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Gene: Rsph9 MGI:1922814

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Gene Summary

Name:
radial spoke head 9 homolog (Chlamydomonas)
Synonyms:
1700027N10Rik

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
hyperactivity Rsph9tm1.1(KOMP)Vlcg HET Early adult 1.09×10-08
increased thigmotaxis Rsph9tm1.1(KOMP)Vlcg HET Early adult 4.84×10-06
preweaning lethality, incomplete penetrance Rsph9tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal behavior Rsph9tm1.1(KOMP)Vlcg HET Early adult 4.85×10-06

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%
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.

Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

4 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Adult LacZ

LacZ Images Section

20 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Human diseases caused by Rsph9 mutations

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

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

The table below shows human diseases associated to Rsph9 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Chronic pulmonary obstruc... OMIM:612650
Primary Ciliary Dyskinesia
Chronic otitis media, Neonatal respiratory distress, Chronic sinusitis, Asplenia, Hydrocephalus, ... ORPHA:244

The table below shows human diseases predicted to be associated to Rsph9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Severe Primary Trimethylaminuria
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression ORPHA:468726
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Atypical Teratoid Rhabdoid Tumor
Reduced consciousness/confusion, Macrocephaly, Apathy, Hydrocephalus, Irritability, Muscle weakness ORPHA:99966
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Intellectual Developmental Disorder, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Methylmalonic Acidemia With Homocystinuria
Skin rash, Hydrocephalus, Failure to thrive, Microcephaly, Lethargy ORPHA:26
Leptin Receptor Deficiency
Emotional lability, Delayed puberty, Abnormal hypothalamus morphology, Short stature, Decreased r... OMIM:614963
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Increased CSF protein concentration, Gliosis, Confusion, Respiratory failure requir... ORPHA:204
Megalencephaly, Autosomal Dominant
Macrocephaly, Hydrocephalus OMIM:155350
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Macrocephaly, Slender build, Astrocytosis, Ventriculomegaly OMIM:611087
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Macrocephaly, Hydrocephalus OMIM:615938
Inherited Creutzfeldt-Jakob Disease
Emotional lability, Apathy, Astrocytosis, Increased CSF protein concentration, Anxiety, Irritabil... ORPHA:282166
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Microcephaly, Growth delay, Lethargy, Agenesis of corpus callosum OMIM:274270
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Macrocephaly, Hydrocephalus OMIM:615937
Craniopharyngioma
Delayed puberty, Hypopituitarism, Increased circulating prolactin concentration, Abnormal hypotha... ORPHA:54595
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Macrocephaly, Microcephaly, Hydrocephalus OMIM:618709
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Atopic dermatitis, Complete or near-complete absence of s... ORPHA:70593
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Neutropenia, Intrauterine growth retardation, Excessive daytime somnolence, Macroc... ORPHA:2169
Lissencephaly 4
Colpocephaly, Primary microcephaly, Short stature, Growth delay, Agenesis of corpus callosum OMIM:614019
Dopa-Responsive Dystonia
Emotional lability, Agoraphobia, Poor head control, Abnormal CSF biopterin concentration, Anxiety... ORPHA:255
Leukoencephalopathy With Vanishing White Matter 1
Emotional lability, Cessation of head growth, Macrocephaly, Cerebral hypomyelination, CNS demyeli... OMIM:603896
Mitochondrial Complex I Deficiency, Nuclear Type 5
Progressive microcephaly, Respiratory insufficiency, Irritability, Apnea, Failure to thrive, Micr... OMIM:618226
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Developmental And Epileptic Encephalopathy 36
Macrocephaly, Self-mutilation, Hydrocephalus, Microretrognathia, Microcephaly, Delayed CNS myelin... OMIM:300884
Combined Oxidative Phosphorylation Deficiency 2
Small for gestational age, Neonatal death, Mild fetal ventriculomegaly, Lethargy, Agenesis of cor... OMIM:610498
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Ventriculomegaly, Apneic episodes precipitated by illness, fatigue, st... OMIM:312170
Behavioral Variant Of Frontotemporal Dementia
Apathy, Astrocytosis, Abulia, Irritability, Emotional blunting, Aggressive behavior ORPHA:275864
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Masa Syndrome
Macrocephaly, Hydrocephalus, Short stature, Ventriculomegaly, Microcephaly, Agenesis of corpus ca... OMIM:303350
Pelizaeus-Merzbacher Disease
Congenital laryngeal stridor, CNS hypomyelination, Apathy, Sudanophilic leukodystrophy, Abnormal ... OMIM:312080
Chudley-Mccullough Syndrome
Ventriculomegaly, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:604213
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, CNS demyelination, Oculomotor nerve palsy, Abnormal ... ORPHA:217260
Immunodeficiency 102
Chronic sinusitis, Partial absence of specific antibody response to Haemophilus influenzae type b... OMIM:301082
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Thrombocytopenia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight, Poor head control ORPHA:324422
Duplication Of The Pituitary Gland
Encephalocele, Self-mutilation, Retrognathia, Abnormality of the pituitary gland, Abnormal hypoth... ORPHA:314621
Glycine Encephalopathy 1
Aggressive behavior, Lethargy, Agenesis of corpus callosum, Irritability OMIM:605899
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Skin rash, Anemia, Abnormality of neutrophils, Abnormal ly... ORPHA:229717
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Cough, Chronic rhinitis, ... OMIM:612444
Gaba-Transaminase Deficiency
Lethargy, Agenesis of corpus callosum, Leukodystrophy, Retrognathia OMIM:613163
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Distal muscle weakness, Muscle weakness, Lethargy, Increased CSF lactate OMIM:613710
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Failure to th... ORPHA:277
Glut1 Deficiency Syndrome 1
Secondary microcephaly, Hypoglycorrhachia, Paroxysmal lethargy, Confusion, Lethargy OMIM:606777
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Micrognathia, Hydrocephalus ORPHA:1538
Amoebiasis Due To Free-Living Amoebae
Increased red blood cell count, Abnormal hypothalamus morphology, Pustule, Increased CSF protein ... ORPHA:68
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Lower limb muscle weakness, Failure to thrive, Upper limb muscle weakness, Basal ga... ORPHA:225154
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Gliosis, Confusion, Herpes simplex encephalitis OMIM:613002
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Macrocephaly, Ventriculomegaly OMIM:611808
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytop... OMIM:619302
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Neutropenia, Decreased circulating IgA level,... OMIM:613502
Pandas
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Attentio... ORPHA:66624
Central Neurocytoma
Abnormal lateral ventricle morphology, Lethargy, Coma, Hydrocephalus ORPHA:73256
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Alexander Disease
Apathy, Increased CSF protein concentration, Hydrocephalus, Diffuse demyelination of the cerebral... OMIM:203450
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Severe Canavan Disease
Macrocephaly, Lethargy, Poor head control, Irritability ORPHA:314911
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Failure to thrive, Respiratory distress, Microcephaly, Lethargy ORPHA:26792
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Aggressive behavior, Apathy, Astrocytosis OMIM:600795
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity, Agitation OMIM:309548
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Abnormal myelination, Ventriculomegaly, Pneumonia, Agene... ORPHA:85179
Febrile Infection-Related Epilepsy Syndrome
Cough, Sinusitis, Lethargy ORPHA:163703
Mitochondrial Complex I Deficiency, Nuclear Type 6
Respiratory insufficiency, Apnea, Sleep apnea, Failure to thrive, Ventriculomegaly, Lethargy OMIM:618228
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Intrauterine growth retardation, Growth delay, Severe demy... ORPHA:488635
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Decreased circulating IgA level, Recurrent ot... OMIM:612692
Fraxe Intellectual Disability
Aggressive behavior, Hyperactivity, Impulsivity, Agitation ORPHA:100973
Pontocerebellar Hypoplasia, Type 6
Poor head control, Progressive microcephaly, Apnea, Failure to thrive, Microcephaly, Increased CS... OMIM:611523
Classic Glucose Transporter Type 1 Deficiency Syndrome
Progressive microcephaly, Abnormal erythrocyte morphology, Hypoglycorrhachia, Central apnea, Conf... ORPHA:71277
X-Linked Agammaglobulinemia
Chronic otitis media, Recurrent cutaneous abscess formation, Skin rash, Anemia, Neutropenia, Shor... ORPHA:47
Mitochondrial Complex I Deficiency, Nuclear Type 4
Macrocephaly, Apnea, Increased CSF lactate, Lethargy, Leukodystrophy, Ophthalmoplegia OMIM:618225
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Progressive microcephaly, Hydrocephalus, Respiratory insufficiency, Intrauter... OMIM:610333
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Chronic pulmonary obstruc... OMIM:612650
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Failure to thrive, Respiratory distress, Sidero... OMIM:613561
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Small for gestational age, Partial agenesis of the corpus callosum... ORPHA:79243
Congenital Disorder Of Glycosylation, Type Iid
Macrocephaly, Dandy-Walker malformation, Hydrocephalus OMIM:607091
Ciliary Dyskinesia, Primary, 14
Neonatal respiratory distress, Abnormal axonemal organization of respiratory motile cilia, Chroni... OMIM:613807
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Chronic sinusitis, Decreased nasal nitric oxide, Recurrent otitis ... OMIM:615294
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Abnormal circulating IgG level, Failure to thrive, Eosinophilia... OMIM:226990
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Holoprosencephaly 5
Hydrocephalus, Lobar holoprosencephaly, Alobar holoprosencephaly, Semilobar holoprosencephaly, La... OMIM:609637
Autosomal Recessive Spastic Paraplegia Type 11
Emotional lability, Hypothalamic atrophy, Overweight, Lower limb muscle weakness, Lateral ventric... ORPHA:2822
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Chronic sinusitis, Chronic pulmonary obstruction, Chronic rhinitis... OMIM:616481
Pontocerebellar Hypoplasia, Type 1A
Respiratory insufficiency, Intercostal muscle weakness, Lateral ventricle dilatation, Demyelinati... OMIM:607596
Autosomal Agammaglobulinemia
Chronic otitis media, Skin rash, Cough, Arthritis, Failure to thrive, Hepatitis, Sinusitis, Recur... ORPHA:33110
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Non Rare In Europe: Central Precocious Puberty
Hydrocephalus, Acne, Hypothalamic hamartoma, Increased circulating gonadotropin level, Increased ... ORPHA:759
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic sinusitis, Abnormal ciliary motility, Chronic rhinitis, Absent oute... OMIM:614017
Pallister-Hall-Like Syndrome
Macrocephaly, Glioma, Hydrocephalus, Occipital encephalocele, Short stature, Hypothalamic hamarto... OMIM:241800
Intellectual Developmental Disorder, Autosomal Recessive 68
Small for gestational age, Hydrocephalus, Muscle weakness, Microcephaly, Hypoplasia of the maxilla OMIM:618302
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Lethargy, Intrauterine growth retardation OMIM:617065
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy, Short stature, Growth delay OMIM:618573
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Macrocephaly, Anxiety, Self-injurious behavior, Interhypothalamic adhesion, Agenesis of corpus ca... OMIM:618929
Ciliary Dyskinesia, Primary, 27
Neonatal respiratory distress, Chronic sinusitis, Respiratory insufficiency due to defective cili... OMIM:615504
Fragile X Syndrome
Chronic otitis media, Macrocephaly, Anxiety, Mandibular prognathia, Self-injurious behavior, Sinu... ORPHA:908
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Chronic sinusitis, Asplenia, Communicating hydrocephalus, Chronic rhinitis,... OMIM:244400
1Q21.1 Microduplication Syndrome
Macrocephaly, Failure to thrive, Hydrocephalus ORPHA:250994
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Emotional lability, Delirium, Anxiety, Drowsiness, Failure to thrive, Respiratory distress, Micro... ORPHA:927
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Periodontitis, Hydrocephalus ORPHA:1008
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy, Ventriculomegaly, Irregular respiration, Respiratory distress, Gliosis, Increased CSF l... OMIM:604377
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Hydrocephalus OMIM:209970
Band Heterotopia
Macrocephaly, Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Agenesis of corpus c... OMIM:600348
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Microcephaly, Hydrocephalus OMIM:619470
Dystonia 30
Hypothalamic hamartoma, Aggressive behavior OMIM:619291
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Intrauterine growth retardation, Short stature, Irritability, Ventri... OMIM:619833
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive ORPHA:79283
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress, Confusion, Lethargy, Aggressive behavior, Coma OMIM:237310
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Malar flattening, Decreased circulating IgA level, Short stature, Reduced natural killer cell cou... OMIM:242860
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive ORPHA:622
Phenylketonuria
Self-mutilation, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Irritability, ... OMIM:261600
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Acute otitis media, Skin rash, Autoimmune t... ORPHA:572
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Productive cough, Decreas... OMIM:618063
Felty Syndrome
Chronic otitis media, Anemia, Bone marrow hypocellularity, Neutropenia, Abnormal lymphocyte morph... ORPHA:47612
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea, Intrauterine growth retardation, Ventriculomegaly, Microcephaly, Growth delay... ORPHA:765
Dihydrolipoamide Dehydrogenase Deficiency
Increased CSF leucine concentration, Increased CSF valine concentration, Microcephaly, Increased ... OMIM:246900
Ciliary Dyskinesia, Primary, 6
Abnormal ciliary motility, Absent/shortened outer dynein arms, Sinusitis, Abnormal respiratory mo... OMIM:610852
Developmental And Epileptic Encephalopathy 92
Lethargy, Secondary microcephaly OMIM:617829
Pgm3-Cdg
Chronic otitis media, Chronic sinusitis, Hemolytic anemia, Decreased proportion of CD3-positive T... ORPHA:443811
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Selective Igm Deficiency
Chronic sinusitis, Decreased specific antibody response to vaccination, Decreased proportion of C... ORPHA:331235
Edinburgh Malformation Syndrome
Failure to thrive, Hydrocephalus OMIM:129850
Congenital Hydrocephalus
Colpocephaly, Macrocephaly, Hydrocephalus, Ventriculomegaly ORPHA:2185
Ciliary Dyskinesia, Primary, 17
Chronic sinusitis, Cough, Chronic rhinitis, Recurrent otitis media, Bronchiectasis, Dynein arm de... OMIM:614679
Aspergillosis
Dyspnea, Abnormality on pulmonary function testing, Chronic pulmonary obstruction, Cough, Increas... ORPHA:1163
Congenital Toxoplasmosis
Hydrocephalus, Anemia, Failure to thrive in infancy, Intrauterine growth retardation, Ventriculom... ORPHA:858
Cach Syndrome
Hepatosplenomegaly, T2 hypointense thalamus, Optic neuritis, Apathy, Dysmyelinating leukodystroph... ORPHA:135
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Respiratory insufficiency, Lateral ventricle dilatation, Ven... OMIM:617397
Ciliary Dyskinesia, Primary, 40
Chronic sinusitis, Cough, Chronic rhinitis, Reduced forced expiratory volume in one second, Decre... OMIM:618300
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Obsolete: Early-Onset Schizophrenia
Polyphagia, Emotional lability, Impairment in personality functioning, Suicidal ideation, Restles... ORPHA:96369
Hyperprolinemia, Type I
Aggressive behavior, Hyperactivity OMIM:239500
Immunodeficiency 51
Eczema, Chronic mucocutaneous candidiasis, Abnormal lymphocyte morphology, Chronic oral candidias... OMIM:613953
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Williams-Beuren Region Duplication Syndrome
Chronic otitis media, Small for gestational age, Macrocephaly, Hydrocephalus, Anxiety, Short stat... OMIM:609757
Hemidystonia-Hemiatrophy Syndrome
Rhizomelic leg shortening, Advanced pneumatization of cranial sinuses, Abnormal paranasal sinus m... ORPHA:306741
Temple Syndrome
Small for gestational age, Hydrocephalus, Short stature, Relative macrocephaly, Decreased respons... ORPHA:254516
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Chronic sinusitis, Productive cough, Chronic rhinitis, Bronchiecta... OMIM:618699
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Drowsiness, Increased body weight, Lethargy, Generalized muscle weakness, Coma ORPHA:276608
Ciliary Dyskinesia, Primary, 30
Chronic sinusitis, Respiratory insufficiency, Cough, Respiratory insufficiency due to defective c... OMIM:616037
Primary Ciliary Dyskinesia
Chronic otitis media, Neonatal respiratory distress, Chronic sinusitis, Asplenia, Hydrocephalus, ... ORPHA:244
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Macrocephaly, Fatigable weakness of neck muscles, Cachexia, Proximal muscle weakness, Lethargy, F... ORPHA:42
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Hydrocephalus, Cachexia, Failure to thrive, Progressive m... ORPHA:363717
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy, Agenesis of corpus callosum, Irritability, Failure to thrive OMIM:250620
Developmental And Epileptic Encephalopathy 41
Irritability, Delayed eruption of teeth, Microcephaly, Delayed CNS myelination, Lethargy OMIM:617105
Frontal Encephalocele
Encephalocele, Macrocephaly, Spina bifida, Hydrocephalus, Leukodystrophy ORPHA:1931
Fried Syndrome
Aggressive behavior, Hydrocephalus ORPHA:85335
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Otitis media OMIM:300455
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Intellectual Developmental Disorder, Autosomal Dominant 67
Bipolar affective disorder, Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Hereditary Central Diabetes Insipidus
Irritability, Lethargy, Weight loss, Growth delay ORPHA:30925
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Chronic rhinitis, Absent respiratory ciliary axoneme radi... OMIM:242670
Mitochondrial Complex I Deficiency, Nuclear Type 3
Respiratory insufficiency, Lethargy OMIM:618224
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Abnormal axonemal organization of respiratory motile cilia, Chroni... OMIM:613808
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Otitis media, Ciliary dyskinesia... OMIM:606763
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation, Peripheral demyelination, Gliosis, Euphoria, Aggressive behavior OMIM:221770
Martsolf Syndrome 2
Microcephaly, Decreased body weight, Short stature, Lateral ventricle dilatation OMIM:619420
Holocarboxylase Synthetase Deficiency
Keratoconjunctivitis, Tachypnea, Perioral eczema, Irritability, Respiratory distress, Thrombocyto... ORPHA:79242
Cleft Lip With Or Without Cleft Palate
Recurrent otitis media, Chronic sinusitis ORPHA:1991
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Skin rash, Irritability, Ventriculomegaly, Gliosis, Pancytopenia, Lethargy, Aggressive behavior, ... OMIM:618321
Lennox-Gastaut Syndrome
Aggressive behavior, Personality disorder, Hyperactivity ORPHA:2382
Cyclic Vomiting Syndrome
Muscle weakness, Lethargy, Microcephaly, Growth delay OMIM:500007
Mucus Inspissation Of Respiratory Tract
Chronic sinusitis, Bronchiectasis, Chronic pulmonary obstruction OMIM:253240
Lethal Infantile Mitochondrial Myopathy
Neonatal respiratory distress, Lethargy, Progressive external ophthalmoplegia ORPHA:254857
Riddle Syndrome
Emotional lability, Decreased circulating total IgM, Chronic sinusitis, Restrictive ventilatory d... ORPHA:420741
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy, Confusion, Herpes simplex encephalitis OMIM:617900
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Hyperactivity, Nail-biting, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Leigh Syndrome With Cardiomyopathy
Fluctuations in consciousness, Anemia, Failure to thrive, Ventriculomegaly, Apnea, Central hypove... ORPHA:70474
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Anemia, External ophthalmoplegia, Failure to thrive, Muscle weakness, Respiratory failure, Increa... OMIM:615838
Ciliary Dyskinesia, Primary, 10
Chronic otitis media, Chronic sinusitis, Abnormal respiratory motile cilium morphology, Ciliary d... OMIM:612518
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:304100
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Poor head control, Respiratory insufficiency, Respiratory distress, Increased CSF glycine concent... OMIM:614299
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Macrocephaly, Short stature, Secondary microcephaly, Hydrocephalus OMIM:618174
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Respiratory insufficiency, Failure to thrive, Lethargy, Coma ORPHA:28
Gómez-López-Hernández Syndrome
Short stature, Hydrocephalus ORPHA:1532
Carnitine Deficiency, Systemic Primary
Excessive daytime somnolence, Proximal muscle weakness, Failure to thrive, Respiratory distress, ... OMIM:212140
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Loss of consciousness, Muscle weakness, Hypoglycemic coma, Lethargy, Large for gestational age, D... ORPHA:276580
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy, Decreased CSF homovanillic acid concentration, Irritability ORPHA:101150
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Neutropenia, Failure to thrive, Respiratory distress, Thrombocytopenia, Let... ORPHA:79312
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Neonatal death OMIM:614870
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Hyperactivity, Anxiety, Aggressive behavior, Impulsivity ORPHA:101039
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Delayed CNS myelination, Microcephaly, Secondary microcephaly, Hydrocephalus OMIM:615599
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, B lymphocytopenia, Reduced red cell adenosine deaminase lev... OMIM:102700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Ophthalmoplegia OMIM:618683
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Bipolar affective disorder, Abnormal aggre... ORPHA:3077
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Macrocephaly, Short stature, Micrognathia, Hydrocephalus ORPHA:1516
Microphthalmia-Brain Atrophy Syndrome
Diffuse demyelination of the cerebral white matter, Microcephaly, Lateral ventricle dilatation, V... ORPHA:77299
Multiple Carboxylase Deficiency
Spinal cord posterior columns myelin loss, Skin rash, Limb muscle weakness, Respiratory distress,... ORPHA:148
Central Diabetes Insipidus
Anxiety, Excessive daytime somnolence, Failure to thrive, Lethargy, Weight loss ORPHA:178029
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Insulinoma
Reduced consciousness/confusion, Pituitary prolactin cell adenoma, Fluctuations in consciousness,... ORPHA:97279
Landau-Kleffner Syndrome
Emotional lability, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Depression,... ORPHA:98818
Bacterial Toxic-Shock Syndrome
Peritonitis, Myocarditis, Pharyngitis, Confusion, Increased circulating metamyelocyte count, Incr... ORPHA:36234
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Pancreatitis, Neutropenia, Respiratory distress, Thrombocytopenia, Growth delay, Lethargy... ORPHA:289916
Pontocerebellar Hypoplasia, Type 12
Primary microcephaly, Lateral ventricle dilatation, Micrognathia OMIM:618266
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Anxiety, Self-injurious behavior, Depression, Aggressive behavior OMIM:619467
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Abnormality of B cell physiology, Pure red ... OMIM:613179
Albers-Schönberg Osteopetrosis
Macrocephaly, Hydrocephalus, Anemia, Osteoarthritis, Arthritis, Short stature, Facial palsy, Cari... ORPHA:53
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Respiratory insufficiency, Delayed CNS myelination, Microcephaly, Lateral ventricle dilatation OMIM:617668
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Anxiety, Short stature, Microcephaly, Aggressive behavior OMIM:300558
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Primary microcephaly, Failure to thrive in infancy, Delayed myelination, Intrauterine growth reta... ORPHA:284417
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory insufficiency, Failure to thrive, Neonatal death, In... OMIM:605711
Shwachman-Diamond Syndrome
Hypopituitarism, Macrocytic anemia, Carious teeth, Acute myeloid leukemia, Leukopenia, Normocytic... ORPHA:811
Cyclic Neutropenia
Peritonitis, Pharyngitis, Lymphopenia, Decreased eosinophil count, Sinusitis, Recurrent skin infe... ORPHA:2686
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Aspiration, Pulmonary arterial hypertension, Astrocytosis, Respiratory insufficiency, Intercostal... ORPHA:258
Temple Syndrome
Small for gestational age, Overweight, Hydrocephalus, Truncal obesity, Intrauterine growth retard... OMIM:616222
Propionic Acidemia
Anemia, Pancreatitis, Neutropenia, Short stature, Apnea, Failure to thrive, Thrombocytopenia, Pan... OMIM:606054
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
D-2-Hydroxyglutaric Aciduria 1
Macrocephaly, Lateral ventricle dilatation, Apnea, Muscle weakness, Subependymal cysts, Micrognat... OMIM:600721
Ataxia-Telangiectasia
Hypoplasia of the thymus, Delayed puberty, Decreased circulating IgG2 level, Leukemia, Acute lymp... OMIM:208900
Staphylococcal Necrotizing Pneumonia
Dyspnea, Tachypnea, Pleural effusion, Leukocytosis, Leukopenia, Cough, Hypoxemia, Pharyngitis, No... ORPHA:36238
Familial Nasal Acilia
Dyspnea, Chronic sinusitis, Chronic rhinitis, Respiratory distress, Bronchiectasis, Abnormal resp... ORPHA:922
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Microcephaly, Delayed CNS myelination, Ophthalmoplegia OMIM:618731
Susac Syndrome
Apathy, Abnormal emotion/affect behavior, Muscle weakness, Confusion, Lethargy ORPHA:838
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Large for gestational age, Hypoglycemic coma, Lethargy, Loss of consci... ORPHA:324575
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Delayed myelination, Secondary microcephaly, Hydrocephalus ORPHA:397951
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Hyperactivity OMIM:301013
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Macrocephaly at birth, Hydrocephalus ORPHA:324416
Tubulinopathy-Associated Dysgyria
Macrocephaly, Abnormality of thalamus morphology, Microcephaly, Ventriculomegaly ORPHA:467166
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus, Autoimmune thrombocytopenia, CNS demyelinatio... OMIM:245200
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Small for gestational age, Aspiration pneumonia, Severe short stat... OMIM:619057
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic sinusitis, Decreased specific pneumococcal antibody level, Liver abscess, Recurrent pneum... ORPHA:183675
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Lower limb muscle weakness, Apnea, Failure to thrive, Ventriculomegaly, Microcepha... ORPHA:395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Poor head control, Hydrocephalus, Respiratory insufficiency, Dandy-Walker malformation, Ventricul... OMIM:613153
Lig4 Syndrome
Small for gestational age, Chronic sinusitis, Acute lymphoblastic leukemia, Failure to thrive, Th... OMIM:606593
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Macrocephaly, Hydrocephalus, Malar flattening, Short stature, Ventriculomegaly, Agenesis of corpu... OMIM:109120
Ogden Syndrome
Excessive daytime somnolence, Ventriculomegaly, Microretrognathia, Postnatal growth retardation, ... ORPHA:276432
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Delayed CNS myelination, Decreased thalamic volume, Secondary microcephaly, Failure to thrive OMIM:613668
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Reticulocytopenia, Irritability... OMIM:275350
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb muscle weakness, Hydrocephalus, Triceps weakness, Paresis of extensor muscles o... ORPHA:99947
Craniotelencephalic Dysplasia
Frontal encephalocele, Hydrocephalus, Microcephaly, Arrhinencephaly, Agenesis of corpus callosum ORPHA:1528
Diencephalic Syndrome
Decreased body weight, Cachexia, Hydrocephalus ORPHA:1672
Alobar Holoprosencephaly
Macrocephaly, Aspiration pneumonia, Apathy, Neural tube defect, Hydrocephalus, Anxiety, Abnormal ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Macrocephaly, Aspiration pneumonia, Apathy, Neural tube defect, Hydrocephalus, Anxiety, Abnormal ... ORPHA:93926
Lobar Holoprosencephaly
Macrocephaly, Aspiration pneumonia, Apathy, Neural tube defect, Hydrocephalus, Anxiety, Abnormal ... ORPHA:93924
Semilobar Holoprosencephaly
Macrocephaly, Aspiration pneumonia, Apathy, Neural tube defect, Hydrocephalus, Anxiety, Abnormal ... ORPHA:220386
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Micrognathia, Failure to thrive, Growth delay, Thrombocytopenia,... OMIM:614857
Meningococcal Meningitis
Neonatal respiratory distress, Reduced consciousness/confusion, Skin rash, Increased CSF protein ... ORPHA:33475
Scedosporiosis
Abnormal respiratory system physiology, Endocarditis, Arthralgia/arthritis, Cough, Sinusitis, Sep... ORPHA:449280
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Enteroviral hepatitis, Short stature, Decreased response to growth hormone stimu... OMIM:307200
Mucopolysaccharidosis Type 1
Chronic otitis media, Macrocephaly, Hydrocephalus, Cough, Short stature, Apnea, Sinusitis, Spleno... ORPHA:579
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Micrognathia, Agenesis of corpus callosum OMIM:614120
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Abnormal myelination, Hydrocephalus ORPHA:352682
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination, Agenesis of corpus callosum ORPHA:401820
Nijmegen Breakage Syndrome
Glioma, Malar prominence, Intrauterine growth retardation, Short stature, Autoimmune hemolytic an... OMIM:251260
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Agenesis of corpus callosum ORPHA:401830
Biemond Syndrome Type 2
Obesity, Delayed puberty, Short stature, Hydrocephalus ORPHA:141333
Hyperinsulinism Due To Ucp2 Deficiency
Loss of consciousness, Hypoglycemic coma, Lethargy, Large for gestational age, Drowsiness ORPHA:276556
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Tubulointerstitial nephritis, Pancreatitis, Neutropenia, Failure to thrive, Respirato... OMIM:251000
Kleeblattschaedel
Hydrocephalus OMIM:148800
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Self-mutilation, Aggressive behavior, Hydrocephalus OMIM:616521
Hemochromatosis, Type 2A
Azoospermia, Lethargy, Splenomegaly, Arthritis OMIM:602390
Greig Cephalopolysyndactyly Syndrome
Macrocephaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:380
Tay-Sachs Disease
Hepatosplenomegaly, Abnormal thalamic MRI signal intensity, Aspiration pneumonia, Lower limb musc... ORPHA:845
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Loss of consciousness, Hypoglycemic coma, Lethargy, Large for gestational age, Drowsiness ORPHA:276575
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Productive cough, Chronic... OMIM:617092
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity ORPHA:382
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Hydrocephalus, Progressive macrocephaly, Ventriculomegaly OMIM:602501
Sim1-Related Prader-Willi-Like Syndrome
Central sleep apnea, Small pituitary gland, Hypothalamic luteinizing hormone-releasing hormone de... ORPHA:398079
Alg2-Cdg
Cerebral hypomyelination, Microcephaly, Lateral ventricle dilatation ORPHA:79326
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Decreased specific anti-polysaccharide antibody level, Inflammation of the large in... OMIM:614576
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Neonatal asphyxia, Lateral ventricle dilatation ORPHA:306669
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Hydrocephalus, Malar flattening, Mandibular prognathia, Failure to thrive, Microcep... OMIM:620157
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:271980
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Small for gestational age, Primary microcephaly, Short stature, Lateral ventricle dilatation, Gli... OMIM:619847
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Agenesis of corpus callosum, Hydrocephalus, Micrognathia, Ventriculomegaly OMIM:618577
Cleidocranial Dysplasia
Chronic otitis media, Macrocephaly, Mandibular prognathia, Abnormal dental enamel morphology, Sho... ORPHA:1452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Dandy-Walker malformation OMIM:617967
Hyperphenylalaninemia, Bh4-Deficient, B
Increased CSF phenylalanine concentration, Lethargy, Irritability OMIM:233910
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Severe postnatal growth retardation, Lateral ventricle dilatation, Dil... ORPHA:3078
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Occipital encephalocele, Decreased thalamic volume, Proximal muscle weakness, Vent... ORPHA:370959
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Endocarditis, Tubulointerstitial nephritis, Skin rash, Respiratory insufficiency, Co... ORPHA:183
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Stomatitis, Megaloblastic anemia, Delirium, Hydrocephalus, Pulmo... ORPHA:79282
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Skin rash, Anemia, Myositis, Lymphopenia, Arthritis, Failur... OMIM:617591
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Muscle weakness, Lethargy, Short stature OMIM:618120
Hyperlysinuria With Hyperammonemia
Growth delay, Lethargy, Coma OMIM:238750
Myopathy, Centronuclear, X-Linked
Neonatal respiratory distress, Macrocephaly, Hydrocephalus, Neck muscle weakness, External ophtha... OMIM:310400
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Small for gestational age, Progressive microcephaly, Rhizomelia,... OMIM:607143
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Microcephaly, Apneic episodes in infancy OMIM:610006
Hydranencephaly
Dysgenesis of the thalamus, Primary microcephaly, Thalamic edema, Intrauterine growth retardation... ORPHA:2177
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy, Normocytic anemia, Megaloblastic anemia, Failure to thrive OMIM:236270
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Ventriculomegaly, Microcephaly, Delayed CNS myelination, Agenesis of corpus callosum OMIM:616362
X-Linked Intellectual Disability, Wilson Type
Delayed myelination, Mandibular prognathia, Lateral ventricle dilatation, Microcephaly, Growth delay ORPHA:85290
Isolated Complex I Deficiency
Poor head control, Respiratory insufficiency, Intrauterine growth retardation, Failure to thrive,... ORPHA:2609
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Dyspnea, Autoimmune thrombocytopenia, Autoi... ORPHA:1959
Igg4-Related Pachymeningitis
Dyspnea, Increased circulating IgG4 level, Increased CSF protein concentration, Lower limb muscle... ORPHA:449427
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation OMIM:616816
Adams-Oliver Syndrome 2
Macrocephaly, Hydrocephalus, Lateral ventricle dilatation, Microcephaly, Micrognathia OMIM:614219
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Poor head control, Secondary microcephaly, Irritability, Failure to thrive, Ventric... OMIM:620352
Magel2-Related Prader-Willi-Like Syndrome
Central sleep apnea, Small pituitary gland, Short stature, Hypothalamic luteinizing hormone-relea... ORPHA:398069
Familial Acute Necrotizing Encephalopathy
Increased CSF protein concentration, Abnormality of thalamus morphology, Gliosis, Abnormal patter... ORPHA:88619
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Failure to thrive, Confusion, Lethargy, Coma OMIM:238970
Bilateral Generalized Polymicrogyria
Short stature, Lateral ventricle dilatation, Self-injurious behavior, Total ophthalmoplegia, Micr... ORPHA:208447
Combined Oxidative Phosphorylation Deficiency 11
CNS hypomyelination, Delayed myelination, Neonatal death, Stillbirth, Respiratory failure, Increa... OMIM:614922
Idiopathic Intracranial Hypertension
Lethargy, Abnormal emotion/affect behavior, Obesity ORPHA:238624
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Microcephaly, Failure to thrive ORPHA:2394
Fusariosis
Peritonitis, Lung abscess, Maculopapular exanthema, Productive cough, Granuloma, Myositis, Neutro... ORPHA:228119
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Azoospermia, Short stature, Hydrocephalus ORPHA:2183
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Astrocytosis, Abnormal myelination, Bradykinesia, Microcephaly, Splenomegaly ORPHA:309854
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Intrauterine growth retardation, Ventr... OMIM:225790
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Emotional lability, Macrocephaly, Primary microcephaly, Partial agenesis of the corpus callosum, ... ORPHA:300570
Distal 7Q11.23 Microduplication Syndrome
Anxiety, Frontal encephalocele, Hydrocephalus ORPHA:261102
Greig Cephalopolysyndactyly Syndrome
Macrocephaly, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:175700
Trichinellosis
Reduced consciousness/confusion, Apathy, Trismus, Skin rash, Increased circulating IgE level, Exc... ORPHA:863
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Lethargy, Short stature, Megaloblastic anemia ORPHA:49827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Microcephaly, Hydrocephalus OMIM:613155
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Respiratory insufficiency, Pancreatitis, Macrocytic anemia, Thrombocytopenia,... ORPHA:27
Hjv Or Hamp-Related Hemochromatosis
Muscle weakness, Lethargy ORPHA:79230
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Delirium, Hydrocephalus, Failure to thrive, Thrombocytopenia, Microcephaly,... OMIM:277400
1Q44 Microdeletion Syndrome
Biparietal narrowing, Hydrocephalus, Short stature, Micrognathia, Ventriculomegaly, Microcephaly,... ORPHA:238769
Citrullinemia Type Ii
Fluctuations in consciousness, Decreased body mass index, Delirium, Pancreatitis, Drowsiness, Irr... ORPHA:247585
Glutaric Acidemia I
Macrocephaly, Hydrocephalus, Delayed myelination, Lateral ventricle dilatation, Failure to thrive... OMIM:231670
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Lethargy, Respiratory failure OMIM:619386
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Delayed CNS myelination, Microcephaly, Partial agenesis of the corp... OMIM:619517
Nasu-Hakola Disease
Acute leukemia, Hydrocephalus, Irritability, Ventriculomegaly ORPHA:2770
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Holoprosencephaly, Intrauterine growth retardation, Microcephaly, Micrognathia, ... ORPHA:2570
Leukoencephalopathy, Progressive, With Ovarian Failure
Muscle weakness, Lateral ventricle dilatation OMIM:615889
Dandy-Walker Malformation With Postaxial Polydactyly
Macrocephaly, Hydrocephalus, Dilated fourth ventricle, Microretrognathia, Dandy-Walker malformation OMIM:220220
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Hydrocephalus, Short stature, Relative macrocephaly, Ventriculomegaly, Failure to thr... ORPHA:500055
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Obsolete: Arnold-Chiari Malformation Type Ii
Emotional lability, Partial agenesis of the corpus callosum, Hydrocephalus, Myelomeningocele, Men... ORPHA:1136
Citrullinemia Type I
Failure to thrive, Tachypnea, Lethargy, Loss of consciousness, Coma ORPHA:247525
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Retrognathia, Hydrocephalus, Ventriculomegaly, Episodic tachypnea, Micrognathia, Dandy-Walker mal... ORPHA:163961
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume, Short s... OMIM:611590
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Macrocephaly, Small for gestational age, Hydrocephalus, Disproportionate short-trunk short statur... OMIM:613330
Thanatophoric Dysplasia Type 2
Encephalocele, Macrocephaly, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Short s... ORPHA:93274
Lissencephaly 5
Macrocephaly, Occipital encephalocele, Hydrocephalus OMIM:615191
Intellectual Developmental Disorder, Autosomal Recessive 38
Self-mutilation, Aggressive behavior, Hyperactivity OMIM:615516
Congenital Hypothyroidism
Sinusitis, Anxiety, Anterior hypopituitarism, Short stature ORPHA:442
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Lethargy, Pulmonary arterial hypertension OMIM:619064
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Splenomegaly, Failure to thrive, Hydrocephalus OMIM:269920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Poor head control, Progressive microcephaly, Hydrocephalus, Respiratory insufficiency due to musc... OMIM:615249
Cockayne Syndrome Type 3
Progressive microcephaly, Astrocytosis, Keratoconjunctivitis sicca, Abnormal myelination, Enamel ... ORPHA:90324
Rheumatic Fever
Myocarditis, Endocarditis, Respiratory insufficiency, Arthritis, Sinusitis, Recurrent pharyngitis... ORPHA:3099
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Respiratory insufficiency, Apnea, Ventriculomegaly, Respiratory fa... OMIM:608836
Intellectual Developmental Disorder, Autosomal Dominant 56
Secondary microcephaly, Delayed myelination, Lateral ventricle dilatation, Bradykinesia, Delayed ... OMIM:617854
Giant Axonal Neuropathy 1, Autosomal Recessive
Macrocephaly, Proximal muscle weakness, Lateral ventricle dilatation, Distal muscle weakness, Fac... OMIM:256850
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Chronic sinusitis, Bronchiectasis, Emphysema, Recurrent bronchitis OMIM:604571
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Eczematoid dermatitis, Atypical or prolonged hepatitis, Oligoclonal T cell ... ORPHA:83471
Isovaleric Acidemia
Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia, Lethargy, Coma OMIM:243500
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum ORPHA:250972
Fanconi Anemia, Complementation Group I
Colpocephaly, Decreased body weight, Bone marrow hypocellularity, Intrauterine growth retardation... OMIM:609053
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Malar flattening, Short stature, Ventriculomegaly, Agenesis of corpus callosum OMIM:218350
Mucopolysaccharidosis Type 6
Chronic otitis media, Disproportionate short-trunk short stature, Failure to thrive, Sinusitis, R... ORPHA:583
Intellectual Developmental Disorder, Autosomal Dominant 48
Macrocephaly, Intrauterine growth retardation, Lateral ventricle dilatation, Dilated fourth ventr... OMIM:617751
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Macrocephaly, Hydrocephalus ORPHA:83473
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Head-banging, Macrocephaly, Overweight, Hydrocephalus, Short stature, Lateral ventricle dilatatio... OMIM:619575
Good Syndrome
Dyspnea, Anemia, Cough, Sinusitis, Recurrent skin infections, Thrombocytopenia, Bronchiectasis, A... ORPHA:169105
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Hydrocephalus, Anxiety, Dandy-Walker malformation, Short stature, R... ORPHA:459061
Mitochondrial Complex I Deficiency, Nuclear Type 1
Poor head control, Increased CSF protein concentration, Respiratory insufficiency, Failure to thr... OMIM:252010
Yellow Nail Syndrome
Pulmonary arterial hypertension, Dyspnea, Cough, Sinusitis, Bronchiectasis, Rhinitis ORPHA:662
Thanatophoric Dysplasia
Macrocephaly, Hydrocephalus, Respiratory insufficiency, Intrauterine growth retardation, Ventricu... ORPHA:2655
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tracheomalacia, Astrocytosis, Increased CSF protein concentration, Hypoventilation, Failure to th... OMIM:203700
Crigler-Najjar Syndrome
Infectious encephalitis, Lethargy, Ophthalmoparesis ORPHA:205
Classic Galactosemia
Delayed puberty, Anxiety, Lethargy, Abnormal erythrocyte enzyme level ORPHA:79239
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology, Microcephaly, Hydrocephalus ORPHA:398189
Granulomatosis With Polyangiitis
Chronic otitis media, Keratitis, Granulomatosis, Respiratory insufficiency, Cough, Uveitis, Episc... OMIM:608710
Typhoid
Skin rash, Cough, Infectious encephalitis, Epistaxis, Lethargy, Splenomegaly, Coma ORPHA:99745
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Macrocephaly, Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation, Ven... OMIM:618291
Microsporidiosis
Peritonitis, Myocarditis, Pharyngitis, Cachexia, Abnormality of the spleen, Decreased proportion ... ORPHA:2552
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Decreased CSF glutamine concentration, CNS hypomyelination, Latera... OMIM:610015
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Poor head control, Leukocytosis, Extramedullary hematopoiesis, Hydrocephalus,... OMIM:259720
Osteopetrosis, Autosomal Recessive 1
Macrocephaly, Hydrocephalus, Anemia, Calvarial osteosclerosis, Ophthalmoparesis, Failure to thriv... OMIM:259700
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Short stature, Irritability, Failure to thrive ORPHA:2089
Medulloblastoma
Hydrocephalus, Irritability, Total ophthalmoplegia, Lethargy, Progressive macrocephaly ORPHA:616
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Benign Samaritan Congenital Myopathy
Lethargy, Abnormal respiratory system physiology ORPHA:324581
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Macrocephaly, Hydrocephalus, Malar flattening, Mandibular prognathia, Abnormal dental enamel morp... ORPHA:2180
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Emotional lability, Short stature, Impaired T cell function, Failure to thrive, Irritability, Let... OMIM:201100
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity, Optic neuritis, Increased CSF protein concentration, Diap... ORPHA:83597
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Lethargy ORPHA:95717
Optic Pathway Glioma
Ophthalmoplegia, Growth delay, Fatigable weakness, Hydrocephalus ORPHA:2086
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Sudden episodic apnea, Irritability, Muscle weakness, Microcephaly, Le... ORPHA:159
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Hydrocephalus, Congenital, X-Linked
Macrocephaly, Aqueductal stenosis, Agenesis of corpus callosum, Hydrocephalus OMIM:307000
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Colpocephaly, Retrognathia, Hydrocephalus, Micrognathia, Ventriculomegaly, Growth delay, Agenesis... OMIM:620156
Emanuel Syndrome
Hydrocephalus, Intrauterine growth retardation, Chronic oral candidiasis, Failure to thrive, Vent... OMIM:609029
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, CNS demyelination, Short stature, Microcephaly, Growth delay, Decreased body weigh... OMIM:614886
Congenital Muscular Dystrophy, Fukuyama Type
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly ORPHA:272
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Lower limb muscle weakness, Failure to thrive in infancy, Progressive ... ORPHA:746
Whim Syndrome
Severe periodontitis, Pharyngitis, Lymphadenitis, Lymphopenia, Parotitis, Sinusitis, Recurrent pn... ORPHA:51636
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Agenesis of corpus callosum, Hydrocephalus OMIM:617542
Pelizaeus-Merzbacher Disease, Connatal Form
Poor head control, Cerebral hypomyelination, Abnormal myelination, Short stature, Failure to thri... ORPHA:280210
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Poor head control, Primary microcephaly, Secondary microcephaly, Abnor... ORPHA:289266
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Spinal dysraphism, Hydrocephalus, Meningocele, Mandibular prognathia, Intrauterine... ORPHA:1908
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Zygomycosis
Peritonitis, Myocarditis, Colitis, Gastritis, Pneumothorax, Splenic abscess, Epistaxis, Endocardi... ORPHA:73263
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Failure to thrive, Sleep apnea, Microcephaly, Pleural effusion, Ast... OMIM:618606
Chiari Malformation Type Ii
Cervical myelopathy, Spina bifida, Hydrocephalus, Myelomeningocele, Inspiratory stridor, Agenesis... OMIM:207950
Progressive Non-Fluent Aphasia
Anxiety, Astrocytosis ORPHA:100070
Wiskott-Aldrich Syndrome
Chronic otitis media, Chronic pulmonary obstruction, Hemolytic anemia, Epistaxis, Dyspnea, Abnorm... ORPHA:906
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Malar flattening, Micrognathia, Laryngomalacia, Obesity ORPHA:171839
Galactosemia
Lethargy, Abnormal erythrocyte enzyme level, Failure to thrive ORPHA:352
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Monosomy 18Q
Biparietal narrowing, Slender build, Hydrocephalus, Mandibular prognathia, Decreased circulating ... ORPHA:1600
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Muscle weakness, Necrotizing enterocolitis, Microcephaly, Tachypnea, Lethargy, Respiratory arrest OMIM:201475
3-Hydroxy-3-Methylglutaric Aciduria
Tachypnea, Leukocytosis, Apathy, Leukopenia, Anemia, Apnea, Acute pancreatitis, Microcephaly, Hyp... ORPHA:20
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Irritability, Lethargy, Failure to thrive, Coma OMIM:237300
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macrocephaly, Hydrocephalus OMIM:300886
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Tenorio Syndrome
Emotional lability, Macrocephaly, Hydrocephalus, Recurrent aphthous stomatitis, Anxiety, Keratoco... OMIM:616260
Scrub Typhus
Myocarditis, Reduced consciousness/confusion, Dyspnea, Skin rash, Restrictive ventilatory defect,... ORPHA:83317
Griscelli Syndrome
Encephalocele, Leukopenia, Hydrocephalus, Abnormality of neutrophils, Bone marrow hypocellularity... ORPHA:381
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Lateral ventricle dilatation OMIM:618890
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatosplenomegaly, Colpocephaly, Small for gestational age, Intrauterine growth retardation, Fai... OMIM:614866
Ciliary Dyskinesia, Primary, 25
Neonatal respiratory distress, Chronic pulmonary obstruction, Productive cough, Chronic rhinitis,... OMIM:615482
Polymicrogyria Due To Tubb2B Mutation
Agenesis of corpus callosum, Microcephaly, Lateral ventricle dilatation ORPHA:300573
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Chronic rhinitis, Short stature, Decreased nasal nitric oxide, Bro... OMIM:612649
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Skin rash, Autoimmune thrombocytopenia, Granuloma, Disprop... ORPHA:1855
Pettigrew Syndrome
Hydrocephalus, Aqueductal stenosis, Mandibular prognathia, Calvarial osteosclerosis, Ventriculome... OMIM:304340
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Small for gestational age, Stomatitis, Megaloblastic anemia, Skin rash, Anemia, Short stature, Fa... OMIM:277380
Coach Syndrome 2
Apneic episodes in infancy, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Microscopic Polyangiitis
Peritonitis, Skin rash, Pancreatitis, Uveitis, Arthritis, Episcleritis, Sinusitis, Epistaxis, Inc... ORPHA:727
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Hypercalcemia, Infantile, 1
Lethargy, Weight loss, Failure to thrive OMIM:143880
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Malar flattening, Intrauterine growth retardation, Failure to thrive, Microcephaly... OMIM:612940
Bresek Syndrome
Hydrocephalus, Intrauterine growth retardation, Neonatal death, Microcephaly, Growth delay ORPHA:85284
Symptomatic Form Of Hfe-Related Hemochromatosis
Apathy, Arthritis, Muscle weakness, Lethargy, Splenomegaly, Weight loss ORPHA:465508
Dworschak-Punetha Neurodevelopmental Syndrome
Colpocephaly, Agenesis of corpus callosum, Microcephaly, Dysplastic corpus callosum OMIM:619955
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Aggressive behavior, Hyperactivity OMIM:612716
Desmosterolosis
Macrocephaly, Retrognathia, Severe short stature, Hydrocephalus, Intrauterine growth retardation,... ORPHA:35107
Edinburgh Malformation Sy