysphagia, Failure to thrive ORPHA:363717
Band Heterotopia
Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:600348
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding ORPHA:98880
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Hydrocephalus, Obesity, Polyphagia, Self-mutilation OMIM:616521
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Craniosynostosis, Cryptorchidism, Hydrocephalus, Metopic synostosis, Joint cont... OMIM:175700
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Increased CSF lactate, Gait disturbance, Loss of ambulation, Lethargy, Failure to thrive OMIM:615838
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... ORPHA:465
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Ventriculomegaly OMIM:618241
Isovaleric Acidemia
Lethargy, Cerebellar hemorrhage OMIM:243500
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Microcephaly OMIM:610006
Hydranencephaly
Ventriculomegaly, Abnormality of fontanelles, Abnormal internal carotid artery morphology, Dilata... ORPHA:2177
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia, Ventriculomegaly ORPHA:2158
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Cryptorchidism, Hydrocephalus, Unilambdoid synostosis, Agenesis of ... OMIM:618577
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Increased CSF lactate, Growth delay, Neonatal death, Intrauterine growth retardation OMIM:245400
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Postnatal growth retardation, Hypoglycemia, Short stature ORPHA:231137
Leukoencephalopathy With Calcifications And Cysts
Cerebral hemorrhage, Stroke, Ataxia, Gait disturbance ORPHA:542310
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... OMIM:609757
Hypercalcemia, Infantile, 1
Lethargy, Failure to thrive, Weight loss OMIM:143880
Citrullinemia Type I
Ankle clonus, Lethargy, Failure to thrive, Ataxia ORPHA:247525
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Lethargy, Pancreatitis, Hepatomegaly ORPHA:289916
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ataxia, Microcephaly, Hydrocephalus, Stroke, Gait disturbance, Lethargy, Failure to thrive, Ventr... ORPHA:395
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Short stature, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Ataxia, Cachexia, Lethargy, Arrhythmia, Hepatic steatosis ORPHA:42
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Macrovesicular hepatic steatosis, ... OMIM:600649
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Pulmonary arterial hypertension, ... OMIM:614857
Citrullinemia Type Ii
Hepatomegaly, Hyperactivity, Restlessness, Decreased body mass index, Aggressive behavior, Abnorm... ORPHA:247585
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Elevated circulating luteinizing hormone l... OMIM:300845
2P21 Microdeletion Syndrome
Growth delay, Hypoglycemia ORPHA:163693
Glycogen Storage Disease Iii
Hypoglycemia, Short stature OMIM:232400
Holocarboxylase Synthetase Deficiency
Lethargy, Ataxia, Anorexia, Weight loss ORPHA:79242
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Hypoglycemia OMIM:619048
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Ataxia, Dilated cardiomyopathy, Increased CSF glycine concentration, Lethargy, Hype... OMIM:614299
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Increased body weight, Pancreatic islet-cel... ORPHA:263455
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Growth delay, Hypoglycemia, Short stature, Delayed puberty ORPHA:369
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Athetosis, Hypertension, Second degree a... ORPHA:369929
Hypophosphatasia, Infantile
Craniosynostosis, Anorexia, Intracranial hemorrhage, Widely patent fontanelles and sutures, Failu... OMIM:241500
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Diarrhea 13
Recurrent hypoglycemia OMIM:620357
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Secondary growth hormone deficiency, Hydrocephalus, Pi... ORPHA:91350
Silver-Russell Syndrome 2
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia OMIM:618905
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Pyridoxine-Dependent Epilepsy
Hypoglycemia, Ventriculomegaly ORPHA:3006
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Bipolar affective disorder, Ataxia, Decreased response to growth hormone stimulati... OMIM:601853
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Short stature, Postnatal growth retardation, Insulin resistance, Severe postnatal g... ORPHA:73272
Isolated Atp Synthase Deficiency
Hepatomegaly, Ataxia, Microcephaly, Dilated cardiomyopathy, Arrhythmia, Lethargy, Hypertrophic ca... ORPHA:254913
Propionic Acidemia
Hypoglycemia ORPHA:35
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Large posterior fontanelle, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased... ORPHA:226307
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Dihydropyrimidinase Deficiency
Lethargy OMIM:222748
Riboflavin Deficiency
Lethargy OMIM:615026
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Lethargy, Agenesis of corpus callosum, Intrahepatic biliary ... OMIM:614866
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t... ORPHA:774
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Pol... ORPHA:251274
Glycogen Storage Disease Ixa1
Growth delay, Hypoglycemia OMIM:306000
Glutaryl-Coa Dehydrogenase Deficiency
Joint dislocation, Communicating hydrocephalus, Ataxia, Subdural hemorrhage, Retinal hemorrhage, ... ORPHA:25
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones ORPHA:2773
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased CSF lactate, Pulmonary arterial hypertension, Increased CSF glycine concentration, Leth... OMIM:605711
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Depression, Intracranial hemorrhage, Self-injurious behav... ORPHA:324636
Hogue-Janssen Syndrome 2
Prominent metopic ridge, Microcephaly, Inability to walk, Hydrocephalus, Gait ataxia, Agenesis of... OMIM:616362
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, J... ORPHA:137675
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hepatomegaly, Cardiac arrest, Increased CSF lactate, Lethargy, Hypertrophic cardiomyopathy, Ventr... OMIM:604377
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Delayed closure of the anterior fontanelle, Microcephaly, Lateral vent... OMIM:618736
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Microcephaly ORPHA:2787
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Sudden cardiac death, Microcephaly, Hepatocellular necrosis, Periportal fibrosis, R... OMIM:201475
Hemochromatosis, Neonatal
Intrauterine growth retardation, Hypoglycemia OMIM:231100
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Obesity, Abdominal obesity, Small pituitary gland, Abnormal temper tantrums, Skin... ORPHA:398079
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ventriculomegaly, Microcephaly, Dilated cardiomyopathy, Elbow flexion contracture, ... OMIM:608836
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... ORPHA:53719
Autosomal Recessive Cutis Laxa Type 2A
Abnormal bleeding, Dilated fourth ventricle, Persistent open anterior fontanelle, Congenital hip ... ORPHA:357058
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Prolonged bleeding time, Splenomegaly, Weight loss, Intracranial hemorrhage, Bruisi... ORPHA:3226
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion, Depression ORPHA:73267
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Sudden cardiac death, Arrhythmia, Lethargy, Hypertrophic cardiomyopathy ORPHA:156
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Diffuse hepatic steatosis, Tricuspid regurgitation, Failure to thrive in infa... ORPHA:746
Sneddon Syndrome
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Diencephalic Syndrome
Hydrocephalus, Cachexia, Decreased body weight ORPHA:1672
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy, Microcephaly OMIM:617105
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Microcephaly, Jaundice, Hydrocephalus, Ventriculomegaly ORPHA:858
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Postnatal growth retardation, Hypoglycemia, Short stature OMIM:616113
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Craniosynostosis ORPHA:380
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Hypoglycemia OMIM:618958
Aicardi-Goutieres Syndrome 4
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Infantile Liver Failure Syndrome 2
Lethargy, Jaundice, Prolonged prothrombin time, Cardiomyopathy OMIM:616483
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Hydrocephalus, Ataxia, Secondary microcephaly OMIM:618174
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Menkes Disease
Intracranial hemorrhage, Wormian bones, Microcephaly OMIM:309400
Coach Syndrome 2
Congenital hepatic fibrosis, Hydrocephalus, Hypertension, Portal fibrosis, Hepatic fibrosis, Agen... OMIM:619111
Complete Atrioventricular Septal Defect
Abnormal EKG, Hepatomegaly, Left-to-right shunt, Tachycardia, Failure to thrive, Right ventricula... ORPHA:1329
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Congestive heart failure, Dilated cardiomyopathy, Cholestasis, Letharg... OMIM:609015
Lethal Osteosclerotic Bone Dysplasia
Large fontanelles, Delayed cranial suture closure, Microcephaly ORPHA:1832
Congenital Hydrocephalus
Colpocephaly, Hydrocephalus, Ventriculomegaly ORPHA:2185
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Dysphagia,... ORPHA:319218
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... ORPHA:94080
Susac Syndrome
Lethargy, Apathy, Gait ataxia ORPHA:838
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension, Failur... OMIM:263400
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Diminished motivation, Subarachnoid hemorrhage, ... ORPHA:2356
Papillary Tumor Of The Pineal Region
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251915
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricu... OMIM:212138
Cerebral Visual Impairment
Microcephaly, Hydrocephalus, Intracranial hemorrhage, Ischemic stroke, Attention deficit hyperact... ORPHA:447788
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Cryptorchidism, Increased body weight, Abdominal obesity, Small pituitary gland, Com... ORPHA:398069
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Broad-based gait, Congenital hip dislocation, Increased body weight, W... OMIM:614450
Joubert Syndrome 14
Encephalocele, Ataxia, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Dandy-W... OMIM:614424
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Small for gestational age, Microcephaly OMIM:618302
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Hydrocephalus, Inability to walk by childhood/adolescence, Increased laxity of ank... ORPHA:99947
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Ataxia, Cardiac arrest, Anorexia, Microcephaly, Jaundice, Dilat... ORPHA:20
Chiari Malformation Type Ii
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia, Agenesis o... OMIM:207950
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Hypoglycemia, Ventriculomegaly, Increased CSF lactate OMIM:618253
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Large fontanelles, Obe... ORPHA:171839
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Intrauterine growth retardation, Hypoglycemia OMIM:618835
Pallister-Hall-Like Syndrome
Occipital encephalocele, Microcephaly, Hydrocephalus, Hip dislocation, Hypothalamic hamartoma, An... OMIM:241800
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Microcephaly, Aggressive behavior, Hydrocephalus, Agitation OMIM:300558
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Intrauterine growth retardation, Hypoglycemia OMIM:618839
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia ORPHA:453533
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... ORPHA:552
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Congenital hip dislocation, Microcephaly, Hydrocephalus, Large fonta... OMIM:612940
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Hypoglycemia OMIM:618838
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Microcephaly, Inability to walk, Hydroceph... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Microcephaly, Inability to walk, Hydroceph... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Microcephaly, Inability to walk, Hydroceph... ORPHA:93924
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Microcephaly, Inability to walk, Hydroceph... ORPHA:220386
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Orthostatic hypotension, Anorexia, Pituitary adenoma, Adrenocorticotropic hor... ORPHA:199299
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus, Hydrocephalus, Craniosynostosis ORPHA:1516
Citrullinemia, Classic
Hepatomegaly, Ataxia, Stroke, Cirrhosis, Lethargy, Failure to thrive OMIM:215700
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Akinesia, Microcephaly, Hydrocephalus, Hydranencephaly, Pterygium, Agenesis of ... OMIM:225790
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Pulmonary... OMIM:215600
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Adrenal hyperplasia, Epistaxis ORPHA:404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microcephaly, Inability to walk, Hydrocephalus, Abnormal left ventricular function, Cardiomyopathy OMIM:613155
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Short stature ORPHA:2183
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ataxia, Aggressive behavior, Microcephaly, Hydrocephalus, Self-injurious behavior, Colpocephaly, ... OMIM:619833
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Small for gestational age, Overweight, Jaundice... ORPHA:26793
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia, Short stature OMIM:248360
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Small for gestational age, Microcephaly, Cryptorchidism, Wide anterior f... OMIM:614541
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Vascular dilatation, Patent ductus arteriosus, Hydrocephalus, Truncal a... OMIM:220220
Autosomal Dominant Progressive External Ophthalmoplegia
Bipolar affective disorder, Ataxia, Atrial fibrillation, Dilated cardiomyopathy, Gait ataxia, Bra... ORPHA:254892
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Small for gestational age, Microcephaly, Hydrocephalus, Hip dislocation, Genu valgum, Gait distur... OMIM:613330
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
Intellectual Developmental Disorder, Autosomal Dominant 65
Prominent metopic ridge, Ataxia, Aggressive behavior, Noncommunicating hydrocephalus, Attention d... OMIM:619320
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Ataxia, Anorexia, Myocardial infarction,... ORPHA:3452
Maple Syrup Urine Disease
Lethargy, Ataxia, Pancreatitis OMIM:248600
Laron Syndrome
Severe short stature, Hypoglycemia, Delayed puberty ORPHA:633
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... ORPHA:624
Mirage Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Intracranial hemorrhage, Decreased body ... OMIM:617053
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Lethargy, Failure to thrive, Reduced number of intrahepatic bile ducts ORPHA:79284
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Decreased CSF homovanillic acid concentration ORPHA:79096
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Arrhythmia, Hepatic steatosis, Hepatomegaly OMIM:255120
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia OMIM:620137
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage ORPHA:49566
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Wormian bones, Anterior hypopi... ORPHA:2863
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Increased CSF lactate, Cardiomyopathy, Lethargy, Hepatic steatosis OMIM:614922
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Lethargy, Failure to thrive OMIM:210200
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Hydrocephalus, Dilated cardiomyopathy, Gait disturbance, Ventriculomegaly ORPHA:272
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia OMIM:617872
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Gait disturbance, Depression ORPHA:275543
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Ventriculomegaly, Meningocele, Dandy-Walker malformation ORPHA:2481
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Cryptorchidism, Microcephaly, Di... ORPHA:500055
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia, Proportionate short stature, Severe postnatal growth retardation... ORPHA:391408
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Microcephaly, Wide anterior fontanel, Patent ductus a... OMIM:614886
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Cryptorchidism, Patent ductus arteriosus, Lethargy, Failure to thrive,... OMIM:607143
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Ataxia, Aggressive behavior, Dilated cardiomyopathy, Gait ataxia, Lethargy, Ventricu... OMIM:618321
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Splenomegaly, Lethargy, Failure to thrive, Decreased testicular size OMIM:201100
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... ORPHA:91387
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Hydrocephalus, Congestive heart failure, Failure to thrive OMIM:269920
Necrotizing Enterocolitis
Shock, Small for gestational age, Peritonitis, Bradycardia, Hypotension, Lethargy ORPHA:391673
Isolated Complex I Deficiency
Hepatomegaly, Ataxia, Microcephaly, Increased CSF lactate, Lethargy, Hypertrophic cardiomyopathy,... ORPHA:2609
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, Hypoglycemia, Ventriculomegaly OMIM:617710
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Shoulder dislocation, Gait disturbance, Hydrocephalus ORPHA:2181
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Cerebral ischemia, Budd-Chiari sy... OMIM:263300
Scrub Typhus
Abnormal bleeding, Splenomegaly, Myocarditis, Hypotension, Lethargy ORPHA:83317
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Secondary microcephaly, Hydrocephalus, Microcephaly OMIM:615599
Combined Oxidative Phosphorylation Deficiency 10
Intrauterine growth retardation, Hypoglycemia OMIM:614702
Hypothyroidism Due To Tsh Receptor Mutations
Large posterior fontanelle, Bradycardia, Prolonged neonatal jaundice, Lethargy, Thyroid hypoplasi... ORPHA:90673
Fetal Gaucher Disease
Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Hepatomegaly ORPHA:85212
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Ataxia, Prolonged prothrombin time, Stroke, Episodic ataxia, Lethargy, Failure to thrive OMIM:311250
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Impaired glucose tolerance, Short stature, Hydrocephalus, Glucose intolerance, Ventriculomegaly OMIM:615630
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Craniosynostosis OMIM:612247
Aromatic L-Amino Acid Decarboxylase Deficiency
Tongue thrusting, Choreoathetosis, Athetosis, Decreased CSF homovanillic acid concentration, Hypo... OMIM:608643
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Superficial Siderosis
Abnormal bleeding, Enlarged sylvian cistern, Increased CSF protein concentration, Ataxia, Subarac... ORPHA:247245
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Pulmonary embolism, Microcephaly, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ... ORPHA:79282
Post-Traumatic Pituitary Deficiency
Growth delay, Hypoglycemia, Delayed puberty ORPHA:95619
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Hepatic steatosis, Hepatomegaly OMIM:201450
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Acys Amyloidosis
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100008
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Recurrent hand flapping, Fetal intraventricular hemorrhage, Unsteady gait, Pica OMIM:618480
Craniosynostosis 4
Ectopic posterior pituitary, Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosi... OMIM:600775
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Intrauterine growth retardation, Hypoglycemia, Increased CSF lactate OMIM:620275
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Microcephaly, Ventricular tachycardia, Cardiomyopathy, Hypotension, Lethargy, Arrhy... ORPHA:159
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Dilated cardiomyopathy, Hepatic necrosis, Prolonged prothrombin time, Leth... ORPHA:71212
Erythrocytosis, Familial, 1
Splenomegaly, Cerebral hemorrhage, Hypertension, Myocardial infarction OMIM:133100
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Decreased CSF copper concentration, Increased CSF lactate, Lethargy, Ven... OMIM:620306
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Failure to thrive, Ataxia, Cardiomyopathy OMIM:201470
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia OMIM:615160
Donohue Syndrome
Postnatal growth retardation, Hyperinsulinemia, Fasting hypoglycemia, Postprandial hyperglycemia,... OMIM:246200
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... ORPHA:99901
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... OMIM:171420
Cog8-Cdg
Hypoglycemia, Ventriculomegaly ORPHA:95428
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Lethargy, Dysphagia, Gait ataxia OMIM:607483
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum, Ventriculom... OMIM:218350
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Short stature, Fasting hypoglycemia ORPHA:436174
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Hydrocephalus OMIM:300886
Pituitary Hormone Deficiency, Combined, 6
Short stature, Hypoglycemia, Neonatal hypoglycemia OMIM:613986
Glutaric Acidemia I
Hydrocephalus, Hypoglycemia, Lateral ventricle dilatation OMIM:231670
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Growth delay, Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Fg Syndrome Type 1
Limited elbow extension and supination, Broad-based gait, Craniosynostosis, Cryptorchidism, Hydro... ORPHA:93932
Renal Hypoplasia, Bilateral
Small for gestational age, Cryptorchidism, Hypertension, Lethargy, Failure to thrive ORPHA:97362
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pheochromocy... ORPHA:652
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Unsteady gait, Agenesis of corpus callosum OMIM:617542
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive heart failure, Adrenal pheochromoc... ORPHA:276621
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Short stature, Hypoglycemic seizures OMIM:262600
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Staphylococcal Necrotizing Pneumonia
Shock, Lethargy, Addictive alcohol use, Hypotension ORPHA:36238
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension, Lethargy, Failure to thrive ORPHA:427
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Increased CSF lactate, Neonatal death, Intrauterine growth retardation, Neonatal hy... OMIM:619055
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Temple Syndrome
Small for gestational age, Overweight, Cryptorchidism, Hydrocephalus, Obesity, Truncal obesity, D... OMIM:616222
Smith-Kingsmore Syndrome
Rhizomelia, Hypoglycemia, Ventriculomegaly OMIM:616638
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Impaired gluconeogenesis, Hypoglycemia, Fasting hypoglycemia OMIM:261680
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Growth delay, Recurrent hypoglycemia, Delayed puberty, Intrauterine growth retarda... OMIM:616817
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypoglycemia, Short stature, Glycosuria OMIM:616026
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Tachycardia, Hepatomegaly OMIM:229700
Tenorio Syndrome
Hydrocephalus, Hypoglycemia, Hypoinsulinemia, Ventriculomegaly OMIM:616260
Argininosuccinic Aciduria
Hepatomegaly, Ataxia, Hepatic fibrosis, Lethargy, Failure to thrive, Elevated CSF argininosuccini... OMIM:207900
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Emanuel Syndrome
Ventriculomegaly, Congenital hip dislocation, Truncus arteriosus, Microcephaly, Cryptorchidism, P... ORPHA:96170
Shashi-Pena Syndrome
Intrauterine growth retardation, Hypoglycemia, Mild fetal ventriculomegaly, Ventriculomegaly OMIM:617190
Bresek Syndrome
Neonatal death, Intrauterine growth retardation, Hydrocephalus, Growth delay ORPHA:85284
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Hepatosplenome... ORPHA:464329
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Small for gestational age, Patent ductus arteriosus, Lethargy, Failure to thrive OMIM:277380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Intrauterine growth retardation, Hypoglycemia ORPHA:397590
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Thanatophoric Dysplasia Type 2
Encephalocele, Short stature, Hydrocephalus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus, Abnormality of the elbow, Pulmonic stenosis, Hypertrophic cardiomy... ORPHA:2701
Pettigrew Syndrome
Ventriculomegaly, Aggressive behavior, Microcephaly, Aqueductal stenosis, Hydrocephalus, Gait ata... OMIM:304340
Craniopharyngioma
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Myocardial infarction, Hydrocephalu... ORPHA:54595
Idiopathic Hypereosinophilic Syndrome
Transient ischemic attack, Cholangitis, Supraventricular arrhythmia, Pulmonary embolism, Raynaud ... ORPHA:3260
Cutis Laxa, Autosomal Recessive, Type Iiia
Wide cranial sutures, Congenital hip dislocation, Cryptorchidism, Large fontanelles, Hip dislocat... OMIM:219150
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Wa... OMIM:611134
Transcobalamin Ii Deficiency
Lethargy, Failure to thrive, Ataxia, Hepatomegaly OMIM:275350
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Neonatal hypoglycemia OMIM:606407
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Int... ORPHA:99827
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, Short stature ORPHA:1946
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Dilation of Virchow-Robin spaces, Congenital hip dislocation, Prominent metopic ri... OMIM:619512
Aspergillosis
Intracranial hemorrhage, Stroke, Hepatitis ORPHA:1163
Trichinellosis
Abnormal cerebrospinal fluid morphology, Retinal hemorrhage, Central retinal artery occlusion, Ap... ORPHA:863
Tarp Syndrome
Large fontanelles, Tetralogy of Fallot, Subdural hemorrhage, Athetosis, Failure to thrive OMIM:311900
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hepatomegaly, Ventriculomegaly, Inability to walk, Gait ataxia, Extra-axial cerebrospinal fluid a... OMIM:619383
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Anorexia, Pulmonary embolism, Genu valgum, Intracrania... ORPHA:394
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Increased CSF lactate OMIM:619046
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Pancreatic fibrosis, Small for gestational age, Anorexia, Macronodular cirrhosis, L... OMIM:557000
Oxoglutaric Aciduria
Hydrocephalus, Short stature ORPHA:31
Optic Pathway Glioma
Growth delay, Hydrocephalus ORPHA:2086
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Dysphagia ORPHA:163961
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Enlarged pol... ORPHA:91348
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... ORPHA:1908
Genetic Transient Congenital Hypothyroidism
Lethargy, Prolonged neonatal jaundice, Thyroid hypoplasia, Goiter ORPHA:226316
Fructose-1,6-Bisphosphatase Deficiency
Ventriculomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia ORPHA:348
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Hyperglycemia, Hypoglycemia OMIM:615453
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sagittal craniosynostosis, Hydrocephalus, Attention deficit hyperactivity disorder, Aortic valve ... ORPHA:459061
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Diabetic Embryopathy
Microcephaly, Cryptorchidism, Abnormality of the pancreas, Hydrocephalus, Spinal dysraphism, Abno... ORPHA:1926
Ventriculomegaly With Defects Of The Radius And Kidney
Lateral ventricle dilatation, Hydrocephalus, Vascular dilatation, Ventriculomegaly OMIM:602200
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus OMIM:300863
Pituitary Stalk Interruption Syndrome
Hypoglycemia, Short stature, Delayed puberty ORPHA:95496
Parietal Foramina 1
Wormian bones, Encephalocele OMIM:168500
Intellectual Developmental Disorder, Autosomal Recessive 65
Prominent metopic ridge, Supernumerary nipple, Aggressive behavior, Cryptorchidism, Partial agene... OMIM:618109
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Vitamin K Antagonist Embryofetopathy
Intrauterine growth retardation, Myelomeningocele, Hydrocephalus ORPHA:1914
B4Galt1-Cdg
Abnormal bleeding, Hepatomegaly, Small for gestational age, Splenomegaly, Hydrocephalus, Dandy-Wa... ORPHA:79332
1Q44 Microdeletion Syndrome
Prominent metopic ridge, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Hsd10 Disease, Infantile Type
Hypoglycemia, Increased CSF lactate ORPHA:391428
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Slender build, Decreased response to growth hormone stimulation test, Testicul... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Slender build, Decreased response to growth hormone stimulation test, Testicul... ORPHA:363958
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Hepatomegaly, Microcephaly, Splenomegaly, Patent ductus arteriosus, Hydrocepha... OMIM:614576
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Asplenia, Stroke-like episode, Hypoplastic... OMIM:185070
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Cholestasis, Pulmonary arterial hypertension, Lethargy, Fa... OMIM:620233
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Krabbe Disease
Hydrocephalus, Failure to thrive, Increased CSF protein concentration OMIM:245200
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Hip dislocation OMIM:109120
Lessel-Kreienkamp Syndrome
Wide cranial sutures, Aggressive behavior, Patent ductus arteriosus, Pulmonic stenosis, Attention... OMIM:619149
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Methylmalonic Aciduria, Cblb Type
Lethargy, Failure to thrive, Hepatomegaly OMIM:251110
Menkes Disease
Gastrointestinal hemorrhage, Tarsal synostosis, Microcephaly, Venous insufficiency, Arterial sten... ORPHA:565
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Hydrocephalus, Double outlet right ventric... OMIM:220210
Alexander Disease
Ataxia, Sudden cardiac death, Aqueductal stenosis, Hydrocephalus, Depression, Self-injurious beha... ORPHA:58
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Broad-based gait, Failure to thrive, Aggressive behavior, Tongue ... ORPHA:369950
Meningioma
Enlarged pituitary gland, Ataxia, Reduced circulating prolactin concentration, Neoplasm of the an... ORPHA:2495
Silver-Russell Syndrome 1
Small for gestational age, Decreased response to growth hormone stimulation test, Hepatocellular ... OMIM:180860
Metatropic Dysplasia
Hydrocephalus, Severe short stature ORPHA:2635
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Microcephaly, Hydrocephalus, Cardiomyopathy, A... ORPHA:370959
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Ataxia, Akinesia, Aggressive behavior, Microcephaly, Inabili... ORPHA:86309
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Obesity OMIM:601794
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased proinsulin:insulin ratio ORPHA:94086
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Triploidy
Hepatomegaly, Cryptorchidism, Abnormality of the pancreas, Abnormality of the gallbladder, Hydroc... ORPHA:3376
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy, Hydrocephalus, Failure to thrive, Microcephaly OMIM:277400
Lowry-Maclean Syndrome
Craniosynostosis, Microcephaly, Bilateral cryptorchidism, Abnormality of the abdominal organs, Hy... ORPHA:2409
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... ORPHA:340
Intrahepatic Cholestasis Of Pregnancy
Small for gestational age, Abnormality of the pancreas, Jaundice, Depression, Abnormal pineal mel... ORPHA:69665
Nelson Syndrome
Testicular neoplasm, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormone excess, In... ORPHA:199244
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of the wrist, Large fontanelles, Delayed cranial suture closure, Microcephaly ORPHA:2511
Thanatophoric Dysplasia
Intrauterine growth retardation, Hydrocephalus, Disproportionate short-limb short stature, Ventri... ORPHA:2655
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Overweight, Dilated third ventricle, Hydrocephalus, Head-banging, Hematochezia, Self-injurious be... OMIM:619575
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Amoebiasis Due To Free-Living Amoebae
Restlessness, Ataxia, Abnormal cerebrospinal fluid morphology, CSF lymphocytic pleiocytosis, Abno... ORPHA:68
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Large fontanelles, Flat acetabular roof, Hypertension, Wormian bones, ... OMIM:613320
Meckel Syndrome, Type 3
Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Hydrocephalus, B... OMIM:607361
1Q21.1 Microdeletion Syndrome
Microcephaly, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Depression, Attention defi... ORPHA:250989
Coffin-Siris Syndrome 6
Wormian bones, Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Ataxia, Microcephaly, Splenomegaly, Concentric hypertrophic cardiomyopathy, Increas... OMIM:252010
Encephalitis Lethargica
Lethargy, Increased CSF protein concentration, Bradycardia ORPHA:83600
Marburg Hemorrhagic Fever
Anorexia, Lethargy, Internal hemorrhage, Abnormal bleeding, Excessive bleeding after a venipunctu... ORPHA:99826
Pyruvate Carboxylase Deficiency
Hypoglycemia, Increased CSF alanine concentration, Increased CSF citrulline concentration, Increa... ORPHA:3008
Nephronophthisis 18
Hypertension, Hydrocephalus, Portal fibrosis, Cholestasis OMIM:615862
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Cerebral hemorrhage, Knee contracture, Subdural hemorrhage, Dysphagia, Joint contracture of the hand OMIM:620278
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus, Wormian bones, Coronal craniosynostosis, Orbital cran... OMIM:112240
Emanuel Syndrome
Ventriculomegaly, Congenital hip dislocation, Truncus arteriosus, Microcephaly, Cryptorchidism, P... OMIM:609029
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive heart failure, Adrenal pheochromoc... ORPHA:29072
Nasu-Hakola Disease
Hydrocephalus, Disinhibition, Ventriculomegaly ORPHA:2770
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Intrauterine growth retardation, Hypoglycemia, Ventriculomegaly OMIM:619355
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Secondary microcephaly, Hypertrophic car... OMIM:612938
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Anterior pituitary hypoplasia, Reduced circulating prolactin concentration, Jaundice, Prolonged n... OMIM:613038
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arteriovenous malformation, Arrhyth... ORPHA:60040
Basilicata-Akhtar Syndrome
Ventriculomegaly, Neonatal hypoglycemia OMIM:301032
Cole-Carpenter Syndrome 2
Wide cranial sutures, Hydrocephalus, Lambdoidal craniosynostosis, Wormian bones, Coronal craniosy... OMIM:616294
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... ORPHA:90307
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Potocki-Shaffer Syndrome
Wormian bones OMIM:601224
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Wormian bones, Microcephaly OMIM:259410
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Failure to thrive, Ventriculomegaly OMIM:616430
Acth Deficiency, Isolated
Fasting hypoglycemia OMIM:201400
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Hydrocephalus, Microcephaly OMIM:614219
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Jaundice, Congestive heart failure, Cholestasis, Cirrhosis, Let... OMIM:617156
Hereditary Sensory And Autonomic Neuropathy Type 2
Wormian bones, Abnormality of the knee, Abnormality of the ankle ORPHA:970
Osteogenesis Imperfecta
Osteoarthritis, Loss of ambulation, Dislocated radial head, Ataxia, Gait disturbance, Aortic regu... ORPHA:666
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Abnormality of the liver, Supraventricular tachyc... ORPHA:97214
Neonatal Lupus Erythematosus
Abnormal bleeding, Hepatomegaly, Prolonged QT interval, Heart block, Splenomegaly, Hydrocephalus,... ORPHA:398124
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Recurrent hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:79644
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Microcephaly, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Heart ... ORPHA:163979
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microcephaly, Intraventricular hemorrhage, Hydrocephalus, Hydrocele testis, Ventriculomegaly OMIM:613603
Hypothyroidism, Congenital, Nongoitrous, 2
Large posterior fontanelle, Bradycardia, Ectopic thyroid, Lethargy, Thyroid hypoplasia, Goiter OMIM:218700
Cholera
Tachycardia, Hypovolemic shock, Stroke, Hypotension, Lethargy ORPHA:173
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Short stature ORPHA:1861
Methylmalonic Aciduria, Cbla Type
Lethargy, Failure to thrive, Hepatomegaly OMIM:251100
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Splenomegaly, Hydrocephalus, Congestive heart failure ORPHA:163596
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Hypoglycemia OMIM:620300
Sifrim-Hitz-Weiss Syndrome
Cryptorchidism, Patent ductus arteriosus, Flat acetabular roof, Coarctation of aorta, Fused cervi... OMIM:617159
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Cachexia, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, S... ORPHA:109
Intellectual Developmental Disorder, Autosomal Dominant 70
Microcephaly, Hydrocephalus, Failure to thrive, Retinal telangiectasia OMIM:620157
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypoglycemic seizures ORPHA:199296
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Ataxia, Hydrocephalus, Inappropriate laughter, Difficulty walking, Agenesis of ... OMIM:618476
Grant Syndrome
Joint dislocation, Wormian bones, Large fontanelles ORPHA:2097
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus ORPHA:163966
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Wormian bones, Waddling gait ORPHA:2788
Tempi Syndrome
Intracranial hemorrhage, Telangiectasia ORPHA:284227
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Ataxia, Jaundice, Hepatitis, Hepatic necro... ORPHA:90062
Fanconi-Bickel Syndrome
Diabetes mellitus, Impaired glucose tolerance, Growth delay, Fasting hypoglycemia, Glycosuria, Po... ORPHA:2088
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Lenz-Majewski Hyperostotic Dwarfism
Prominent scalp veins, Ventriculomegaly, Anterior pituitary hypoplasia, Microcephaly, Cryptorchid... OMIM:151050
Apert Syndrome
Ventriculomegaly, Overriding aorta, Limited elbow movement, Sagittal craniosynostosis, Craniosyno... OMIM:101200
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Encephalocele, Failure to thrive, Portal hypertension, Congenital he... ORPHA:974
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Genu recurvatum, Venous insufficiency, Splenomeg... ORPHA:2969
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Lateral ventricle dilatation, Neonatal hypoglycemia, Increased C... ORPHA:565624
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... OMIM:171300
Galactokinase Deficiency
Hyperinsulinemia, Hypoglycemia ORPHA:79237
White-Sutton Syndrome
Waddling gait, Hyperactivity, Aggressive behavior, Microcephaly, Patent ductus arteriosus, Obesit... OMIM:616364
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Holoprosencephaly, Agenesis of corpus ca... ORPHA:77298
Monosomy 18Q
Left-to-right shunt, Microcephaly, Bilateral cryptorchidism, Left aortic arch with right descendi... ORPHA:1600
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Microcephaly, Wormian bones, Hypertrophic cardiomyopathy, Ventriculome... OMIM:616897
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy, Failure to thrive OMIM:210210
47,Xyy Syndrome
Hyperactivity, Impulsivity, Cryptorchidism, Increased circulating gonadotropin level, Hydrocephal... ORPHA:8
Biotinidase Deficiency
Splenomegaly, Lethargy, Ataxia, Hepatomegaly OMIM:253260
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive ORPHA:1895
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Dilation of Virchow-Robin spaces, Camptodactyly of finger, Supernumerary nipple, Cryptorchidism, ... OMIM:619951
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callos... OMIM:615219
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Lethargy OMIM:277410
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Subarachnoid hemorrhage OMIM:243700
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Short stature, Ketotic hypoglycemia, Postnatal growth retardation, Recurrent hypoglycemia, Fastin... ORPHA:79240
Stankiewicz-Isidor Syndrome
Hyperactivity, Cryptorchidism, Patent ductus arteriosus, Pineal cyst, Truncus arteriosus OMIM:617516
Desmosterolosis
Failure to thrive, Microcephaly, Patent ductus arteriosus, Partial agenesis of the corpus callosu... OMIM:602398
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Postnatal growth retardation, Intrauterine growth retardation, Hypoglycemia OMIM:617093
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia ORPHA:2126
Trisomy 1Q
Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Agenesis of cor... ORPHA:261344
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Microcephaly, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malformation... OMIM:617281
Craniosynostosis 2
Craniosynostosis, Unicoronal synostosis, Metopic synostosis, Wormian bones, Bicoronal synostosis OMIM:604757
D-Glyceric Aciduria
Growth delay, Hypoglycemia OMIM:220120
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Congestive heart failure, Large fontanelles, Wormian bones, Pulmonary ... OMIM:166210
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Wide anterior fontanel, Abnormality of the elbow, Flat acetabular roof, Delayed patellar ossifica... ORPHA:163649
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Sple... OMIM:232300
Muenke Syndrome
Carpal synostosis, Hydrocephalus, Coronal craniosynostosis, Tarsal synostosis ORPHA:53271
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Hepatitis, Progressive cerebellar ataxia, Lethargy, Failure to thrive, Spastic gait ORPHA:415
Griscelli Syndrome
Encephalocele, Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Hydrocephalus, Hepatitis ORPHA:381
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Hypoglycemia, Glycosuria OMIM:231680
Kyphoscoliotic Ehlers-Danlos Syndrome
Congenital hip dislocation, Cerebral hemorrhage, Dislocated wrist, Subdural hemorrhage, Arterial ... ORPHA:536545
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum, Progressive microcephaly, Microcephaly OMIM:615249
Riddle Syndrome
Conjunctival telangiectasia, Ataxia, Microcephaly, Intraventricular hemorrhage, Telangiectasia, W... ORPHA:420741
Crouzon Syndrome
Hydrocephalus, Multiple suture craniosynostosis ORPHA:207
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Ataxia, Hydrocephalus, Dysmetria, Hepatosplenomegaly, Telangiectasia,... ORPHA:93400
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Craniosynostosis, Aggressive behavior, Cryptorchidism, Patent ductu... ORPHA:96121
Glycogen Storage Disease Ia
Short stature, Hypoglycemia, Growth delay, Fasting hypoglycemia, Delayed puberty OMIM:232200
Insulin-Resistance Syndrome Type B
Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem... ORPHA:2298
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Growth delay, Hydrocephalus, Hypoglycemia, Short stature OMIM:616007
Tetrasomy 15Q26
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation OMIM:614846
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Sclerotic cranial sutures, Atrioventricular block, Coarctation of aorta, Polycystic ... ORPHA:371428
Albers-Schönberg Osteopetrosis
Joint dislocation, Osteoarthritis, Hydrocephalus, Genu valgum, Arthritis ORPHA:53
Silver-Russell Syndrome
Short stature, Postnatal growth retardation, Insulin resistance, Recurrent hypoglycemia, Intraute... ORPHA:813
Dextrocardia
Abnormal EKG, Congenital hip dislocation, Abnormality of the spleen, Hydrocephalus, Abnormality o... ORPHA:1666
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Tortuous cerebral arteries, Microcephaly, Hip dislocation, Wormian bones, D... OMIM:616603
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Craniosynostosis, Splenomegaly, Hydrocephalus, Failure to thrive OMIM:259700
Achondroplasia
Hip joint hypermobility, Wide anterior fontanel, Hydrocephalus, Obesity, Flat acetabular roof, Kn... ORPHA:15
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Crouzon Syndrome
Sagittal craniosynostosis, Hydrocephalus, Lambdoidal craniosynostosis, Coronal craniosynostosis, ... OMIM:123500
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Lethal short-limbed short stature, Disproportionate short-limb sho... OMIM:187600
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Osteoarthritis, Intracranial hemorrhage, Limitation of movement at ankles,... ORPHA:740
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Growth delay, Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:620156
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia OMIM:246450
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Cryptorchidism, Hydrocephalus, Gait disturbance, Agenesis of corpus callosu... ORPHA:1812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Timothy Syndrome
Hypoglycemia OMIM:601005
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Short stature, Insulin resistance, Fasting hyperinsulinemia, Insulin-... ORPHA:769
Tetrasomy 5P
Congestive heart failure, Wide anterior fontanel, Hydrocephalus, Heart murmur, Pulmonary arterial... ORPHA:3309
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Abnormal intrahepatic bile duct morphology, Intracranial hemorrhage, Hy... ORPHA:363618
Lysinuric Protein Intolerance
Abnormal bleeding, Hepatomegaly, Decreased response to growth hormone stimulation test, Hepatospl... ORPHA:470
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Hepatic steatosis, Restrictive behavi... OMIM:619475
Joubert Syndrome With Renal Defect
Encephalocele, Ataxia, Hydrocephalus, Gait disturbance, Agenesis of corpus callosum ORPHA:220497
Brachydactyly, Type B1
Joint contracture of the hand, Vertebral fusion, Wide anterior fontanel, Delayed cranial suture c... OMIM:113000
Desmosterolosis
Microcephaly, Splenomegaly, Patent ductus arteriosus, Hydrocephalus, Anomalous pulmonary venous r... ORPHA:35107
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Short stature, Hypoglycemia, Growth delay, Fasting hypoglycemia, Delayed puberty ORPHA:264580
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Knee flexion contracture, Vascular ring, Mitral regurgitation, Ventriculomegaly OMIM:603387
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Hydrocephalus, Telangiectasia, Tetralogy of Fallot, Agenesis of corpus ... OMIM:612582
Hydrolethalus
Anencephaly, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:2189
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia OMIM:614736
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Vertebral artery hypoplasia, Block vertebrae, Unilateral vertebral artery hypop... OMIM:613686
Osteogenesis Imperfecta, Type V
Wormian bones, Anterior radial head dislocation, Limited pronation/supination of forearm OMIM:610967
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Neonatal hypoglycemia, Lateral ventricle dilatation, Intrauterine growt... ORPHA:572798
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Microcephaly, Partial agenesis o... OMIM:619895
Distal Triplication 15Q
Craniosynostosis, Large for gestational age, Patent ductus arteriosus, Hypoplastic aortic arch, H... ORPHA:314588
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Hyperparathyroidism, Wide cranial sutures, Patent ductus arteriosus,... OMIM:618188
Cockayne Syndrome Type 3
Hepatomegaly, Splenomegaly, Unsteady gait, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopath... ORPHA:90324
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Increased CSF lactate, Growth delay, Intrauterine growth retardation, Neonatal hypogl... OMIM:616271
Autosomal Recessive Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Delayed cranial suture closure, Microcephaly ORPHA:93324
Bachmann-Bupp Syndrome
Hypoglycemia OMIM:619075
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... ORPHA:137667
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly OMIM:614195
Ulna Hypoplasia-Intellectual Disability Syndrome
Elbow dislocation, Large fontanelles, Delayed cranial suture closure ORPHA:2249
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Ventriculomegaly, Neonatal hypoglycemia ORPHA:457485
Trisomy 17P
Prominent metopic ridge, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Aortic valve sten... ORPHA:261290
Curry-Jones Syndrome
Ventriculomegaly, Unicoronal synostosis, Lipomyelomeningocele, Wormian bones, Occipital meningoce... OMIM:601707
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis, Microcephaly, Subdural hemorrhage, Aggressive behavior OMIM:619714
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Glycerol Kinase Deficiency
Cryptorchidism, Small for gestational age, Lethargy, Chronic pancreatitis OMIM:307030
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Vertebral fusion ORPHA:377
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage OMIM:618886
Hemangioblastoma
Hydrocephalus ORPHA:252054
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Intrauterine growth retardation, Hypoglycemia, Short stature OMIM:618005
3C Syndrome
Ventriculomegaly, Hydrocephalus, Abnormality of the fontanelles or cranial sutures, Pulmonic sten... ORPHA:7
Thanatophoric Dysplasia Type 1
Wide anterior fontanel, Patent ductus arteriosus, Abnormal sacroiliac joint morphology, Hydroceph... ORPHA:1860
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Grant Syndrome
Wormian bones OMIM:138930
De Barsy Syndrome
Congenital hip dislocation, Delayed closure of the anterior fontanelle, Cryptorchidism, Patent du... ORPHA:2962
Pontocerebellar Hypoplasia, Type 7
Ataxia, Cryptorchidism, Hydrocephalus, Choreoathetosis, Progressive microcephaly, Ventriculomegaly OMIM:614969
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Biotinidase Deficiency
Myelopathy, Lethargy, Ataxia ORPHA:79241
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Inability to walk, Partial agenesis of the corpus callosum, Genu valgum, Lateral ... ORPHA:300570
Walker-Warburg Syndrome
Ventriculomegaly, Microcephaly, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy... ORPHA:899
Sturge-Weber Syndrome
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph... ORPHA:3205
Holocarboxylase Synthetase Deficiency
Lethargy OMIM:253270
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hepatomegaly, Jaundice, Cirrhosis, Lethargy, Failure to thrive, Hepa... OMIM:229600
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia OMIM:611126
Joubert Syndrome With Ocular Defect
Encephalocele, Ataxia, Hydrocephalus, Gait disturbance, Agenesis of corpus callosum ORPHA:220493
Pseudotrisomy 13 Syndrome
Encephalocele, Microcephaly, Cryptorchidism, Hydrocephalus, Coarctation of aorta, Holoprosencepha... OMIM:264480
Apert Syndrome
Hydrocephalus, Large fontanelles, Cervical C5/C6 vertebrae fusion, Ovarian neoplasm, Hypertension... ORPHA:87
Fanconi Anemia, Complementation Group D2
Small for gestational age, Microcephaly, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus,... OMIM:227646
Reni Syndrome
Hypoglycemia OMIM:617575
Glucocorticoid Deficiency 1
Recurrent hypoglycemia OMIM:202200
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Hydrocephalus, L... OMIM:612863
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Hydrocephalus, Short stature, Ventriculomegaly OMIM:272200
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Failure to thrive in infancy, Decreased response to growth hormone stimula... ORPHA:529962
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Wide cranial sutures, Enlargement of the wrists, Difficulty walking, S... ORPHA:289157
1P36 Deletion Syndrome
Abnormality of the spleen, Abnormality of the liver, Hepatic steatosis, Abnormal repetitive manne... ORPHA:1606
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension, Testicular adrenal rest tumor, Polycystic ovaries ORPHA:90795
Kufor-Rakeb Syndrome
Bradykinesia, Apathy, Gait disturbance, Difficulty walking, Dysphagia, Lethargy ORPHA:306674
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia OMIM:617049
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation, Hypoglycemia ORPHA:457279
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Cryptorchidism, Abnormal re... OMIM:615873
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Obesity ORPHA:2180
X-Linked Dominant Chondrodysplasia Punctata
Severe postnatal growth retardation, Short stature, Neonatal hypoglycemia ORPHA:35173
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Small for gestational age, Microcephaly, Cryptorchidism, Hydrocephalus, Pulmoni... OMIM:257300
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Pituitary adenom... ORPHA:805
Primary Ciliary Dyskinesia
Ventriculomegaly, Asplenia, Hydrocephalus, Anomalous pulmonary venous return, Transposition of th... ORPHA:244
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Hydrocephalus, Metopic synostosis, Failu... OMIM:608091
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Wide anterior fontanel OMIM:601356
Hennekam-Beemer Syndrome
Ventriculomegaly, Telangiectasia of the skin, Camptodactyly of finger, Microcephaly, Hypotension,... ORPHA:2135
Congenital Disorder Of Glycosylation, Type Iie
Growth delay, Intrauterine growth retardation, Hypoglycemia, Short stature OMIM:608779
Hellp Syndrome
Cerebral hemorrhage, Increased body weight, Prolonged prothrombin time, Hypotension, Internal hem... ORPHA:244242
Arachnoiditis
Hydrocephalus ORPHA:137817
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones ORPHA:166277
Congenital Disorder Of Glycosylation, Type It
Growth delay, Hypoglycemia, Short stature, Delayed puberty OMIM:614921
Fanconi Anemia, Complementation Group R
Growth delay, Hydrocephalus OMIM:617244
Witteveen-Kolk Syndrome
Hyperactivity, Unilateral cryptorchidism, Decreased response to growth hormone stimulation test, ... OMIM:613406
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cerebral hemorrhage, Microcephaly, Cryptorchidism, Patent ductus arteriosus, Unsteady gait, Loss ... OMIM:616682
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation OMIM:609069
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Ventriculom... ORPHA:1647
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Jaundice OMIM:615751
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Occipital encephalocele, Ataxia, Portal hypertension, Congenital hepatic fibrosis, ... ORPHA:1454
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... OMIM:609049
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Hypoplasia of the thymus, Hypoparathyroidism, Bipolar affective ... ORPHA:567
Atelis Syndrome 2
Vitreous hemorrhage, Remnants of the hyaloid vascular system OMIM:620185
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Hydrocephalus, Disproportionate short stature, Neonatal death OMIM:616482
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia, Ventriculomegaly OMIM:620224
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Craniosynostosis, Cryptorchidism, Hydrocephalus, Abnormality of the pancreas, Hypertension ORPHA:1555
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Hydrocephalus, Cholestasis, Weight loss, Portal fibrosis, Hepat... OMIM:619377
Leigh Syndrome
Growth delay, Intrauterine growth retardation, Hypoglycemia, Increased CSF lactate ORPHA:506
Spondyloepimetaphyseal Dysplasia, Krakow Type
Ulnar deviation of the wrist, Patent ductus arteriosus, Hydrocephalus, Knee flexion contracture, ... OMIM:618162
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Dandy-Walker malformation, Hypoketotic hypoglycemia ORPHA:228305
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia OMIM:617600
Trisomy 8P
Dandy-Walker malformation, Microcephaly, Cryptorchidism, Hydrocephalus, Metopic suture patent to ... ORPHA:264450
Lateral Meningocele Syndrome
Vertebral fusion, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Meningocele, Wormian b... OMIM:130720
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Cachexia, Microcephaly, Hydrocephalus, Arteriosclerosis ORPHA:220295
Kabuki Syndrome 2
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Neonatal hypoglycemia OMIM:300867
Pycnodysostosis
Persistent open anterior fontanelle, Decreased response to growth hormone stimulation test, Overw... ORPHA:763
Bruck Syndrome 2
Wormian bones, Pterygium, Elbow flexion contracture, Knee flexion contracture OMIM:609220
Osteogenesis Imperfecta, Type Iii
Wormian bones, Pulmonary arterial hypertension, Wide anterior fontanel, Protrusio acetabuli OMIM:259420
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Postnatal growth retardation, Fasting hypoglycemia, Glycosuria OMIM:227810
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum,... OMIM:613001
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... ORPHA:2839
Posterior Urethral Valve
Lethargy, Hypertension ORPHA:93110
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent metopic ridge, Hyperactivity, Hydrocephalus, Hypoplastic aortic arch, Agenesis of corpu... ORPHA:457284
Immunodeficiency 49
Wormian bones, Pulmonary artery stenosis, Agenesis of corpus callosum OMIM:617237
15Q Overgrowth Syndrome
Tricuspid regurgitation, Contracture of the proximal interphalangeal joint of the 2nd finger, Cra... ORPHA:314585
Hereditary Fructose Intolerance
Lethargy, Jaundice, Hepatomegaly ORPHA:469
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Craniosynostosis, Microcephaly, Cryptorchidism, Wide anterior fontanel, Hydrocep... OMIM:182212
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotransposition o... OMIM:306955
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Microcephaly, Cryptorchidism, Arteria lusoria, Obesity, Heart murmur, Diffi... OMIM:618653
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Fanconi Anemia, Complementation Group B
Growth delay, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly OMIM:300514
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Holoprosencephaly, Transposition of the gre... OMIM:253800
Baraitser-Winter Cerebrofrontofacial Syndrome
Prominent metopic ridge, Transient ischemic attack, Microcephaly, Large fontanelles, Osteochondro... ORPHA:2995
Rabin-Pappas Syndrome
Failure to thrive in infancy, Microcephaly, Retinal telangiectasia, Hydrocephalus, Obesity OMIM:620155
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage, Hepatosplenomegaly OMIM:301081
Osteogenesis Imperfecta, Type Ix
Wormian bones OMIM:259440
Aymé-Gripp Syndrome
Prominent metopic ridge, Pericarditis, Ventriculomegaly, Craniosynostosis, Cryptorchidism, Patent... ORPHA:1272
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Severe short stature, Neonatal short-limb short stature, Hydrocephalus OMIM:224400
Hallermann-Streiff Syndrome
Hyperactivity, Small for gestational age, Spina bifida, Microcephaly, Cryptorchidism, Telangiecta... OMIM:234100
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Wide anterior fontanel, Hydrocephalus, Humeroradial synostosis, Lambdoidal craniosynostosis, Coro... OMIM:207410
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Craniosynostosis, Hydrocephalus, Hypertension, Aortic root aneurys... OMIM:616914
Beare-Stevenson Cutis Gyrata Syndrome
Craniosynostosis, Hydrocephalus, Hypertension, Agenesis of corpus callosum, Limited elbow extensi... OMIM:123790
Mucopolysaccharidosis Type 3
Hepatomegaly, Hyperactivity, Ataxia, Aggressive behavior, Splenomegaly, Hypersexuality, Hydroceph... ORPHA:581
Osteogenesis Imperfecta, Type Xvi
Wormian bones, Prolonged bleeding time, Bruising susceptibility, Small for gestational age OMIM:616229
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:134
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia ORPHA:26791
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Growth delay, Ventriculomegaly, Hypoglycemia, Neonatal hypoglycemia OMIM:619418
Sotos Syndrome
Glucose intolerance, Ventriculomegaly, Neonatal hypoglycemia OMIM:117550
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia, Short stature OMIM:233600
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive, Hydrocephalus OMIM:602361
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia, Ventriculomegaly OMIM:614501
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Heart block, Hydrocephalus, Hepatic calcification, Agenesis of corpus callosum, Car... ORPHA:228308
Genitopalatocardiac Syndrome
Microcephaly, Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder, Hydr... ORPHA:2075
Dilated Cardiomyopathy With Ataxia
Growth delay, Intrauterine growth retardation, Neonatal hypoglycemia ORPHA:66634
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Growth delay, Hypoglycemia OMIM:251880
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Tricuspid regurgitation, Knee contracture, Normal pressure hydroc... OMIM:620351
Norrie Disease
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... ORPHA:649
Meckel Syndrome, Type 6
Absent gallbladder, Occipital encephalocele, Hydrocephalus, Anencephaly, Cystic liver disease, Bi... OMIM:612284
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Arter... OMIM:613795
Pfeiffer Syndrome
Coronal craniosynostosis, Humeroradial synostosis, Elbow ankylosis, Hydrocephalus OMIM:101600
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Broad-based gait, Cachexia, Abnormality of the spleen, Splenome... ORPHA:2072
Pituitary Apoplexy
Hypoglycemia, Abnormal cerebrospinal fluid morphology ORPHA:95613
Opitz-Kaveggia Syndrome
Delayed closure of the anterior fontanelle, Cryptorchidism, Partial agenesis of the corpus callos... OMIM:305450
Osteogenesis Imperfecta, Type Xiii
Wormian bones, Dislocated radial head, Limitation of knee mobility, Decreased body weight OMIM:614856
3-Methylglutaconic Aciduria Type 7
Growth delay, Neonatal hypoglycemia ORPHA:445038
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Wide cranial sutures, Protrusio acetabuli, Interphalangeal joint contracture of ... OMIM:259600
Hurler Syndrome
Hepatomegaly, Angina pectoris, Camptodactyly of finger, Splenomegaly, Hydrocephalus, Abnormality ... ORPHA:93473
3-Methylglutaconic Aciduria, Type Viii
Neonatal hypoglycemia, Increased CSF lactate, Growth delay, Neonatal death, Ventriculomegaly OMIM:617248
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Microcephaly, Cryptorchidism, Hydrocephalus, Pterygium ORPHA:1865
D-Bifunctional Protein Deficiency
Hepatomegaly, Ventriculomegaly, Splenomegaly, Large fontanelles, Cholestasis, Bile duct prolifera... OMIM:261515
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Short stature ORPHA:1064
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Microcephaly, Repetitive compulsive behavior, Gait ataxia, Pineal cyst, Right a... ORPHA:513456
Otopalatodigital Syndrome Type 2
Encephalocele, Failure to thrive, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, ... ORPHA:90652
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia, Vaginal hydrocele ORPHA:2119
Neurooculorenal Syndrome
Postnatal growth retardation, Aqueductal stenosis, Hydrocephalus, Recurrent hypoglycemia, Ventric... OMIM:620305
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... ORPHA:95494
Holoprosencephaly
Encephalocele, Diabetes mellitus, Hypoglycemia, Hydrocephalus, Spinal dysraphism, Holoprosencepha... ORPHA:2162
Gapo Syndrome
Hepatomegaly, Prominent scalp veins, Ventriculomegaly, Delayed closure of the anterior fontanelle... OMIM:230740
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemia, Hypoglycemic seizures ORPHA:480864
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Craniosynostosis, Hydrocephalus, Multiple joint dislocation, Hip dislocation, Elbow flexion contr... OMIM:245600
Monosomy 9Q22.3
Hyperactivity, Ovarian fibroma, Large for gestational age, Hydrocephalus, Metopic synostosis, Ven... ORPHA:77301
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Wide cranial sutures, Limited elbow movement, Delayed closure of the... OMIM:614008
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Abnormality of the spleen, Abnormality of the liver, Hydrocephalus ORPHA:1834
Mend Syndrome
Hyperactivity, Aggressive behavior, Cryptorchidism, Wide anterior fontanel, Hydrocephalus, Aortic... ORPHA:401973
Orofaciodigital Syndrome I
Microcephaly, Pancreatic cysts, Vascular dilatation, Myelomeningocele, Hydrocephalus, Ovarian cys... OMIM:311200
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Camptodactyly of finger, Craniosynostosis, Microcephaly, Elbow dislo... ORPHA:2462
Marshall-Smith Syndrome
Craniosynostosis, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Hydrocephal... OMIM:602535
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydrocephalus OMIM:314390
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hydrocephalus, Hepatic calcification, Cardiomyopathy, Arrhythmia, Agenesis of corpu... ORPHA:157
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, CSF pleocytosis, Hypertension, Gait disturbance... ORPHA:139417
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Microcephal... OMIM:610829
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ataxia, Left ventricular noncompaction cardiomyopathy, Impulsivity, Aggressive behavior, Cryptorc... OMIM:300967
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Jaundice, Hypertension, Stroke, Budd-Chiari syndrome, ... ORPHA:447
Gaucher Disease
Abnormal bleeding, Hepatomegaly, Joint dislocation, Ataxia, Splenomegaly, Osteoarthritis, Hydroce... ORPHA:355
Dubowitz Syndrome
Hypoparathyroidism, Craniosynostosis, Microcephaly, Cryptorchidism, Wide anterior fontanel, Hydro... ORPHA:235
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Adrenal hyperplasia, Abnormal ovarian morphology, Abnormality of the wrist, Elbow ankylosis, Elev... ORPHA:95699
Osteogenesis Imperfecta, Type Xii
Wormian bones OMIM:613849
Osteogenesis Imperfecta, Type Xxii
Wormian bones OMIM:619795
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Hypoplastic nipples, Spina bifida occulta ORPHA:2437
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Postnatal growth retardation, Insulin resistance, Severe intrauterine growth retardation, Fasting... ORPHA:96182
Joubert Syndrome
Encephalocele, Hydrocephalus, Ataxia, Gait disturbance ORPHA:475
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Anterior pitu... ORPHA:67045
Diamond-Blackfan Anemia
Radial artery aplasia, Small for gestational age, Microcephaly, Coarctation of aorta, Lethargy ORPHA:124
Cdags Syndrome
Sagittal craniosynostosis, Large fontanelles, Lambdoidal craniosynostosis, Coronal craniosynostos... OMIM:603116
Osteopathia Striata-Cranial Sclerosis Syndrome
Large fontanelles, Coarctation of aorta, Aortic valve stenosis, Spina bifida occulta, Delayed cra... ORPHA:2780
Holoprosencephaly 1
Ethmocephaly, Hypoglycemia, Short stature, Alobar holoprosencephaly OMIM:236100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:613150
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Prolonged QT interval, Ataxia, Abnormal T-wave, ST segment depression, Hypoten... ORPHA:466650
Smith-Lemli-Opitz Syndrome
Partial agenesis of the corpus callosum, Holoprosencephaly, Hepatic steatosis, Self-mutilation, D... OMIM:270400
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Congenital Disorder Of Glycosylation, Type Iit
Microcephaly, Pineal cyst OMIM:618885
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Congenital hip dislocation, Absent nipple, Patent ductus arteriosus, Hydrocephalus, Cubitus valgus OMIM:104350
Holoprosencephaly 7
Alobar holoprosencephaly, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, P... OMIM:610828
Osteopathia Striata With Cranial Sclerosis
Failure to thrive, Delayed closure of the anterior fontanelle, Patent ductus arteriosus, Partial ... OMIM:300373
Spondylometaphyseal Dysplasia, Pagnamenta Type
Wormian bones OMIM:619638
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus, Genu valgum, Hepatosplenomegaly OMIM:259710
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Growth delay, Recurrent hypoglycemia, Hypoglycemia, Short stature OMIM:256810
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Hydrocephalus, Tongue thrusting, Pulmonic stenosis, Cubitus valgus, Hypertrophic ca... OMIM:115150
Bruck Syndrome
Wormian bones, Pterygium ORPHA:2771
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Prominent scalp veins, Agenesis of pineal gland, Subluxation of the small join... ORPHA:536471
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617822
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Arterial tortuosity, Patent ductus arteriosus, A... OMIM:619472
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thoracic aortic aneurysm, Phalangeal dislocation, Large joint dislocations, Craniosynostosis, Hyd... ORPHA:536467
Glycogen Storage Disease Ib
Hypoglycemia, Short stature, Delayed puberty OMIM:232220
Marbach-Rustad Progeroid Syndrome
Prominent superficial veins, Microcephaly, Right bundle branch block, Wormian bones, Pulmonary in... OMIM:619322
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... ORPHA:63259
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, Microcephaly, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, H... OMIM:613776
Rubinstein-Taybi Syndrome 1
Bilateral cryptorchidism, Aortic isthmus hypoplasia, Hepatic hemangioma, Spina bifida occulta, Ag... OMIM:180849
Schwartz-Jampel Syndrome
Hip contracture, Protrusio acetabuli, Cachexia, Microcephaly, Elbow dislocation, Genu valgum, Pul... ORPHA:800
Rhombencephalosynapsis
Hydrocephalus, Ataxia, Ventriculomegaly ORPHA:59315
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Dilated fourth ventricle, Ventriculomegaly, Camptodact... OMIM:249000
Multiple Sulfatase Deficiency
Hydrocephalus, Short stature ORPHA:585
Acrodysostosis 1 With Or Without Hormone Resistance
Mild postnatal growth retardation, Short stature, Hydrocephalus, Disproportionate short-limb shor... OMIM:101800
Mucopolysaccharidosis, Type Ii
Mild short stature, Hydrocephalus, Severe short stature, Short stature OMIM:309900
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Failure to thrive, Prominent metopic ridge, Microcephaly, Elbow dislocation, Cry... OMIM:210710
Thakker-Donnai Syndrome
Communicating hydrocephalus, Transposition of the great arteries, Cervical C2/C3 vertebral fusion... ORPHA:1780
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Lateral Meningocele Syndrome
Wormian bones, Cryptorchidism, Prominent metopic ridge, Meningocele ORPHA:2789
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Growth delay, Hypoglycemia, Increased CSF lactate ORPHA:17
Mend Syndrome
Hyperactivity, Cryptorchidism, Hydrocephalus, Small anterior fontanelle, Aortic valve stenosis, F... OMIM:300960
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Cardiomyopat... OMIM:607014
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Short stature ORPHA:2720
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Microcephaly, Junctional ectopic tachycardia, Hydrocephalus, Colpocephaly, Hist... OMIM:309801
Visual Impairment And Progressive Phthisis Bulbi
Phthisis bulbi OMIM:618283
Osteopetrosis, Autosomal Recessive 5
Short stature, Hydrocephalus, Growth delay, Stillbirth, Ventriculomegaly OMIM:259720
Cole-Carpenter Syndrome
Communicating hydrocephalus, Intrauterine growth retardation, Short stature ORPHA:2050
Culler-Jones Syndrome
Hypopituitarism, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism OMIM:615849
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir... ORPHA:637
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly, Polysplenia, Tetralogy of Fallot ORPHA:1335
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia OMIM:618329
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Ataxia ORPHA:2318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Microcephaly, Cryptorchidism, Meningoencephalocele, Hy... OMIM:236670
Isotretinoin-Like Syndrome
Microcephaly, Patent ductus arteriosus, Hydrocephalus, Abnormal aortic arch morphology, Conotrunc... ORPHA:2306
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia OMIM:616878
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Wormian bones, Bruising susceptibility, Joint subluxation, Hip dislocation OMIM:617821
Mucopolysaccharidosis, Type Vii
Postnatal growth retardation, Hydrocephalus, Severe short stature, Short stature OMIM:253220
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Athetosis, Hydrocephalus, Delayed ossification of carpal bones OMIM:239300
Neutral Lipid Storage Myopathy
Hepatomegaly, Chronic pancreatitis, Congestive heart failure, Obesity, Pineal cyst, Cardiomyopath... ORPHA:98908
Jacobsen Syndrome
Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Annular pancreas, Failure to thrive OMIM:147791
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Hydrocephalus, Genu valgum, Cardiomyopathy, ... OMIM:253200
Meckel Syndrome
Accessory spleen, Encephalocele, Pancreatic fibrosis, Microcephaly, Pancreatic cysts, Cryptorchid... ORPHA:564
Ogden Syndrome
Large posterior fontanelle, Congenital hip dislocation, Microvesicular hepatic steatosis, Ventric... OMIM:300855
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Arthropathy, Patent ductus arteriosus, Large fontanelles, Arthritis, Wormian bones OMIM:259100
Antley-Bixler Syndrome
Delayed cranial suture closure, Elbow ankylosis, Camptodactyly of finger, Craniosynostosis ORPHA:83
Coccidioidomycosis
Pericarditis, Abnormality of the spleen, Peritonitis, Vasculitis, Hydrocephalus, CSF pleocytosis,... ORPHA:228123
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Cryptorchidism, Coarctation of aorta, Attention deficit hyperactivity disorder, Difficulty walkin... OMIM:618748
Cardiofaciocutaneous Syndrome
Failure to thrive in infancy, Cryptorchidism, Hydrocephalus, Genu valgum, Pulmonic stenosis, Cubi... ORPHA:1340
Icf Syndrome
Communicating hydrocephalus, Short stature ORPHA:2268
Craniometadiaphyseal Dysplasia
Wide anterior fontanel, Genu valgum, Wormian bones, Cubitus valgus, Genu varum OMIM:269300
Hereditary Cryohydrocytosis With Reduced Stomatin
Postnatal growth retardation, Hypoglycorrhachia, Short stature, Communicating hydrocephalus ORPHA:168577
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:612651
Alg12-Cdg
Intrauterine growth retardation, Recurrent hypoglycemia, Ventriculomegaly ORPHA:79324
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Camptodactyly of finger, Delayed closure of the anterior fontanelle... OMIM:607872
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Pineoblastoma
Lethargy, Pinealoma ORPHA:251909
Peho Syndrome
Hydrocephalus, Ventriculomegaly, Microcephaly ORPHA:2836
Trisomy 10P
Absent gallbladder, Wide cranial sutures, Small for gestational age, Dysphagia, Primary microceph... ORPHA:171929
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Oculoectodermal Syndrome
Hyperactivity, Transient ischemic attack, Supernumerary nipple, Patent ductus arteriosus, Coarcta... OMIM:600268
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Hip dislocation OMIM:616507
Marden-Walker Syndrome
Camptodactyly of finger, Microcephaly, Hydrocephalus, Radioulnar synostosis, Attention deficit hy... ORPHA:2461
Leprechaunism
Postnatal growth retardation, Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglyce... ORPHA:508
Hajdu-Cheney Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Genu valgum, Crowded carpal bones, Wormi... OMIM:102500
Stromme Syndrome
Accessory spleen, Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:243605
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Postnatal growth retardation, Hydrocephalus, Dandy-Walker malfor... OMIM:605627
Lhermitte-Duclos Disease
Hydrocephalus, Ataxia, Ovarian neoplasm ORPHA:65285
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Septate vagina, Cryptor... OMIM:300166
Dysostosis, Stanescu Type
Wormian bones, Persistent open anterior fontanelle, Microcephaly ORPHA:1798
Premature Aging Syndrome, Penttinen Type
Prominent superficial veins, Flexion contracture of finger, Hyperextensibility of the knee, Wormi... OMIM:601812
Mandibuloacral Dysplasia With Type B Lipodystrophy
Wormian bones, Prominent superficial veins, Delayed cranial suture closure OMIM:608612
Orthostatic Hypotension 1
Neonatal hypoglycemia OMIM:223360
H Syndrome
Hydrocephalus, Diabetes mellitus, Short stature, Delayed puberty ORPHA:168569
Oculodentodigital Dysplasia, Autosomal Recessive
Wide cranial sutures, Failure to thrive, Large fontanelles OMIM:257850
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Inability to walk, Patent ductus arteriosus, Congestive hea... ORPHA:505248
Glycine Encephalopathy
Lethargy ORPHA:407
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Portal hypertension, Craniosynostosis, Microcephaly, Cryptorchidism, Patent duc... OMIM:620005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Baller-Gerold Syndrome
Bicoronal synostosis, Anomalous splenoportal venous system, Limited elbow movement, Sagittal cran... OMIM:218600
Fibrochondrogenesis 1
Widely patent coronal suture, Wide anterior fontanel, Joint contracture of the hand, Widely paten... OMIM:228520
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly, Neonatal death, Intrauterine growth retardation OMIM:269860
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Delayed cranial sutu... ORPHA:90349
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Ataxia OMIM:300232
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Hydro... OMIM:261740
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Neonatal death, Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia OMIM:124000
Kabuki Syndrome
Microcephaly, Cryptorchidism, Hydrocephalus, Hip dislocation, Obesity, Coarctation of aorta, Fail... ORPHA:2322
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures ORPHA:361
Schinzel-Giedion Midface Retraction Syndrome
Wormian bones, Splenopancreatic fusion, Metopic suture patent to nasal root, Hypoplastic nipples,... OMIM:269150
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Protrusio acetabuli, Craniosynostosis, Arterial tortuosity, Descending thor... OMIM:610168
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Laurin-Sandrow Syndrome
Cryptorchidism, Abnormality of the wrist, Hydrocephalus, Tarsal synostosis ORPHA:2378
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus OMIM:601499
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Hypoglycemia, Hypoglycemic seizures, Growth delay, Delayed puberty ORPHA:79259
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia OMIM:610768
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Delayed cranial suture closure ORPHA:1129
Fanconi Anemia
Spina bifida, Microcephaly, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Hip dislocat... ORPHA:84
Fontaine Progeroid Syndrome
Prominent superficial veins, Tricuspid regurgitation, Absent nipple, Small for gestational age, C... OMIM:612289
Mucopolysaccharidosis Type 1
Joint dislocation, Splenomegaly, Hydrocephalus, Congestive heart failure, Hypertrophic cardiomyop... ORPHA:579
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Genu valgum, Hypertension, Pheochromocytoma, Re... OMIM:162200
Alg9-Cdg
Hepatomegaly, Prominent metopic ridge, Tricuspid regurgitation, Delayed cranial suture closure, W... ORPHA:79328
Gaucher Disease, Type Iiic
Hepatomegaly, Splenomegaly, Hydrocephalus, Calcification of the aorta, Mitral stenosis OMIM:231005
Loeys-Dietz Syndrome 1
Craniosynostosis, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arterios... OMIM:609192
Microphthalmia With Limb Anomalies
Tarsal synostosis, Venous insufficiency, Cryptorchidism, Elbow dislocation, Hydrocephalus, Hip di... ORPHA:1106
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Hydrocephalus, Large fontanelles, Agenesis of corpus callosum, Elbow ankylosis, D... ORPHA:2658
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Hyperactivity, Ectopic posterior pituitary, Small for gestational ag... ORPHA:508488
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Small for gestational age, Delayed closure of the anterior fontanelle, Cry... OMIM:264090
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Microcephaly, Dysmetria, Pseudobulbar paralysis, Dysphagia ORPHA:98889
Deeah Syndrome
Intrauterine growth retardation, Extra-axial cerebrospinal fluid accumulation, Short stature, Neo... OMIM:619004
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Communicating hydrocephalus, Ataxia, Craniosynostosis, Hepatosplenomegaly, ... ORPHA:309282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Hajdu-Cheney Syndrome
Hepatomegaly, Mitral stenosis, Splenomegaly, Patent ductus arteriosus, Hydrocephalus, Patellar di... ORPHA:955
Cockayne Syndrome A
Hepatomegaly, Hip contracture, Ataxia, Microcephaly, Splenomegaly, Cryptorchidism, Hypertension, ... OMIM:216400
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Acute Adrenal Insufficiency
Hypoglycemia, Delayed puberty ORPHA:95409
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... ORPHA:90695
Van Maldergem Syndrome 2
Wide cranial sutures, Cryptorchidism, Wide anterior fontanel, Hypoplastic nipples, Hip subluxation OMIM:615546
Achondroplasia
Hydrocephalus, Neonatal short-limb short stature, Rhizomelia OMIM:100800
Occipital Horn Syndrome
Delayed cranial suture closure, Venous insufficiency, Jaundice, Large fontanelles, Hepatitis, Cho... ORPHA:198
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... OMIM:175780
Joubert Syndrome 38
Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth hormone stimulat... OMIM:619476
Mohr Syndrome
Wormian bones, Hydrocephalus OMIM:252100
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum, Coarctation of aorta ORPHA:268249
Yunis-Varon Syndrome
Wide cranial sutures, Cryptorchidism, Hydrocephalus, Hip dislocation, Renovascular hypertension, ... ORPHA:3472
Cleidocranial Dysplasia
Wormian bones, Spina bifida occulta, Large fontanelles, Genu valgum ORPHA:1452
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Small for gestational age, Microcephaly, Cryptorchidism, Hydr... OMIM:194190
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia ORPHA:90790
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Thyroid hypoplasia ORPHA:2166
Cousin Syndrome
Hydrocephalus, Humeroradial synostosis, Hydranencephaly, Dislocation of the femoral head, Joint c... OMIM:260660
Fraser Syndrome 3
Hydrocephalus, Stillbirth OMIM:617667
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Hepatomegaly, Lateral ventricle dilatation, Hydrocephalus OMIM:612301
Sheehan Syndrome
Hypoglycemia ORPHA:91355
Coffin-Siris Syndrome 12
Microcephaly, Cryptorchidism, Tetralogy of Fallot, Heart murmur, Noncommunicating hydrocephalus, ... OMIM:619325
Schinzel-Giedion Syndrome
Streak ovary, Failure to thrive in infancy, Wormian bones, Wide anterior fontanel, Choroid plexus... ORPHA:798
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, Hydrocephalus OMIM:618590
Shigellosis
Hypoglycemia ORPHA:810
Costello Syndrome
Ventriculomegaly, Hypoglycemia, Hydrocephalus, Short stature OMIM:218040
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Wide anterior fontanel ORPHA:85184
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Aqueductal stenosis, Knee dislocation, Hepatic fibrosis, Intrahepa... OMIM:619534
Raine Syndrome
Neonatal death, Hydrocephalus, Short stature OMIM:259775
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Hepatomegaly, Hyperactivity, Impulsivity, Aggressive behavior, Splen... ORPHA:580
Saethre-Chotzen Syndrome
Proximal radio-ulnar synostosis, Cryptorchidism, Delayed cranial suture closure, Craniosynostosis ORPHA:794
Melnick-Needles Syndrome
Hip dislocation, Genu valgum, Gait disturbance, Pulmonary arterial hypertension, Failure to thriv... OMIM:309350
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Anterio... OMIM:157170
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Splenomegaly, Ataxia, Cardiomyopathy OMIM:616084
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Large for gestational age, Gait ataxia, Metopic synostosis, Difficul... ORPHA:457359
Melnick-Needles Syndrome
Hip dislocation, Delayed cranial suture closure ORPHA:2484
Osteogenesis Imperfecta, Type Xi
Wormian bones, Protrusio acetabuli OMIM:610968
Van Maldergem Syndrome 1
Wide anterior fontanel, Wide cranial sutures, Radial head subluxation OMIM:601390
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Anterior pituitary agenesis OMIM:620303
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia OMIM:301066
Rajab Interstitial Lung Disease With Brain Calcifications 1
Growth delay, Intrauterine growth retardation, Hypoglycemia, Short stature OMIM:613658
Tetrasomy 9P
Joint dislocation, Absent gallbladder, Hyperactivity, Juxtaductal coarctation of the aorta, Peric... ORPHA:3310
Wrinkly Skin Syndrome
Dandy-Walker malformation, Congenital hip dislocation, Delayed closure of the anterior fontanelle... ORPHA:2834
Tyrosinemia, Type I
Growth delay, Hypoglycemia OMIM:276700
Osteogenesis Imperfecta, Type Xx
Wormian bones, Microcephaly OMIM:618644
Mandibuloacral Dysplasia With Type A Lipodystrophy
Wormian bones, Large fontanelles, Breast aplasia ORPHA:90153
Cockayne Syndrome B
Hepatomegaly, Ataxia, Small for gestational age, Microcephaly, Splenomegaly, Cryptorchidism, Hype... OMIM:133540
Microphthalmia With Linear Skin Defects Syndrome
Failure to thrive, Tricuspid regurgitation, Microcephaly, Hydrocephalus, Dilated cardiomyopathy, ... ORPHA:2556
Hunter-Macdonald Syndrome
Aortic regurgitation, Patent ductus arteriosus, Premature osteoarthritis, Large fontanelles, Hype... OMIM:611962
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Cervical C2/C3 vertebral fusion, Microceph... ORPHA:444077
Osteogenesis Imperfecta, Type Xxi
Wormian bones OMIM:619131
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:616546
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Craniosynostosis, Splenomegaly, Pulmonary artery stenosis, Hydrocephalus, Pulmonary... ORPHA:667
Addison Disease
Type I diabetes mellitus, Hypoglycemia, Delayed puberty ORPHA:85138
Glycogen Storage Disease Ic
Hypoglycemia, Delayed puberty OMIM:232240
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal hypoglycemia ORPHA:90791
Multiple Endocrine Neoplasia, Type I
Hypoglycemia OMIM:131100
Acrofacial Dysostosis 1, Nager Type
Microcephaly, Aqueductal stenosis, Patent ductus arteriosus, Hydrocephalus, Hip dislocation, Radi... OMIM:154400
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Tarsal synostosis, Wide anterior fontanel, Coronal craniosynostosis, ... ORPHA:85199
Wrinkly Skin Syndrome
Congenital hip dislocation, Delayed closure of the anterior fontanelle, Microcephaly, Cryptorchid... OMIM:278250
Osteogenesis Imperfecta, Type I
Wormian bones, Bruising susceptibility, Aortic aneurysm OMIM:166200
Primary Fanconi Renotubular Syndrome
Growth delay, Hypoglycemia, Glycosuria ORPHA:3337
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Camptodactyly of finger, Microcephaly, Cryptorchidism, Patent ductus art... ORPHA:261337
Geroderma Osteodysplasticum
Wormian bones, Microcephaly OMIM:231070
Pseudoaminopterin Syndrome
Sagittal craniosynostosis, Limited elbow movement, Asplenia, Cryptorchidism, Hydrocephalus, Talip... ORPHA:221120
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Anterior pituitary hypoplasia, Epistaxis, Aggressive behavior, Micro... OMIM:619841
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Large fontanelles, Exencephaly, Delayed cranial suture closure ORPHA:2211
Mandibuloacral Dysplasia
Delayed cranial suture closure ORPHA:2457
Osteogenesis Imperfecta, Type Xviii
Wormian bones OMIM:617952
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Joint dislocation, Ventriculomegaly, Tricuspid regurgitation, Cryptorchidis... OMIM:601776
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Microcephaly, Hydrocephalus, Genu valgum, Abdominal obesity, Hypoplasia of the ovary, Hepatic ste... OMIM:619321
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Genu recurvatum, Delayed cranial suture closure, Microcephaly, Congestive h... ORPHA:90348
Neurofibromatosis Type 1
Ataxia, Cryptorchidism, Hydrocephalus, Arterial stenosis, Genu valgum, Hypertension, Pheochromocy... ORPHA:636
Basal Cell Nevus Syndrome 1
Vertebral fusion, Ovarian fibroma, Spina bifida, Hydrocephalus, Ovarian carcinoma OMIM:109400
Neuroocular Syndrome
Hypoplasia of the fovea, Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma OMIM:619539
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Perlman Syndrome
Hypoglycemia OMIM:267000
Thoracoabdominal Syndrome
Hydrocephalus, Patent ductus arteriosus, Anencephaly, Transposition of the great arteries OMIM:313850
Fanconi Anemia, Complementation Group L
Growth delay, Intrauterine growth retardation, Hydrocephalus OMIM:614083
Wiedemann-Rautenstrauch Syndrome
Hepatic steatosis, Prominent scalp veins, Ataxia, Decreased response to growth hormone stimulatio... ORPHA:3455
Mandibuloacral Dysplasia With Type A Lipodystrophy
Wormian bones, Hepatomegaly, Elbow flexion contracture, Delayed cranial suture closure OMIM:248370
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary OMIM:610125
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Wormian bones, Ulnar deviation of the wrist, Interphalangeal joint contracture of f... ORPHA:96334
Osteogenesis Imperfecta, Type Vii
Wide cranial sutures, Protrusio acetabuli, Hypoplastic pulmonary veins, Wide anterior fontanel, A... OMIM:610682
Peters-Plus Syndrome
Bilobate gallbladder, Limited elbow movement, Craniosynostosis, Microcephaly, Cryptorchidism, Pat... OMIM:261540
Campomelic Dysplasia
Spina bifida, Contracture of the distal interphalangeal joint of the fingers, Wide anterior fonta... OMIM:114290
Diamond-Blackfan Anemia 1
Tricuspid stenosis, Microcephaly, Congestive heart failure, Spina bifida occulta, Coarctation of ... OMIM:105650
Simpson-Golabi-Behmel Syndrome
Hypoglycemia, Dandy-Walker malformation ORPHA:373
Pmm2-Cdg
Pericarditis, Dandy-Walker malformation, Ataxia, Angina pectoris, Elevated circulating growth hor... ORPHA:79318
Robinow Syndrome, Autosomal Recessive 1
Vertebral fusion, Cryptorchidism, Wide anterior fontanel, Proximal/middle symphalangism of 5th fi... OMIM:268310
Frank-Ter Haar Syndrome
Wormian bones, Wide anterior fontanel, Double outlet right ventricle, Delayed cranial suture closure OMIM:249420
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Pycnodysostosis
Wormian bones, Persistent open anterior fontanelle OMIM:265800
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia ORPHA:786
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia, Delayed puberty ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia, Delayed puberty ORPHA:289548
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia, Increased CSF lactate OMIM:220111
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Supernumerary nipple, Cryptorchidism, Splenomegaly, Patent ductus arteriosus, Hydro... OMIM:312870
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Large for gestational age, Ventriculomegaly, Gait ataxia OMIM:617011
Fetal Akinesia Deformation Sequence 1
Hip contracture, Small for gestational age, Camptodactyly of finger, Cryptorchidism, Hydrocephalu... OMIM:208150
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia ORPHA:293978
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Microcephaly, Knee flexion contracture, Dislocation of the femoral head, Delayed... OMIM:210730
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Microcephaly, Cryptorchidism, Hydrocephalus, Coarc... OMIM:147920
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contracture, Obesity, A... OMIM:181450
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Wormian bones, Abnormality of the wrist, Venous insufficiency, Elbow dislocati... ORPHA:285
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Focal Dermal Hypoplasia
Congenital hip dislocation, Supernumerary nipple, Microcephaly, Cryptorchidism, Hydrocephalus, My... OMIM:305600
Knobloch Syndrome
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus ORPHA:1571
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Osteogenesis Imperfecta, Type Viii
Wormian bones, Wide anterior fontanel OMIM:610915
Cryptococcosis
Peritonitis, Hydrocephalus, Cirrhosis ORPHA:1546
Osteogenesis Imperfecta, Type Iv
Wormian bones OMIM:166220
Beckwith-Wiedemann Syndrome
Hypoglycemia, Neonatal hypoglycemia ORPHA:116
Cleidocranial Dysplasia 1
Wormian bones, Persistent open anterior fontanelle, Large fontanelles, Hip dislocation OMIM:119600
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Delayed closure of the anterior fontanelle, Spina bifida, Cryptorchid... OMIM:304120
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Lower limb dysmetria, Hydrocephalus, Genu valgum, Mitral regurgitation, Pulmonic stenosis, Attent... ORPHA:363700
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Hydrocephalus, Pulmonary lymphangiomyomatosis ORPHA:538
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormality of the liv... ORPHA:2369
Yunis-Varon Syndrome
Wide cranial sutures, Absent nipple, Small for gestational age, Failure to thrive in infancy, Con... OMIM:216340
Autosomal Dominant Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Decreased testicular size, Delayed cranial suture closure ORPHA:93325
Peters Plus Syndrome
Rhizomelia, Short stature, Postnatal growth retardation, Hydrocephalus, Disproportionate short-li... ORPHA:709
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Tricuspid regurgitation, Genu valgum, Mitral regurgitation, Macrovesicular hepatic ... OMIM:619127
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hip contracture, Hydrocephalus, Gait disturbance ORPHA:3042
Townes-Brocks Syndrome 1
Small for gestational age, Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Metata... OMIM:107480
Fraser Syndrome 1
Encephalocele, Microcephaly, Cryptorchidism, Myelomeningocele, Hydrocephalus OMIM:219000
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis, Hydrocephalus OMIM:273395
Hydrolethalus Syndrome 1
Accessory spleen, Anencephaly, Adrenal gland dysgenesis, Severe hydrocephalus, Agenesis of corpus... OMIM:236680
Beckwith-Wiedemann Syndrome
Dandy-Walker malformation, Neonatal hypoglycemia OMIM:130650
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ankle flexion contracture, Craniosynostosis, Microcephaly, Cryptorchidism, Pate... OMIM:268300
Ayme-Gripp Syndrome
Radioulnar synostosis, Pericarditis, Delayed cranial suture closure OMIM:601088
Oeis Complex
Cryptorchidism, Myelomeningocele, Congenital hip dislocation, Hydrocephalus OMIM:258040
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Short stature, Neonatal hypoglycemia ORPHA:90794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly, Microcephaly OMIM:253280
Exstrophy-Epispadias Complex
Spina bifida, Microcephaly, Cryptorchidism, Abnormal joint morphology, Hydrocephalus ORPHA:322
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypoglycemia OMIM:201750
Saethre-Chotzen Syndrome
Coronal craniosynostosis, Radioulnar synostosis, Delayed cranial suture closure, Lambdoidal crani... OMIM:101400
Pallister-Killian Syndrome
Ventriculomegaly, Congenital hip dislocation, Supernumerary nipple, Inability to walk, Cryptorchi... OMIM:601803
Craniofacial Microsomia 1
Occipital encephalocele, Block vertebrae, Patent ductus arteriosus, Hydrocephalus, Coarctation of... OMIM:164210
Sotos Syndrome
Ventriculomegaly, Neonatal hypoglycemia ORPHA:821

Histopathology

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

Phenotype Allele Zygosity Sex Life Stage
Eye with optic nerve - developmental and structural abnormality Socs7tm1a(EUCOMM)Wtsi HOM Early adult
Testes - process of degenerative change Socs7tm1a(EUCOMM)Wtsi HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Socs7.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
CRL5-dependent regulation of the small GTPases ARL4C and ARF6 controls hippocampal morphogenesis. Proceedings of the National Academy of Sciences of the United States of America (September 2020) Socs7tm1b(EUCOMM)Wtsi 32873638
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Socs7tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Socs7tm3a(EUCOMM)Wtsi PMC6459510
RBX2 maintains final retinal cell position in a DAB1-dependent and -independent fashion. Development (Cambridge, England) (February 2018) Socs7tm1a(EUCOMM)Wtsi Socs7tm1b(EUCOMM)Wtsi 29361558
Rbx2 regulates neuronal migration through different cullin 5-RING ligase adaptors. Developmental cell (November 2013) Socs7tm1c(EUCOMM)Wtsi Socs7tm1a(EUCOMM)Wtsi PMC3851519

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Socs7tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Socs7tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Socs7tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Socs7tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Socs7tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Socs7tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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