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Gene: Slc12a5 MGI:1862037

Gene Summary

Name:

solute carrier family 12, member 5

Synonyms:

KCC2

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	Allele	Zyg	Life Stage	P Value
embryonic growth retardation	Slc12a5^em1(IMPC)Mbp	HET	E15.5	0.00
decreased bone mineral content	Slc12a5^em1(IMPC)Mbp	HET	Early adult	9.17×10^-05
enlarged spleen	Slc12a5^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta morphology	Slc12a5^em1(IMPC)Mbp	HOM	E15.5	0.00
edema	Slc12a5^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta vasculature	Slc12a5^em1(IMPC)Mbp	HOM	E15.5	0.00
impaired glucose tolerance	Slc12a5^em1(IMPC)Mbp	HET	Early adult	3.99×10^-07
abnormal skin morphology	Slc12a5^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal jejunum morphology	Slc12a5^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal colon morphology	Slc12a5^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal stomach morphology	Slc12a5^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal spleen morphology	Slc12a5^em1(IMPC)Mbp	HET	Early adult	0.00
microphthalmia	Slc12a5^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta morphology	Slc12a5^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal duodenum morphology	Slc12a5^em1(IMPC)Mbp	HET	Early adult	0.00
hemorrhage	Slc12a5^em1(IMPC)Mbp	HOM	E15.5	0.00
preweaning lethality, complete penetrance	Slc12a5^em1(IMPC)Mbp	HOM	Early adult	0.00
small spleen	Slc12a5^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal blood vessel morphology	Slc12a5^em1(IMPC)Mbp	HOM	E15.5	0.00

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lacZ Expression

Expression data not available

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 Morphology Embryo E14.5-E15.5

Images

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

40 Images

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Human diseases caused by Slc12a5 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.

Human diseases associated with Slc12a5 (3 diseases)
Human diseases predicted to be associated with Slc12a5 (1601 diseases)

The table below shows human diseases associated to Slc12a5 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Developmental And Epileptic Encephalopathy 34	Seizure, Inability to walk, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure,...	OMIM:616645
Malignant Migrating Focal Seizures Of Infancy	Myoclonic seizure, Inability to walk, Epileptic spasm, Bilateral tonic-clonic seizure with focal ...	ORPHA:293181
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	OMIM:616685

The table below shows human diseases predicted to be associated to Slc12a5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Photoparoxysmal Response 1	EEG with photoparoxysmal response	OMIM:132100
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups	EEG abnormality	OMIM:130300
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon	EEG abnormality	OMIM:130200
Epilepsy, Benign Occipital	EEG abnormality, Seizure	OMIM:132090
Epilepsy, Reading	EEG abnormality, Seizure	OMIM:132300
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Myoclonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizur...	OMIM:619964
Developmental And Epileptic Encephalopathy 15	Myoclonic seizure, Inability to walk, Focal clonic seizure, Epileptic spasm, Tonic seizure, Hypsa...	OMIM:615006
Epilepsy, Familial Adult Myoclonic, 3	Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl...	OMIM:613608
Epilepsy, Familial Adult Myoclonic, 1	EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s...	OMIM:601068
Epilepsy, Familial Temporal Lobe, 1	Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar...	OMIM:600512
Epilepsy, Familial Temporal Lobe, 5	EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aw...	OMIM:614417
Epilepsy, Familial Adult Myoclonic, 4	Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Enhanceme...	OMIM:615127
Developmental And Epileptic Encephalopathy 31A	Myoclonic seizure, Difficulty walking, Epileptic spasm, Inability to walk, Tonic seizure, Hypsarr...	OMIM:616346
Perioral Myoclonia With Absences	Falls, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with...	ORPHA:139426
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia	ORPHA:22
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur...	OMIM:617831
Benign Familial Infantile Epilepsy	Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a...	ORPHA:306
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, Seizure,...	OMIM:245570
Developmental And Epileptic Encephalopathy 94	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:615369
Epilepsy, Progressive Myoclonic, 8	Falls, Limb ataxia, Myoclonus, EEG with photoparoxysmal response, Truncal ataxia, Gait disturbanc...	OMIM:616230
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ...	OMIM:607682
Developmental And Epileptic Encephalopathy 59	Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilater...	OMIM:617904
Myoclonic Epilepsy, Familial Infantile	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,...	OMIM:605021
Continuous Spikes And Waves During Sleep	Myoclonic absence seizure, Continuous spike and waves during slow sleep, Typical absence seizure,...	ORPHA:725
Epilepsy, Progressive Myoclonic 7	Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Bilateral tonic-cloni...	OMIM:616187
Developmental And Epileptic Encephalopathy 104	Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilate...	OMIM:619970
Myoclonic Epilepsy Of Unverricht And Lundborg	Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys...	OMIM:254800
Epilepsy, Progressive Myoclonic, 6	Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, EEG with spi...	OMIM:614018
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Short stature, Bilateral tonic-clonic seizure, Inability to walk	OMIM:619639
Stxbp1-Related Encephalopathy	EEG with abnormally slow frequencies, Ataxia, Generalized myoclonic seizure, Focal impaired aware...	ORPHA:599373
Epilepsy, Myoclonic Juvenile	Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen...	OMIM:254770
Developmental And Epileptic Encephalopathy 33	Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Hypsarrhythmia, Bilateral t...	OMIM:616409
Chromosome 15Q11-Q13 Duplication Syndrome	Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Truncal ataxia, Unsteady gait	OMIM:608636
Episodic Ataxia, Type 5	Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ...	OMIM:613855
Developmental And Epileptic Encephalopathy 67	Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Gait disturbanc...	OMIM:618141
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Gait ataxia, Absence...	OMIM:618587
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Developmental And Epileptic Encephalopathy 26	Focal impaired awareness seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizur...	OMIM:616056
Lennox-Gastaut Syndrome	Falls, EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Generalized tonic seizure...	ORPHA:2382
Arthrogryposis Multiplex Congenita 6	Akinesia, Death in childhood, Death in infancy, Neonatal death, Arthrogryposis multiplex congenit...	OMIM:619334
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:620465
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Focal sensory seizure with visual features, Myoclonus, Bilateral tonic-clonic seizure, Interictal...	OMIM:615400
Developmental And Epileptic Encephalopathy 12	Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:613722
Landau-Kleffner Syndrome	EEG with frontal focal spikes, Non-convulsive status epilepticus without coma, EEG with generaliz...	ORPHA:98818
Autosomal Dominant Epilepsy With Auditory Features	Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons...	ORPHA:101046
Developmental And Epileptic Encephalopathy 9	Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca...	OMIM:300088
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, EEG abnormality, Bilateral tonic-clonic seizure	OMIM:614115
Centralopathic Epilepsy	Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG wit...	OMIM:117100
Developmental And Epileptic Encephalopathy 53	Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsar...	OMIM:617389
Dravet Syndrome	Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz...	OMIM:607208
Epilepsy, Familial Temporal Lobe, 8	Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons...	OMIM:616461
Developmental And Epileptic Encephalopathy 43	Ataxia, Myoclonic seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, Aton...	OMIM:617113
Familial Focal Epilepsy With Variable Foci	Interictal EEG abnormality, Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizur...	ORPHA:98820
Developmental And Epileptic Encephalopathy 54	Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor...	OMIM:617391
Cerebellar Atrophy, Developmental Delay, And Seizures	EEG abnormality, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:617643
Spinocerebellar Ataxia, Autosomal Recessive 12	Limb ataxia, Gait ataxia, EEG abnormality, Bilateral tonic-clonic seizure, Ataxia, Growth delay	OMIM:614322
Developmental And Epileptic Encephalopathy 74	Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon...	OMIM:618396
Alpha-Heavy Chain Disease	Ascites, Abnormal small intestine morphology, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Epilepsy, Idiopathic Generalized	Bilateral tonic-clonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myoclonic se...	OMIM:600669
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Continuous spike and waves during slow sleep, EEG with generalized epileptiform discharges, Seizu...	ORPHA:163721
Developmental And Epileptic Encephalopathy 91	Myoclonic seizure, Seizure, Epileptic spasm, Atypical absence seizure, Tonic seizure, Hypsarrhyth...	OMIM:617711
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Generalized myoclonic seizure, EEG with burst suppression, Clonic seizure, Bilateral tonic-clonic...	OMIM:266100
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Developmental And Epileptic Encephalopathy 13	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:614558
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral ...	OMIM:619157
Developmental Delay With Or Without Epilepsy	Ataxia, EEG with frontal focal spikes, Myoclonic seizure, Spastic gait, Seizure, Generalized non-...	OMIM:620540
Epilepsy With Eyelid Myoclonia	Continuous spike and waves during slow sleep, Limb myoclonus, Generalized non-motor (absence) sei...	ORPHA:139431
Isolated Focal Cortical Dysplasia	Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ...	ORPHA:65683
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia	OMIM:162350
Glycine Encephalopathy 2	EEG with burst suppression, Respiratory failure	OMIM:620398
Developmental And Epileptic Encephalopathy 42	Ataxia, Convulsive status epilepticus, Myoclonic seizure, Tonic seizure, EEG abnormality, Focal t...	OMIM:617106
Developmental And Epileptic Encephalopathy 24	Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a...	OMIM:615871
Intellectual Developmental Disorder With Seizures And Language Delay	Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Increas...	OMIM:619000
Jejunal Atresia	Abnormal abdomen morphology, Jejunal atresia	OMIM:243600
Developmental And Epileptic Encephalopathy 34	Seizure, Inability to walk, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure,...	OMIM:616645
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Myoclonus, Prolonged somatosensory evoked potentials, Focal hemifacial clonic seizure, Bilateral ...	OMIM:608105
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Epilepsy, Childhood Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:600131
Febrile Seizures, Familial, 8	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:607681
Benign Familial Neonatal-Infantile Seizures	Continuous spike and waves during slow sleep, Neonatal seizure, Episodic ataxia, Focal clonic sei...	ORPHA:140927
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:610003
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t...	ORPHA:208441
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Loss of ambulation, Death in adolescence, Respiratory insufficiency due to muscle weakness, Flexi...	OMIM:300717
Epilepsy, Nocturnal Frontal Lobe, 2	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:603204
Developmental And Epileptic Encephalopathy 6B	Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ...	OMIM:619317
Epilepsy, Progressive Myoclonic, 9	Status epilepticus, Myoclonus, Gait ataxia, Bilateral tonic-clonic seizure, Action myoclonus, Gen...	OMIM:616540
Episodic Ataxia, Type 9	Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Status e...	OMIM:618924
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia	OMIM:619191
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Seizures, Benign Familial Infantile, 3	Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca...	OMIM:607745
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myo...	OMIM:607631
Muscular Hypertonia, Lethal	Pneumonia, Hypokinesia, Death in infancy, Umbilical hernia	OMIM:254120
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	EEG abnormality, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:617171
Developmental And Epileptic Encephalopathy 109	Myoclonic seizure, Typical absence seizure, Crouch gait, Intrauterine growth retardation, Myoclon...	OMIM:620145
Progressive Myoclonic Epilepsy Type 3	Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:263516
Yoon-Bellen Neurodevelopmental Syndrome	Inability to walk, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, Ataxia, Gene...	OMIM:619701
Juvenile Absence Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:1941
Developmental And Epileptic Encephalopathy 98	EEG with burst suppression, Refractory status epilepticus, Focal-onset seizure, Clonic seizure, B...	OMIM:619605
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:611364
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Bilateral tonic-clonic seizure, Ataxia	OMIM:617709
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:604403
Developmental And Epileptic Encephalopathy 11	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure	OMIM:613721
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic status epilepticus,...	OMIM:611726
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Developmental And Epileptic Encephalopathy 27	Myoclonic seizure, Seizure, Epileptic spasm, Infantile spasms, Myoclonus, Hypsarrhythmia, Bilater...	OMIM:616139
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Myoclonus, Status epilepticus without prominent motor symptoms, Bilateral tonic-clonic seizure, A...	OMIM:204300
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Focal impaired awareness seizure, Seizure, Difficulty walking, Delayed menarche, Inability to wal...	ORPHA:330050
Developmental And Epileptic Encephalopathy 47	Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait disturbance, Hypsarrhyth...	OMIM:617166
Mitochondrial Complex I Deficiency, Nuclear Type 12	Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Genera...	OMIM:301020
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset	OMIM:611630
Hyperekplexia 4	Umbilical hernia, Inguinal hernia, Distal arthrogryposis, Hypsarrhythmia, Camptodactyly, Flexion ...	OMIM:618011
Seizures, Benign Familial Infantile, 5	Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617080
Developmental And Epileptic Encephalopathy 112	Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ...	OMIM:620537
Unilateral Hemispheric Polymicrogyria	Generalized myoclonic seizure, Infantile spasms, Focal atonic seizure, Bilateral tonic-clonic sei...	ORPHA:101071
Miller-Dieker Syndrome	EEG abnormality, Omphalocele, Ataxia	ORPHA:531
Developmental And Epileptic Encephalopathy 30	Bilateral tonic-clonic seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure	OMIM:616341
Developmental Delay And Seizures With Or Without Movement Abnormalities	Myoclonic absence seizure, EEG abnormality, Bilateral tonic-clonic seizure, Ataxia, Short stature...	OMIM:617836
Developmental And Epileptic Encephalopathy 63	Myoclonic seizure, EEG with generalized epileptiform discharges, Seizure, Generalized-onset seizu...	OMIM:617976
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Gastric varix, Splenomegaly, Hepatocellular carcinoma	OMIM:613490
Lissencephaly 10	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:618873
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel...	OMIM:618357
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Generalized Epilepsy With Febrile Seizures-Plus	Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur...	ORPHA:36387
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:616172
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly, Abnormal bone structure	ORPHA:46532
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Seizure, Inability to walk, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait	OMIM:620317
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:253300
Glycosylphosphatidylinositol Biosynthesis Defect 15	Myoclonic seizure, Generalized non-motor (absence) seizure, Inability to walk, Gait ataxia, Dysme...	OMIM:617810
Malignant Migrating Focal Seizures Of Infancy	Myoclonic seizure, Inability to walk, Epileptic spasm, Bilateral tonic-clonic seizure with focal ...	ORPHA:293181
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Bilateral tonic-clonic seizure, Seizure	OMIM:614499
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati...	ORPHA:240094
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:612899
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Short stature, Broad-based gait, Gait ataxia, Bilateral tonic-clonic seizure	OMIM:617862
Immunodeficiency 95	Recurrent viral pneumonia, Ground-glass opacification, Recurrent viral upper respiratory tract in...	OMIM:619773
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait ataxia, Dysmetria, Tonic seizure, Gait disturbance, Bilateral tonic-cloni...	OMIM:618090
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten...	ORPHA:2978
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus, Bilateral tonic-clonic seizure	OMIM:604827
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Ascite...	ORPHA:2198
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Tyrosinemia Type 1	Hepatomegaly, Rickets of the lower limbs, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Developmental And Epileptic Encephalopathy 52	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Focal hemicl...	OMIM:617350
Mitchell-Riley Syndrome	Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ...	OMIM:615710
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hypoglycemia, Pyloric stenosis	ORPHA:664
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Seizure, Myoclonus, Gait ataxia, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure	OMIM:615362
Omphalocele	Omphalocele	ORPHA:660
Fetal Akinesia Deformation Sequence	Hypokinesia, Respiratory insufficiency, Camptodactyly of finger, Akinesia, Multiple joint contrac...	ORPHA:994
Febrile Seizures, Familial, 5	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:609255
Febrile Seizures, Familial, 6	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:609253
Febrile Seizures, Familial, 4	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:602477
Febrile Seizures, Familial, 1	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:121210
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Dystonia 31	Difficulty walking, Abnormal posturing	OMIM:619565
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	OMIM:616685
Developmental And Epileptic Encephalopathy 93	Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to wa...	OMIM:618012
Salt And Pepper Developmental Regression Syndrome	Myoclonus, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Status epilepticus...	OMIM:609056
Female Restricted Epilepsy With Intellectual Disability	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:101039
Congenital Myopathy 12	Joint contracture of the hand, Akinesia, Death in infancy, Pulmonary artery stenosis, Respiratory...	OMIM:612540
Epilepsy, Familial Adult Myoclonic, 2	EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s...	OMIM:607876
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Omphalocele	OMIM:258320
Developmental And Epileptic Encephalopathy 71	EEG with burst suppression, Respiratory failure, Respiratory insufficiency	OMIM:618328
Intellectual Developmental Disorder, Autosomal Dominant 5	Bilateral tonic-clonic seizure, Myoclonic absence seizure, EEG abnormality, Seizure	OMIM:612621
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Seizure, Resting tremor, Obesit...	ORPHA:3077
Polymicrogyria, Bilateral Temporooccipital	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei...	OMIM:612691
Developmental And Epileptic Encephalopathy 103	Ataxia, Myoclonic seizure, Continuous spike and waves during slow sleep, Generalized non-motor (a...	OMIM:619913
Myoclonic Epilepsy Of Infancy	EEG with irregular generalized spike and wave complexes, Generalized non-motor (absence) seizure,...	ORPHA:86909
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Seizure, Intrauterine growth retardation, Gait imbalance, Gait ataxia, Bilateral tonic-clonic sei...	ORPHA:488635
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia, Inability to walk, Abnormal peripheral action potential amplitude, Respirat...	ORPHA:90117
Spinocerebellar Ataxia Type 27	Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Truncal ataxia	ORPHA:98764
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613863
Familial Infantile Myoclonic Epilepsy	Ataxia, Limb myoclonus, Seizure, Interictal EEG abnormality, Focal-onset seizure, Bilateral tonic...	ORPHA:352582
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl...	ORPHA:79126
Neuropathy, Congenital Hypomyelinating, 2	Inability to walk, Decreased motor nerve conduction velocity, Hypokinesia, Respiratory insufficie...	OMIM:618184
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Inability to walk, Broad-based gait, Infantile spasms, Bilateral tonic-clonic seizure	OMIM:618470
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Neonatal respiratory distress, Broad-based gait, Atelectasis, Ground-glass opacification, Cystic ...	OMIM:610978
Lethal Congenital Contracture Syndrome 2	Akinesia, Arthrogryposis multiplex congenita, Respiratory failure	OMIM:607598
Developmental And Epileptic Encephalopathy 99	Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s...	OMIM:619606
Rasmussen Subacute Encephalitis	Epilepsia partialis continua, Focal sensory seizure with somatosensory features, Continuous spike...	ORPHA:1929
Seizures, Benign Familial Infantile, 1	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ...	OMIM:601764
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Alternating Hemiplegia Of Childhood 1	Choreoathetosis, Bilateral tonic-clonic seizure	OMIM:104290
Pontocerebellar Hypoplasia, Type 1C	Death in childhood, Respiratory failure, Joint contracture, Respiratory insufficiency	OMIM:616081
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Myoclonic seizure, Seizure, Inability to walk, Epileptic spasm, Myoclonus, Tonic seizure, Bilater...	OMIM:618497
Developmental And Epileptic Encephalopathy 37	Myoclonus, Focal hemiclonic seizure, Gait disturbance, Bilateral tonic-clonic seizure, Multifocal...	OMIM:616981
Kohlschutter-Tonz Syndrome	Myoclonic seizure, Seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Ataxia, Focal-onset s...	OMIM:226750
Unilateral Focal Polymicrogyria	EEG with frontal focal spikes, Seizure, Abnormality of somatosensory evoked potentials, Bilateral...	ORPHA:268947
Late Infantile Neuronal Ceroid Lipofuscinosis	Abnormal amplitude of flash visual evoked potentials, Ataxia, EEG with generalized slow activity,...	ORPHA:168491
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob...	ORPHA:66624
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Difficulty walking, Inability t...	ORPHA:2590
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Epilepsy, Familial Temporal Lobe, 2	Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate...	OMIM:608096
Polyposis of gastric fundus without polyposis coli	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure	OMIM:617863
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ...	OMIM:604233
Immunodeficiency 104	Gastroesophageal reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia	OMIM:608971
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage...	OMIM:601346
Oxoglutarate Dehydrogenase Deficiency	Falls, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Unsteady gait	OMIM:203740
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Guanidinoacetate Methyltransferase Deficiency	Ataxia, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atonic seizure, A...	ORPHA:382
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g...	ORPHA:2302
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absenc...	ORPHA:79137
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, EEG abnormality,...	OMIM:271980
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver...	ORPHA:157798
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Interface hepa...	OMIM:243150
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Duodenal atresia, Polysplenia	OMIM:619608
Severe Neonatal-Onset Encephalopathy With Microcephaly	Seizure, EEG with focal slow activity, Bilateral tonic-clonic seizure, Multifocal epileptiform di...	ORPHA:209370
Gombo Syndrome	Microphthalmia	OMIM:233270
Perry Syndrome	Respiratory arrest, Short stepped shuffling gait, Akinesia, Respiratory insufficiency	OMIM:168605
Congenital Myopathy 9A	Akinesia, Death in infancy	OMIM:618822
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Foxg1 Syndrome	Difficulty walking, Inability to walk, Infantile spasms, Myoclonus, Severe postnatal growth retar...	ORPHA:561854
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Developmental And Epileptic Encephalopathy 108	Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n...	OMIM:620115
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	EEG abnormality, Convulsive status epilepticus, Focal-onset seizure, Inability to walk	OMIM:618760
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Lissencephaly 3	Bilateral tonic-clonic seizure, Generalized tonic seizure, Seizure, Ataxia	OMIM:611603
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T lymphocytopenia	OMIM:619164
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Short stature, Myoclonus, Bilateral tonic-clonic seizure, Ataxia	OMIM:619065
Developmental And Epileptic Encephalopathy 41	Myoclonic seizure, Inability to walk, Epileptic spasm, Status epilepticus without prominent motor...	OMIM:617105
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia	ORPHA:391411
Fetal Akinesia Syndrome, X-Linked	Hypokinesia, Stillbirth	OMIM:300073
Bronchopulmonary Dysplasia	Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration, Respiratory failure re...	ORPHA:70589
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im...	OMIM:619428
Fetal Encasement Syndrome	Bilateral trilobed lung, Congenital diaphragmatic hernia, Omphalocele	OMIM:613630
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:617924
Developmental And Epileptic Encephalopathy 23	Infantile spasms, Myoclonus, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Atoni...	OMIM:615859
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc...	ORPHA:263665
Developmental And Epileptic Encephalopathy 102	Generalized myoclonic seizure, Inability to walk, Tonic seizure, Focal emotional seizure with lau...	OMIM:619881
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast...	OMIM:619079
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Genera...	ORPHA:289266
Severe X-Linked Mitochondrial Encephalomyopathy	Increased connective tissue, Hypokinesia, Respiratory insufficiency	ORPHA:238329
Diabetes Mellitus, Permanent Neonatal, 2	Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure with focal onset, Bilateral ton...	OMIM:618856
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia	ORPHA:2141
Congenital Arthrogryposis With Anterior Horn Cell Disease	Difficulty walking, Inability to walk, Neonatal death, Respiratory insufficiency due to muscle we...	OMIM:611890
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, E...	OMIM:609446
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Epilepsy, Familial Temporal Lobe, 6	Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ...	OMIM:615697
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abno...	ORPHA:79301
Epilepsy, Familial Focal, With Variable Foci 4	Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb...	OMIM:617935
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate...	ORPHA:363549
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Spastic gait, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Short stature	OMIM:615031
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Developmental And Epileptic Encephalopathy 106	Postnatal growth retardation, Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral to...	OMIM:620028
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Progressive cerebellar ataxia	ORPHA:98773
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno...	ORPHA:64743
Intellectual Developmental Disorder, X-Linked 1	Bilateral tonic-clonic seizure, Seizure, Atonic seizure	OMIM:309530
Cerebrooculofacioskeletal Syndrome 3	Edema, Microphthalmia	OMIM:616570
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia	ORPHA:3004
Non-Syndromic Metopic Craniosynostosis	Omphalocele	ORPHA:3366
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607628
Seizures, Benign Familial Neonatal, 1	Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ...	OMIM:121200
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Inability to walk, Respiratory failure, Respiratory insufficiency	ORPHA:266
Congenital Disorder Of Glycosylation, Type Iaa	Intrauterine growth retardation, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:617082
Bilateral Generalized Polymicrogyria	Generalized myoclonic seizure, Typical absence seizure, Generalized-onset seizure, Infantile spas...	ORPHA:208447
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Falls, Seizure, Impaired tandem gait, Gait disturbance, Bilateral tonic-clonic seizure	OMIM:300423
Seizures, Benign Familial Infantile, 2	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:605751
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hep...	OMIM:612714
Polymicrogyria, Bilateral Perisylvian, X-Linked	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:300388
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Bilateral tonic-clonic seizure, Ataxia	OMIM:618425
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Pseudodiastrophic Dysplasia	Omphalocele	ORPHA:85174
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia, Intestinal atresia, Duodenal atresia	ORPHA:3405
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:600176
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Febrile seizure (within the age range of 3 months to 6 years), Inability to walk, Gait ataxia, To...	OMIM:618917
Amyotrophic Lateral Sclerosis 28	Difficulty walking, Respiratory failure	OMIM:620452
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Inability to walk, Decreased nerve conduction velocity, Abnormal peripheral action potential ampl...	ORPHA:457205
Congenital Myopathy 10A, Severe Variant	Respiratory insufficiency, Abnormal motor nerve conduction velocity, Respiratory failure, Camptod...	OMIM:614399
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Neonatal respiratory distress, Atelectasis	OMIM:267450
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Absent pubertal growth spurt, Focal myoclonic seizure, Seizure, Difficulty walking, Bilateral ton...	ORPHA:464282
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Bilateral tonic-clonic seizure	ORPHA:139406
Clcn4-Related X-Linked Intellectual Disability Syndrome	Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Focal tonic seizur...	ORPHA:485350
Duodenal Atresia	Annular pancreas, Duodenal atresia, Abnormality of the pancreas	ORPHA:1203
Acalvaria	Omphalocele, Abnormal lung lobation	ORPHA:945
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Decreased cervical spine flexion due to contractures of posterior cer...	ORPHA:254361
Meconium Aspiration Syndrome	Neonatal asphyxia, Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Pneumothor...	ORPHA:70588
Febrile Seizures, Familial, 11	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:614418
Nemaline Myopathy 8	Flexion contracture, Respiratory failure, Death in infancy	OMIM:615348
Spinocerebellar Ataxia 21	Akinesia, Limb ataxia, Gait ataxia, Ataxia, Progressive cerebellar ataxia	OMIM:607454
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Myoclonic seizure, EEG with burst suppression, Myoclonus, Tonic seizure, Bilateral tonic-clonic s...	OMIM:617290
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Combined Oxidative Phosphorylation Deficiency 6	Hypokinesia, Respiratory insufficiency due to muscle weakness	OMIM:300816
Peho-Like Syndrome	Hypsarrhythmia, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:617507
Congenital Myopathy 14	Elbow flexion contracture, Knee flexion contracture, Hip contracture, Death in infancy, Respirato...	OMIM:618414
Developmental And Epileptic Encephalopathy 4	Generalized myoclonic seizure, Epileptic spasm, EEG with burst suppression, Generalized tonic sei...	OMIM:612164
Ceroid Lipofuscinosis, Neuronal, 3	Bilateral tonic-clonic seizure, Myoclonus, Loss of ambulation, Seizure	OMIM:204200
Fetal Valproate Spectrum Disorder	Omphalocele	ORPHA:1906
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episo...	OMIM:211600
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generali...	OMIM:618067
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Seizure, Difficulty walking, Gait ataxia, Dysmetria, EEG abnormality, Bilateral tonic-clonic seiz...	ORPHA:529665
Huntington Disease-Like 1	Abnormal posturing, Seizure, Gait ataxia, Dysmetria, Gait disturbance, EEG abnormality	ORPHA:157941
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Fanconi Anemia, Complementation Group W	Duodenal atresia, Polysplenia	OMIM:617784
Parkinson Disease 17	Akinesia	OMIM:614203
New-Onset Refractory Status Epilepticus	Focal aware motor seizure, Focal autonomic seizure, EEG with frontal epileptiform discharges, Myo...	ORPHA:363558
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Hypothyroidism, Congenital, Nongoitrous, 6	Broad-based gait, Omphalocele	OMIM:614450
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:620461
Arthrogryposis Multiplex Congenita 5	Neonatal respiratory distress, Umbilical hernia, Elbow flexion contracture, Akinesia, Inguinal he...	OMIM:618947
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Akinesia, Freezing of gait	OMIM:619911
Pontocerebellar Hypoplasia, Type 14	Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:619301
Kufor-Rakeb Syndrome	Akinesia, Gait disturbance, Hypokinesia, Ataxia	OMIM:606693
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Respiratory failure, Death in infancy	OMIM:225753
Classic Pantothenate Kinase-Associated Neurodegeneration	Tip-toe gait, Abnormal posturing, Seizure, Inability to walk, Gait disturbance	ORPHA:216866
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Seizure, Cognitive impairment, Exaggerate...	ORPHA:309246
Ghosal Hematodiaphyseal Dysplasia	Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly	ORPHA:1802
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology	OMIM:613502
Infant Acute Respiratory Distress Syndrome	Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Respiratory failure	ORPHA:70587
Multiple Pterygium Syndrome, Lethal Type	Flexion contracture, Akinesia, Pulmonary hypoplasia	OMIM:253290
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Crypt hyperplasia	OMIM:613217
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Rickets, Splenomegaly, Hepatomegaly, Cirrhosis, A...	OMIM:607765
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Focal impaired awareness seizure, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Statu...	OMIM:613970
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Cholesteryl Ester Storage Disease	Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix	ORPHA:75234
Mitochondrial Complex I Deficiency, Nuclear Type 15	Intrauterine growth retardation, Bilateral tonic-clonic seizure, Neonatal death	OMIM:618237
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar...	OMIM:265120
Boomerang Dysplasia	Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the lungs, Omphalocele	ORPHA:1263
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete...	OMIM:271500
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Abnormal intestine morphology, Villous atrophy	OMIM:251850
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Shuffling gait, Akinesia, Gait ataxia, Ataxia, Abnormal vestibulo-ocular reflex, Dysdiadochokinesis	ORPHA:247234
Gaucher Disease, Perinatal Lethal	Hypokinesia, Akinesia, Neonatal death, Arthrogryposis multiplex congenita, Pulmonary hypoplasia	OMIM:608013
Rolandic Epilepsy	EEG with irregular generalized spike and wave complexes, EEG with centrotemporal focal spike wave...	ORPHA:1945
Pontocerebellar Hypoplasia, Type 15	Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:619302
Alpers-Huttenlocher Syndrome	Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Choreoathetosis	ORPHA:726
Intermediate Nemaline Myopathy	Hypokinesia, Difficulty walking, Flexion contracture, Arthrogryposis multiplex congenita, Respira...	ORPHA:171433
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Co...	OMIM:613101
Corticobasal Syndrome	Akinesia, Gait disturbance	ORPHA:454887
Cerebral Creatine Deficiency Syndrome 2	Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Bilate...	OMIM:612736
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Respiratory insufficiency, Difficulty walking, Respiratory insufficiency due...	ORPHA:254875
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	EEG with generalized epileptiform discharges, Seizure, Inability to walk, EEG abnormality, Bilate...	ORPHA:488613
Autosomal Dominant Spastic Paraplegia Type 6	Gait disturbance, Bilateral tonic-clonic seizure	ORPHA:100988
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Broad-based gait, Seizure, Gait imbalance, Bilateral tonic-clonic seizure with generalized onset,...	ORPHA:98795
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Ataxia	OMIM:618637
Duodenal Atresia	Duodenal atresia	OMIM:223400
Dk1-Cdg	Seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, EEG with generalized s...	ORPHA:91131
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Abnormal intestine morphology, Lymphadenopathy, Intestinal l...	ORPHA:397596
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ...	OMIM:300635
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Dysdiadochokinesis, Myoclonus, Dysmetria, EEG abnormality, Bilateral tonic-clonic seizure, Ataxia...	ORPHA:313772
Neurodevelopmental Disorder With Involuntary Movements	Infantile spasms, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Athetosis, ...	OMIM:617493
Coproporphyria, Hereditary	Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyrin III:coproporphyrin...	OMIM:121300
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Generalized-onset seizure, EEG abnormality, Seizure, Bilateral tonic-clonic seizure	OMIM:604317
Developmental And Epileptic Encephalopathy 28	Ataxia, Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epileptic spasm, ...	OMIM:616211
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab...	OMIM:601847
Developmental And Epileptic Encephalopathy 90	EEG with burst suppression, Focal-onset seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, ...	OMIM:301058
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory insufficiency, Abnormality of connective tissue, Multiple joint contractures, Loss of...	ORPHA:370968
Nanophthalmos	Microphthalmia	ORPHA:35612
Dystonia 22, Juvenile-Onset	Dysmetria, Dysdiadochokinesis, Bilateral tonic-clonic seizure	OMIM:620453
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Umbilical hernia	OMIM:275100
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Recurrent res...	ORPHA:3348
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Osteoporosis, Osteolysis	ORPHA:100024
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Choreoathetosis, Bilateral tonic-clonic seizure, Episodic ataxia	ORPHA:53583
Brain Small Vessel Disease 2	Growth delay, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614483
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respiratory insuf...	ORPHA:60032
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Ceroid Lipofuscinosis, Neuronal, 10	Ataxia, Neonatal death, Respiratory failure, Respiratory insufficiency	OMIM:610127
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia	OMIM:601163
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Hypokinesia	OMIM:605407
Spastic Ataxia 5, Autosomal Recessive	Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia,...	OMIM:614487
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	EEG with abnormally slow frequencies, Inability to walk, Ataxia, Multifocal epileptiform discharg...	ORPHA:70472
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Villous atrophy	OMIM:615863
Lafora Disease	Ataxia, Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (a...	ORPHA:501
Diarrhea 12, With Microvillus Atrophy	Osteopenia, Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules	OMIM:619445
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ...	OMIM:619616
Congenital Disorder Of Glycosylation, Type Iiy	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:620200
Bile Acid Malabsorption, Primary, 1	Steatorrhea, Increased fecal bile acid, Fat malabsorption	OMIM:613291
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Spinocerebellar Ataxia Type 1	Abnormal nerve conduction velocity, Dysdiadochokinesis, Abnormality of somatosensory evoked poten...	ORPHA:98755
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Anemia, Steatorrhea, Bone-marrow foam cells, Esophageal varix	ORPHA:75233
Manganese Poisoning	Akinesia, Gait disturbance	ORPHA:306682
C1Q Deficiency 2	Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis	OMIM:620321
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Feingold Syndrome	Abnormality of the spleen, Esophageal atresia, Duodenal atresia, Annular pancreas	ORPHA:1305
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Congenital Disorder Of Glycosylation, Type Ib	Protein-losing enteropathy, Hepatic fibrosis, Villous atrophy, Hepatomegaly, Cirrhosis, Hyperinsu...	OMIM:602579
Infantile Cerebellar-Retinal Degeneration	Athetosis, Focal-onset seizure, Bilateral tonic-clonic seizure, Ataxia	OMIM:614559
Postencephalitic Parkinsonism	Akinesia, Diminished movement	ORPHA:97349
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Severe Canavan Disease	Bilateral tonic-clonic seizure, Seizure, Inability to walk	ORPHA:314911
Congenital Myopathy 21 With Early Respiratory Failure	Respiratory failure, Lipoid pneumonia, Inguinal hernia	OMIM:620326
Nanophthalmos 4	Microphthalmia	OMIM:615972
Spinocerebellar Ataxia 48	Dysmetria, Gait ataxia, Bilateral tonic-clonic seizure, Ataxia	OMIM:618093
Neurodegeneration With Brain Iron Accumulation 5	Akinesia	OMIM:300894
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Pneumocystosis	Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Interstiti...	ORPHA:723
Diarrhea 9	Villous atrophy	OMIM:618168
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypokinesia, Atelectasis, Respiratory insufficiency, Inability to walk, Increased connective tiss...	ORPHA:258
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos...	OMIM:610913
X-Linked Intellectual Disability, Hedera Type	Inability to walk, Dysmetria, Gait disturbance, Bilateral tonic-clonic seizure, Atonic seizure, U...	ORPHA:93952
Dentici-Novelli Neurodevelopmental Syndrome	Myoclonic seizure, Inability to walk, Epileptic spasm, Hypsarrhythmia, Bilateral tonic-clonic sei...	OMIM:619877
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Thro...	OMIM:300048
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Camptodactyly of toe, Omphalocele	OMIM:175700
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula	OMIM:221400
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Developmental And Epileptic Encephalopathy 61	Loss of ambulation, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Seizure	OMIM:617933
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory failure, Omphalocele, Pulmonary hypoplasia	OMIM:617895
Spondylometaphyseal Dysplasia, X-Linked	Knee flexion contracture, Respiratory failure, Hip contracture, Respiratory insufficiency	OMIM:313420
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Akinesia, Death in childhood	OMIM:619147
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection...	ORPHA:244
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ...	ORPHA:424019
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ...	OMIM:615237
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Seizure, Gait ataxia, Gait disturbance, Atypical absence status epilepticus, ...	ORPHA:225147
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly	ORPHA:2204
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Seizure, EEG with generalized sharp slow waves, Inability to walk, EEG with focal sharp w...	ORPHA:79243
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Flexion contracture, Arthrogryposis multiplex congenita, Respirato...	OMIM:616867
Dubin-Johnson Syndrome	Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome...	ORPHA:234
Classic Progressive Supranuclear Palsy Syndrome	Akinesia, Gait imbalance, Falls	ORPHA:240071
Chronic Diarrhea Due To Glucoamylase Deficiency	Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level	ORPHA:103907
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Cataracts, Spastic Paraparesis, And Speech Delay	Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot...	OMIM:619338
Distal Duplication 15Q	Omphalocele, Camptodactyly of finger	ORPHA:1707
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Congenital diaphragmatic hernia, Omphalocele, Flexion contracture, Pulmon...	OMIM:263210
Refractory Celiac Disease	Normocytic anemia, Protein-losing enteropathy, Jejunitis, Microcytic anemia, Villous atrophy, Abn...	ORPHA:398063
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia, Joint contracture	OMIM:225790
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Portal hypertension, Cholecys...	ORPHA:131
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p...	ORPHA:2357
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Parenchymal consolidation, Pleural effusion, Abnormal pulmonary thoracic imaging fin...	ORPHA:2902
Spinocerebellar Ataxia 29	Truncal titubation, Broad-based gait, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Dysmetria, Im...	OMIM:117360
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Myoclonic seizure, Seizure, Inability to walk, Bilateral tonic-clonic seizure, Growth delay	OMIM:615716
Spinocerebellar Ataxia With Epilepsy	Dysdiadochokinesis, Myoclonus, EEG with occipital epileptiform discharges, Dysmetria, Gait ataxia...	ORPHA:254881
Mpi-Cdg	Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Portal hypertension, H...	ORPHA:79319
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Secondary Short Bowel Syndrome	Volvulus, Cholestasis, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolo...	ORPHA:95427
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele	ORPHA:93267
Autosomal Recessive Frontotemporal Pachygyria	Bilateral tonic-clonic seizure, Seizure	ORPHA:329329
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Acute leukemia	ORPHA:281090
Gaucher Disease Type 2	Hepatomegaly, Dysphagia, Splenomegaly	ORPHA:77260
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Hypokinesia, Ataxia	OMIM:620007
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy	OMIM:618662
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Reduced bone mineral density	ORPHA:172
Hypercholanemia, Familial 1	Steatorrhea, Fat malabsorption, Rickets	OMIM:607748
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Neonatal respiratory distress, Recurrent sinusitis, Chronic bronchitis, Resp...	OMIM:608647
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Difficulty walking, Truncal ataxia, Bilateral tonic-clonic seizure, Waddling gait	ORPHA:369840
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Elevated pulmonary artery pressure, Edema	OMIM:178400
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia	ORPHA:2143
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Respiratory insufficiency, Neonatal death, Limb joint ...	OMIM:618186
Congenital Disorder Of Glycosylation, Type Iu	Neonatal respiratory distress, Congenital contracture, Hypokinesia, Death in infancy	OMIM:615042
Trigonocephaly 1	Omphalocele	OMIM:190440
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Striatal Degeneration, Autosomal Dominant 1	Gait disturbance, Dysdiadochokinesis, Hypokinesia	OMIM:609161
Mitochondrial Complex I Deficiency, Nuclear Type 28	Truncal ataxia, Akinesia, Choreoathetosis	OMIM:618249
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy	OMIM:619063
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N...	OMIM:245400
Lethal Osteosclerotic Bone Dysplasia	Respiratory failure	ORPHA:1832
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice	OMIM:619868
X-Linked Sideroblastic Anemia	Anemia, Glucose intolerance, Splenomegaly	ORPHA:75563
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Glycogen Storage Disease 0, Muscle	Bilateral tonic-clonic seizure	OMIM:611556
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Aceruloplasminemia	Akinesia, Limb ataxia, Gait ataxia, Ataxia	ORPHA:48818
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou...	ORPHA:329971
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Developmental And Epileptic Encephalopathy 18	Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se...	OMIM:615476
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Pulmonary artery atresia, Recurrent respiratory infections, Omphalocele, Pulmonary hypoplasia	OMIM:618316
Colonic Atresia	Peptic ulcer, Abdominal situs inversus, Colonic atresia, Abnormal mesentery morphology, Duodenal ...	ORPHA:1198
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Mild short stature, Bilat...	OMIM:620292
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis	ORPHA:922
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Immunodeficiency 31C	Protein-losing enteropathy, Osteopenia, Intussusception, Lymphopenia, Villous atrophy, Autoimmune...	OMIM:614162
Eosinophilic Gastroenteritis	Protein-losing enteropathy, Hematochezia, Ascites, Leukocytosis, Anemia, Abnormality of the gastr...	ORPHA:2070
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,...	OMIM:616860
Congenital Neuronal Ceroid Lipofuscinosis	EEG with burst suppression, Neonatal respiratory distress, Respiratory failure	ORPHA:168486
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Loss of ambulation, Respiratory failure	OMIM:613435
Sulfite Oxidase Deficiency, Isolated	Multifocal epileptiform discharges, Choreoathetosis, Bilateral tonic-clonic seizure, Ataxia	OMIM:272300
Sarcosinemia	Bilateral tonic-clonic seizure, Ataxia	ORPHA:3129
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer	OMIM:126840
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes m...	OMIM:612526
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Respiratory failure, Death in infancy	OMIM:616277
Myotubular Myopathy With Abnormal Genital Development	Death in infancy, Atelectasis, Neonatal death	OMIM:300219
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Seizure, Generalized non-motor (absence) seizure, Dysmetria, Bilateral tonic-clonic seizure, Atax...	OMIM:618170
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Nod...	ORPHA:99931
Spinocerebellar Ataxia Type 12	Hypokinesia, Limb dysmetria, Gait disturbance, Ataxia, Unsteady gait	ORPHA:98762
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Fryns Microphthalmia Syndrome	Anophthalmia, Neural tube defect, Microphthalmia	OMIM:600776
Dpagt1-Cdg	Ataxia, Inability to walk, Akinesia, Lipodystrophy, Hypsarrhythmia, EEG with generalized slow act...	ORPHA:86309
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Th...	OMIM:616050
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Gait imbalance, Bilateral tonic-clonic seizure	OMIM:618120
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Autoimmune he...	OMIM:616100
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Steatorrhea, Jaundice	OMIM:235555
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Fat malabso...	ORPHA:309108
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Respiratory failure, Desquamative interstitial pneu...	OMIM:263000
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Type I diabetes mellitus, Inflammation of the large intestine, Lymphocytic in...	ORPHA:436159
Harderoporphyria	Increased fecal harderoporphyrin, Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal...	OMIM:618892
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Polymicrogyria With Optic Nerve Hypoplasia	Bilateral tonic-clonic seizure, Infantile spasms, Seizure	ORPHA:250972
Auriculocondylar Syndrome 2B	Neonatal respiratory distress, Omphalocele	OMIM:620458
Thoraco-Abdominal Enteric Duplication	Intestinal malrotation, Hepatomegaly, Duodenal stenosis	ORPHA:1759
Hemochromatosis, Type 1	Ascites, Glucose intolerance, Splenomegaly, Cardiomegaly, Cirrhosis, Hepatomegaly, Osteoporosis, ...	OMIM:235200
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor...	ORPHA:2494
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Umbilical hernia, Diastasis recti, Inguinal hernia, Wrist flexion contracture, Flexion contractur...	ORPHA:254528
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, ...	ORPHA:2930
Systemic Primary Carnitine Deficiency	Bilateral tonic-clonic seizure with focal onset	ORPHA:158
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Myoclonic seizure, EEG with focal sharp slow waves, Tonic seizure, Hypsarrhythmia, Bilateral toni...	OMIM:619983
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Developmental And Epileptic Encephalopathy 89	EEG with burst suppression, Death in childhood, Neonatal death, Hypsarrhythmia, Omphalocele, Flex...	OMIM:619124
Xk Aprosencephaly Syndrome	Polyhydramnios, Microphthalmia	ORPHA:3469
Combined Oxidative Phosphorylation Deficiency 2	Hypokinesia, Neonatal death	OMIM:610498
Gracile Bone Dysplasia	Ascites, Ankyloglossia, Decreased skull ossification, Asplenia, Hypoplastic spleen	OMIM:602361
Severe Neurodegenerative Syndrome With Lipodystrophy	Generalized lipodystrophy, Gait ataxia, Reduced subcutaneous adipose tissue, Ataxia, Reduced intr...	ORPHA:363400
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Achilles tendon contracture	OMIM:604801
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia	OMIM:616744
Muscular Dystrophy, Congenital, With Or Without Seizures	Interictal epileptiform activity, Loss of ambulation, Respiratory failure, Ataxia	OMIM:620166
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia, Pyloric stenosis	OMIM:188025
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Behavioral Variant Of Frontotemporal Dementia	EEG with continuous slow activity, Gait disturbance, Bilateral tonic-clonic seizure	ORPHA:275864
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Staphylococcal Necrotizing Pneumonia	Pneumonia, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumothorax, Acut...	ORPHA:36238
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:616589
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Reduced bone mineral density, Cleft palate	OMIM:620210
Hyperekplexia 1	Exaggerated startle response, Inguinal hernia, Hypokinesia, Umbilical hernia	OMIM:149400
Infantile Sialic Acid Storage Disease	Osteopenia, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, High palate	OMIM:269920
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Absent brainstem auditory responses, Respiratory failure, Vestibular areflexia, Head titubation	ORPHA:3240
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Anal fissure, Lymphopenia, Hepatospleno...	OMIM:618935
Congenital Bile Acid Synthesis Defect Type 3	Cholestasis, Hepatosplenomegaly, Cirrhosis, Jaundice, Fat malabsorption, Bile duct proliferation	ORPHA:79302
Mirage Syndrome	Gastroesophageal reflux, Hypoglycemia, Radial club hand, Lymphopenia, Leukopenia, Achalasia, Thro...	OMIM:617053
D-2-Hydroxyglutaric Aciduria 1	Myoclonic seizure, Seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clon...	OMIM:600721
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Generalized-onset seizure, EEG with generalized epileptiform discharges, Seizure, Bilateral tonic...	OMIM:619827
Aminoacylase 1 Deficiency	Bilateral tonic-clonic seizure, Seizure	OMIM:609924
Lissencephaly Syndrome, Norman-Roberts Type	Dysphagia, Hypoplastic spleen	ORPHA:89844
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Focal hyperkinetic seizure, Increased theta frequency activity in EEG, Nocturnal seizures, Bilate...	ORPHA:98784
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Gastric ulcer, Iron deficiency anemia, Esophageal ulceration	OMIM:618372
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Congenital Contractural Arachnodactyly	Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia	ORPHA:115
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Tip-toe gait, Elbow contracture, Difficulty walking, Achilles tendon contracture, Respiratory fai...	OMIM:606612
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Morgagni diaphragmatic hernia, Recurrent pneumonia, Atelect...	OMIM:613177
Schisis Association	Congenital diaphragmatic hernia, Omphalocele	ORPHA:63862
Beta-Thalassemia Intermedia	Osteopenia, Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased ...	ORPHA:231222
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Brown-Vialetto-Van Laere Syndrome 2	Ataxia, Hypokinesia, Respiratory insufficiency	OMIM:614707
Juvenile Neuronal Ceroid Lipofuscinosis	Seizure, Interictal EEG abnormality, Loss of ambulation, Bilateral tonic-clonic seizure, Myocloni...	ORPHA:79264
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Intellectual Developmental Disorder, Autosomal Dominant 74	Intrauterine growth retardation, Typical absence seizure, Bilateral tonic-clonic seizure	OMIM:620688
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Neoplasm of th...	ORPHA:100026
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Choreoathetosis, Episodic ataxia	OMIM:312170
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Kagami-Ogata Syndrome	Diastasis recti, Inguinal hernia, Omphalocele, Flexion contracture, Pulmonary hypoplasia	OMIM:608149
Pancreatic Lipase Deficiency	Steatorrhea, Fat malabsorption	OMIM:614338
Polycythemia Vera	Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo...	OMIM:263300
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Short-Rib Thoracic Dysplasia 12	Atelectasis, Respiratory insufficiency, Inguinal hernia, Neonatal death, Omphalocele, Pulmonary h...	OMIM:269860
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Frontal encephalocele, Microphthalmia	ORPHA:1528
Mmep Syndrome	Microphthalmia	ORPHA:3434
Glycosylphosphatidylinositol Biosynthesis Defect 17	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se...	OMIM:618010
Intellectual Developmental Disorder, Autosomal Dominant 42	Focal hemiclonic seizure, Hypsarrhythmia, EEG with generalized epileptiform discharges, Generaliz...	OMIM:616973
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:615637
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Gait ataxia, Dysmetria, Steppage gait, Ataxia, Flexion contracture, Respiratory failure	OMIM:616505
Intellectual Developmental Disorder, X-Linked 30	Short stature, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:300558
Multiple Mitochondrial Dysfunctions Syndrome 3	Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency	OMIM:615330
Pelizaeus-Merzbacher Disease, Connatal Form	Difficulty walking, Inability to walk, Dystonic gait, Ataxia, Titubation, Respiratory failure	ORPHA:280210
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure	OMIM:616281
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Splenomegaly, Crohn's disease, Colitis, Dec...	OMIM:618394
Waardenburg Syndrome Type 3	Atelectasis, Camptodactyly of finger	ORPHA:896
Pontocerebellar Hypoplasia Type 1	Arthrogryposis multiplex congenita, Respiratory failure, Ataxia	ORPHA:2254
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia	OMIM:616840
Isolated Anencephaly	Congenital diaphragmatic hernia, Omphalocele	ORPHA:563609
Severe Congenital Nemaline Myopathy	Hypokinesia, Increased connective tissue, Flexion contracture, Arthrogryposis multiplex congenita...	ORPHA:171430
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Splenomegaly, Abnormally ossified vertebrae	ORPHA:3035
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized non-motor ...	OMIM:619854
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Prune belly, Omphalocele	OMIM:601389
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure	OMIM:240900
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Alg6-Cdg	Abnormality of the liver, Protein-losing enteropathy, Macroglossia, Jaundice	ORPHA:79320
Ullrich Congenital Muscular Dystrophy	Elbow flexion contracture, Flexion contracture, Respiratory failure, Knee flexion contracture	ORPHA:75840
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Death in infancy	OMIM:619386
Muscular Dystrophy, Duchenne Type	Tip-toe gait, Hamstring contractures, Knee flexion contracture, Loss of ambulation, Achilles tend...	OMIM:310200
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Hepatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Il...	OMIM:304790
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Stillbirth	OMIM:617468
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Gait disturbance, Seizure, Bilateral tonic-clonic seizure	ORPHA:457240
Meckel Syndrome, Type 8	Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia, Pericardial effusion	OMIM:613885
Melnick-Needles Syndrome	Recurrent respiratory infections, Omphalocele, Respiratory insufficiency	ORPHA:2484
Vascular Hyalinosis	Protein-losing enteropathy, Hematochezia	OMIM:277175
Leigh Syndrome, Nuclear	Ataxia, Respiratory failure, Respiratory insufficiency	OMIM:256000
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Hypoglycemia, Increased hepatic glycogen content	OMIM:261750
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Farber Disease	Recurrent upper respiratory tract infections, Atelectasis, Respiratory insufficiency, Nodular pat...	ORPHA:333
Myoclonic Epilepsy Of Lafora 1	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit...	OMIM:254780
Caudal Duplication	Omphalocele	ORPHA:1756
Congenital Tufting Enteropathy	Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal...	ORPHA:92050
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Diastasis recti, Omphalocele, Umbilical hernia	ORPHA:254534
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis	OMIM:179010
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele	OMIM:601357
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Ventilator dependence with inability to wean, Decreased nerve conduction velocity, Respiratory fa...	OMIM:604320
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Increased bone mineral density	ORPHA:37748
Stromme Syndrome	Accessory spleen, Intestinal malrotation, Jejunal atresia, Duodenal atresia, Cleft palate	OMIM:243605
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Death in childhood, Loss of ambulation, Gait disturbance, Ataxia, Respiratory failure	OMIM:615838
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Bilateral tonic-clonic seizure	OMIM:301076
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Scedosporiosis	Pneumonia, Bronchitis, Apical pulmonary opacity, Pulmonary fibrosis, Pleuritis, Respiratory failu...	ORPHA:449280
Mednik Syndrome	Hepatic fibrosis, Microcolon, Volvulus, Cholestasis, Jejunal atresia, Cirrhosis	OMIM:609313
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ducta...	OMIM:613812
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Abnormal pulmonary interstitial mo...	ORPHA:178320
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Ataxia, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:614299
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm...	OMIM:301078
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Mitochondrial Complex I Deficiency, Nuclear Type 10	Broad-based gait, Respiratory failure, Dysmetria, Ataxia	OMIM:618233
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Gastroesophageal reflux, Splenomegaly, Ascites	ORPHA:2414
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Visceral Myopathy 1	Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal...	OMIM:155310
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Death in infancy	OMIM:618240
Immunodeficiency 54	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency	OMIM:609981
Pitt-Hopkins-Like Syndrome 1	Status epilepticus, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, E...	OMIM:610042
Thrombocytopenia, Anemia, And Myelofibrosis	Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis	OMIM:617441
Hereditary Late-Onset Parkinson Disease	Shuffling gait, Akinesia	ORPHA:411602
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Omphalocele, Aplasia/Hypoplasia of the lungs	ORPHA:1834
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Intestinal malrotation, Microcolon, Portal hypertension	OMIM:619431
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Proximal Spinal Muscular Atrophy	Recurrent aspiration pneumonia, Neonatal respiratory distress, Elbow flexion contracture, Difficu...	ORPHA:70
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Colonic diverticula, Gastroesophageal reflux, Increased hepatic echogenicity, Gastric...	OMIM:147060
Childhood Absence Epilepsy	Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, EEG with spike-wave complexes...	ORPHA:64280
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Inflammation of the large intestine, Type I diabetes mellitus, Pancytopenia, ...	OMIM:614700
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Seizure, Interictal EEG abnormality, Infantile spasms, Bilateral tonic-clonic seizure, EEG with g...	ORPHA:544503
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Microphthalmia	ORPHA:324416
Down Syndrome	Narrow palate, Macroglossia, Gastroesophageal reflux, Polycythemia, Type II diabetes mellitus, Pr...	ORPHA:870
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia, Hepatomegaly	OMIM:615085
Lymphatic Malformation 12	Neonatal respiratory distress, Inguinal hernia, Neonatal death, Death in adolescence, Pleural thi...	OMIM:620014
Combined Oxidative Phosphorylation Deficiency 1	Hypokinesia	OMIM:609060
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Chronic Granulomatous Disease	Liver abscess, Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Abnormality of neutrophils,...	ORPHA:379
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Cardiomyopathy, Microphthalmia	OMIM:613155
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Alfadhel Syndrome	Short stature, Seizure, Bilateral tonic-clonic seizure	OMIM:620655
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Difficulty walking, Respiratory failure	OMIM:613954
Cntnap2-Related Developmental And Epileptic Encephalopathy	Ataxia, EEG with generalized epileptiform discharges, Seizure, Focal-onset seizure, EEG with gene...	ORPHA:163681
Fanconi Anemia, Complementation Group B	Aplastic anemia, Tracheoesophageal fistula, Esophageal atresia, Thrombocytopenia, Duodenal atresia	OMIM:300514
Sandestig-Stefanova Syndrome	Camptodactyly, Respiratory failure, EEG abnormality	OMIM:618804
Avian Influenza	Pneumonia, Ground-glass opacification, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Res...	ORPHA:454836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu...	OMIM:620233
Unilateral Polymicrogyria	Abnormal posturing, Seizure, Giant somatosensory evoked potentials, Infantile spasms, Myoclonus, ...	ORPHA:268943
Mitochondrial Complex I Deficiency, Nuclear Type 13	Focal motor seizure, Bilateral tonic-clonic seizure	OMIM:618235
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Lissencephaly 9 With Complex Brainstem Malformation	Myoclonic seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Short stature, Foca...	OMIM:618325
Microcephalic Primordial Dwarfism, Montreal Type	Congenital pyloric atresia, Reduced bone mineral density	ORPHA:2617
Canavan Disease	Multifocal epileptiform discharges, Epileptic spasm, Hypsarrhythmia, Bilateral tonic-clonic seizure	OMIM:271900
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Ataxia, Myoclonic seizure, Inability to walk, Epileptic spasm, Gait ataxia, Tonic seizure, Clonic...	OMIM:619580
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Hemochromatosis, Type 2B	Hepatic fibrosis, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly	OMIM:613313
Early Infantile Epileptic Encephalopathy	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	ORPHA:1934
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypokinesia, EEG abnormality, Joint contracture	ORPHA:35708
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Congenital Myopathy 10B, Mild Variant	Recurrent pneumonia, Elbow contracture, Difficulty walking, Achilles tendon contracture, Respirat...	OMIM:620249
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spastic ataxia, Gait disturbance, Bilateral tonic-clonic seizure	ORPHA:199354
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Seizure, Generalized non-motor (absence) seizure, Inability to walk, Infantile spasms, EEG with f...	ORPHA:457351
Focal Dermal Hypoplasia	Camptodactyly of finger, Umbilical hernia, Abnormal dental enamel morphology, Diastasis recti, In...	ORPHA:2092
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Increased b...	OMIM:611490
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Porphyria Due To Ala Dehydratase Deficiency	Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness...	ORPHA:100924
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Difficulty walking, Respiratory failure, Achilles tendon contracture	OMIM:603689
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory failure, Pulmonary infiltrates	ORPHA:70578
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm...	ORPHA:44890
Vacterl Association With Hydrocephalus	Stillbirth, Respiratory failure, Respiratory insufficiency	OMIM:276950
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Osteopenia, Anemia, Splenomegaly	OMIM:618107
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Esophageal stenosis	OMIM:619817
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-...	ORPHA:1876
Feingold Syndrome 1	Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop...	OMIM:164280
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Esophageal Atresia	Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Intestinal malrotation, E...	ORPHA:1199
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Intestinal malrotation, Abnormality of the spleen, Esophag...	ORPHA:2538
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Omphalocele	ORPHA:95706
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Anophthalmia, Microphthalmia	OMIM:164180
Teebi Hypertelorism Syndrome 1	Omphalocele, Pulmonary hypoplasia	OMIM:145420
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Cra...	OMIM:200995
Bladder Exstrophy	Inguinal hernia, Bladder exstrophy, Omphalocele, Umbilical hernia	ORPHA:93930
Progressive Supranuclear Palsy-Corticobasal Syndrome	Diminished movement	ORPHA:240103
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Cellulitis, Recurrent respiratory infections, Atelectasis	ORPHA:2314
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Anemia, Thromboc...	ORPHA:848
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Trisomy 1Q	Congenital diaphragmatic hernia, Omphalocele, Camptodactyly of finger	ORPHA:261344
Migraine, Familial Hemiplegic, 2	Episodic ataxia, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Focal motor seizure	OMIM:602481
Carpenter Syndrome 1	Camptodactyly, Joint contracture of the hand, Omphalocele, Umbilical hernia	OMIM:201000
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Cofs Syndrome	Microphthalmia	ORPHA:1466
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, A...	OMIM:607625
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoi...	OMIM:603909
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Osteolysis	ORPHA:391
D-Glyceric Aciduria	Seizure, Focal clonic seizure, Myoclonus, Hypsarrhythmia, Bilateral tonic-clonic seizure, Growth ...	OMIM:220120
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of ...	ORPHA:220460
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Combined Oxidative Phosphorylation Deficiency 11	Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure	OMIM:614922
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Growth delay, Abnormal posturing	OMIM:614857
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Esophageal varix	OMIM:616028
Multiple Mitochondrial Dysfunctions Syndrome 1	Neonatal death, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:605711
Fibrochondrogenesis 1	Camptodactyly, Joint contracture of the hand, Omphalocele, Stillbirth	OMIM:228520
Autosomal Recessive Dopa-Responsive Dystonia	Gait ataxia, Hypokinesia, Ataxia	ORPHA:101150
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Chromosome 10Q26 Deletion Syndrome	Broad-based gait, Omphalocele	OMIM:609625
Familial Exudative Vitreoretinopathy	Macular edema, Lymphedema, Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasi...	ORPHA:891
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Myoclonus, Nocturnal seizures, Bilateral tonic-clonic seizure, Ataxia	OMIM:619725
American Trypanosomiasis	Splenomegaly, Aganglionic megacolon, Achalasia, Lymphadenopathy, Hepatomegaly	ORPHA:3386
Ciliary Dyskinesia, Primary, 1	Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis	OMIM:244400
Congenital Toxoplasmosis	Ascites, Microphthalmia	ORPHA:858
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Hematochezia	ORPHA:103910
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele	OMIM:601927
Fibrochondrogenesis	Respiratory insufficiency, Omphalocele, Camptodactyly of finger	ORPHA:2021
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Flexion contracture, Respiratory failure, Death in infancy, Camptodactyly of finger	ORPHA:1194
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Craniosynostosis, High palate, Pyloric stenosis	ORPHA:314575
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Gait disturbance, Respiratory failure	OMIM:250940
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Respiratory insufficiency, Stillbirth, Omphalocele, Pulmonary hypoplasia	OMIM:616300
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Ascites, Abnormal gastric mucosa morphology, Cirrhosis, Hepa...	ORPHA:779
Robinow Syndrome, Autosomal Recessive 2	Camptodactyly, Ventral hernia, Omphalocele	OMIM:618529
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl...	ORPHA:210122
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly, Hypoglycemia	OMIM:306000
Congenital Disorder Of Glycosylation, Type Ih	Protein-losing enteropathy, Cholestasis, Ascites, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:608104
Mody	Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypo...	ORPHA:552
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Polyhydramnios, Microphthalmia	ORPHA:2547
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia	OMIM:222448
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Reduced systolic function, Microphthalmia	OMIM:618805
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Anemia, Glossit...	OMIM:175500
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Intellectual Developmental Disorder, Autosomal Dominant 45	Myoclonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic sei...	OMIM:617600
Whim Syndrome	Cellulitis, Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelect...	ORPHA:51636
Alg1-Cdg	Protein-losing enteropathy, Abnormality of the gastrointestinal tract	ORPHA:79327
Chylomicron Retention Disease	Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes	OMIM:246700
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Osteopenia, Hyperinsulinemia, Ileus, Hepatic steatosis, Splenomegaly, Hepatom...	OMIM:613327
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, High palate	ORPHA:85212
Glycogen Storage Disease Due To Acid Maltase Deficiency	Atelectasis, Respiratory insufficiency, Difficulty walking, Inability to walk, Respiratory tract ...	ORPHA:365
Glycogen Storage Disease Ixc	Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Fasting hypoglycemia, ...	OMIM:613027
Intellectual Developmental Disorder, X-Linked 98	Ataxia, Generalized non-motor (absence) seizure, Postnatal growth retardation, Infantile spasms, ...	OMIM:300912
Hereditary Motor And Sensory Neuropathy, Type Iic	Decreased distal sensory nerve action potential, Respiratory failure, Intercostal muscle weakness	OMIM:606071
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Atelectasis, Respiratory insufficiency, Inability to walk, Hypsarrhythmia, Pulmonary artery atres...	OMIM:620371
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Atelectasis, Respiratory insufficiency, Death in childhood, Recurrent respiratory infections, Pul...	OMIM:618278
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Oligohydramnios, Microphthalmia	OMIM:619053
Mosaic Trisomy 1	Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia, Omphalocele,...	ORPHA:1692
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Triploidy	Omphalocele	ORPHA:3376
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Pancreatic lymphangiectasis, Ascites, Splenomegaly, Thyroid lymphangi...	OMIM:235255
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ...	OMIM:614207
Oculoskeletodental Syndrome	Hepatomegaly, Protein-losing enteropathy, Macroglossia, Splenomegaly	OMIM:618440
Developmental And Epileptic Encephalopathy 8	Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:300607
Dystonia 1, Torsion, Autosomal Dominant	Inability to walk, Abnormal posturing	OMIM:128100
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory failure, Respiratory insufficiency due to muscle weakness	ORPHA:352447
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia, Submucous cleft hard palate	OMIM:619227
Myopathy, Centronuclear, X-Linked	Flexion contracture, Neonatal respiratory distress, Hypokinesia, Respiratory failure requiring as...	OMIM:310400
Metatropic Dysplasia	Flexion contracture, Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insuffi...	OMIM:156530
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen...	OMIM:601859
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Osteopenia, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension,...	OMIM:610199
Juvenile Polyposis Syndrome	Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Anemia, Neoplasm...	OMIM:174900
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Rickets, Extramedullary hematopoiesis, Cholestasis, Hepatic steatosis, Prol...	ORPHA:79303
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Villous atrophy, Reactive hypoglycemia	OMIM:600955
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop...	OMIM:254450
Chromosome 9P Deletion Syndrome	Inguinal hernia, Omphalocele	OMIM:158170
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia, Edema, Congestive heart failure	ORPHA:2505
Coenzyme Q10 Deficiency, Primary, 3	Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus	OMIM:614652
Abetalipoproteinemia	Fat malabsorption, Acanthocytosis	OMIM:200100
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Postnatal growth retardation, Bilateral tonic-clonic seizure	ORPHA:79350
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Flexion contractur...	OMIM:618291
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Ascites, Splen...	ORPHA:2137
Vacterl/Vater Association	Congenital diaphragmatic hernia, Omphalocele, Aplasia/Hypoplasia of the lungs	ORPHA:887
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Bilateral tonic-clonic seizure	OMIM:540000
Huntington Disease	Hypokinesia, Difficulty walking, Inability to walk, Gait imbalance, Gait disturbance	ORPHA:399
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Respiratory failure	OMIM:620296
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dentinogenesis imperfecta, Atelectasis, Respiratory insufficiency, Atrophic scars, Multiple joint...	ORPHA:536467
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Foot acroosteolysis, Gastric hypertrophy, Metacarpal periosteal thickening, Periosteal thickening...	OMIM:161700
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Focal myoclonic seizure, Seizure, Difficulty walking, Inability to walk, Bilateral tonic-clonic s...	ORPHA:481152
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Intes...	OMIM:208540
Pierpont Syndrome	Microphthalmia	ORPHA:487825
17Q12 Microduplication Syndrome	Polyhydramnios, Microphthalmia	ORPHA:261272
Supranuclear Palsy, Progressive, 2	Akinesia, Gait imbalance, Falls	OMIM:609454
Cog8-Cdg	Protein-losing enteropathy, Hypoglycemia	ORPHA:95428
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Inguinal hernia, Abnormality of the abdominal wall, Omphalocele, C...	OMIM:247200
Jaberi-Elahi Syndrome	Broad-based gait, Inability to walk, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Chor...	OMIM:617988
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Osteomalacia, Villous atrophy,...	OMIM:619381
Fryns Syndrome	Gastroesophageal reflux, Intestinal malrotation, Aganglionic megacolon, Ectopic anus, Anal atresi...	ORPHA:2059
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Hemob...	ORPHA:512
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral...	OMIM:301068
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum...	ORPHA:538
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Death in infancy	OMIM:610678
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi...	ORPHA:90362
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Hypoglycemia, Cholestasis, Hepatic steatosis, Splenomegaly, An...	ORPHA:264580
Linear Skin Defects With Multiple Congenital Anomalies 2	Pulmonary arterial hypertension, Microphthalmia	OMIM:300887
Nephronophthisis 2	Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia	OMIM:602088
Systemic Sclerosis	Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref...	ORPHA:90291
Meckel Syndrome, Type 2	Omphalocele	OMIM:603194
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Duodenal atresia	OMIM:603467
Constricting Bands, Congenital	Omphalocele, Bladder exstrophy, Gastroschisis, Abnormal lung lobation	OMIM:217100
Warburg Micro Syndrome 3	Inability to walk, Postnatal growth retardation, Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:614222
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Thoracoabdominal Syndrome	Ventral hernia, Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia	OMIM:313850
Otopalatodigital Syndrome, Type I	Omphalocele	OMIM:311300
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r...	ORPHA:79127
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Typical Nemaline Myopathy	Hypokinesia, Respiratory insufficiency, Gait disturbance, Flexion contracture, Arthrogryposis mul...	ORPHA:171436
Poliomyelitis	Inability to walk, Respiratory failure requiring assisted ventilation, Abnormal motor nerve condu...	ORPHA:2912
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Generalized non-motor (absence) seizure, Epileptic spasm, Intrauterine growth retardation, Bilate...	ORPHA:79351
Intellectual Developmental Disorder, Autosomal Dominant 53	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:617798
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Respiratory failure	ORPHA:2759
Pierpont Syndrome	Microphthalmia	OMIM:602342
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Villous atrophy, Portal hypertension, Hepatic steatosis, Spleno...	ORPHA:567983
Intellectual Developmental Disorder, Autosomal Dominant 56	Inability to walk, Broad-based gait, Hypokinesia, Ataxia	OMIM:617854
Kagami-Ogata Syndrome	Diastasis recti, Inguinal hernia, Omphalocele, Respiratory failure requiring assisted ventilation	ORPHA:254519
Congenital Tracheal Stenosis	Fetal ascites, Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gast...	ORPHA:141127
Aredyld Syndrome	Craniofacial hyperostosis, Type I diabetes mellitus, Type II diabetes mellitus, Splenomegaly, Hep...	ORPHA:1133
Houge-Janssens Syndrome 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:618354
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections, Increased connective tissue, Flexion contracture, Re...	ORPHA:98905
Oculocerebrorenal Syndrome Of Lowe	Atypical scarring of skin, Atelectasis, Umbilical hernia, Abnormal dental enamel morphology, Resp...	ORPHA:534
Lethal Congenital Contracture Syndrome 10	Omphalocele, Pulmonary hypoplasia	OMIM:617022
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Developmental And Epileptic Encephalopathy 95	Seizure, Inability to walk, EEG with burst suppression, Focal-onset seizure, Gait disturbance, Bi...	OMIM:618143
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy	OMIM:618154
Hyperphosphatasia-Intellectual Disability Syndrome	Seizure, EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Gait distur...	ORPHA:247262
Hartsfield Syndrome	Encephalocele, Microphthalmia	ORPHA:2117
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Splenomegal...	ORPHA:1655
Microform Holoprosencephaly	Maternal diabetes, Duodenal atresia, Cleft palate	ORPHA:280200
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis	OMIM:614328
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Steatorrhea, Duodenal ulcer	ORPHA:3217
Pulmonary Alveolar Microlithiasis	Bronchitis, Interlobular septal thickening, Ground-glass opacification, Subpleural interstitial t...	ORPHA:60025
Supranuclear Palsy, Progressive, 1	Akinesia, Gait imbalance, Falls	OMIM:601104
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pyloric stenosis	OMIM:614262
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Ataxia, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 ye...	ORPHA:42
Developmental And Epileptic Encephalopathy 100	Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m...	OMIM:619777
Seckel Syndrome 2	Heart murmur, Microphthalmia	OMIM:606744
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Ileus, Splenomegaly, Aganglionic megacolon, Hepatomegaly	ORPHA:163746
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Continuous spike and waves during slow sleep, Seizure, Generalized non-motor (absence) seizure, I...	OMIM:620224
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Splenomegaly...	ORPHA:91138
Neurodegeneration With Brain Iron Accumulation 1	Akinesia, Gait disturbance, Choreoathetosis, Ataxia	OMIM:234200
Ritscher-Schinzel Syndrome 4	Bilateral tonic-clonic seizure, Ataxia, Short stature, Athetosis, Focal-onset seizure	OMIM:619435
Mungan Syndrome	Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction	OMIM:611376
Alg11-Cdg	EEG with burst suppression, Abnormal adipose tissue morphology, Hypokinesia, Ataxia	ORPHA:280071
Dextrocardia	Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Intestinal malrotatio...	ORPHA:1666
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Seizure, Inability to walk, Epileptic spasm, Generalized tonic seizure, Bilateral tonic-clonic se...	OMIM:617193
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Peptic ulcer, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chr...	ORPHA:98849
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal respiratory distress, Pulmonary artery dilatation, Abnormal lung lobation, Alveolar capi...	OMIM:265380
Fatty Acid Hydroxylase-Associated Neurodegeneration	Falls, Loss of ambulation, Progressive gait ataxia, Bilateral tonic-clonic seizure, Focal-onset s...	ORPHA:329308
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prolonged neonatal ja...	OMIM:214950
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele	ORPHA:371428
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu...	OMIM:615398
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Bilateral tonic-clonic seizure	OMIM:616351
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Ataxia	ORPHA:1861
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Pyloric stenosis	OMIM:133705
Epidermolysis Bullosa, Junctional 1B, Severe	Pyloric stenosis	OMIM:226700
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se...	OMIM:619835
Molybdenum Cofactor Deficiency, Type C	Generalized-onset seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Neonata...	OMIM:615501
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Generalized myoclonic seizure, Seizure, Infantile spasms, Generalized tonic seizure, Bilateral to...	ORPHA:480864
Aromatic L-Amino Acid Decarboxylase Deficiency	Cardiorespiratory arrest, Exaggerated startle response, Athetosis, Choreoathetosis, Diminished mo...	OMIM:608643
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele	ORPHA:3329
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Glycine Encephalopathy With Normal Serum Glycine	Elbow flexion contracture, Hip contracture, Exaggerated startle response, Flexion contracture, Ar...	OMIM:617301
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lymphadenopathy, Le...	ORPHA:809
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia	ORPHA:1335
Zygomycosis	Cellulitis, Atelectasis, Fasciitis, Pleural effusion, Parenchymal consolidation, Pulmonary infilt...	ORPHA:73263
Stormorken Syndrome	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hypertension...	ORPHA:824
Monosomy 18P	Microphthalmia, Hypertension, Lymphedema	ORPHA:1598
X-Linked Intellectual Disability Due To Gria3 Mutations	Seizure, Myoclonus, Bilateral tonic-clonic seizure, Short stature, Status epilepticus	ORPHA:364028
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Omphalocele, Umbilical hernia	ORPHA:2241
Combined Oxidative Phosphorylation Deficiency 27	Multifocal epileptiform discharges, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:616672
Mosaic Variegated Aneuploidy Syndrome	Osteolysis, Ascites, Stomach cancer, Intestinal polyposis, Acute lymphoblastic leukemia, Duodenal...	ORPHA:1052
Matthew-Wood Syndrome	Abnormal spleen morphology, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis	ORPHA:2470
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure	ORPHA:3226
Pelger-Huet Anomaly	Bilateral tonic-clonic seizure, Mild short stature, Seizure	OMIM:169400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hemateme...	OMIM:263200
Hypermanganesemia With Dystonia 2	Tip-toe gait, Hypokinesia, Inability to walk, Scissor gait, Gait disturbance, Achilles tendon con...	OMIM:617013
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Sandhoff Disease, Infantile Form	Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Seizure	ORPHA:309155
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Developmental And Epileptic Encephalopathy 49	Myoclonic seizure, Myoclonus, Tonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Clo...	OMIM:617281
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Focal myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Athetosis, Focal impaired aware...	ORPHA:369929
Developmental Delay With Or Without Dysmorphic Facies And Autism	Inguinal hernia, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia	OMIM:618454
Primary Sclerosing Cholangitis	Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Hepatomegaly, Jaun...	ORPHA:171
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali...	OMIM:265300
Riddle Syndrome	Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Gait disturba...	ORPHA:420741
Beta-Thalassemia Major	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231214
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Neonatal respiratory distress, Falls, Ataxia, Abnormal pulmonary interstitia...	ORPHA:209905
Neuromuscular Oculoauditory Syndrome	Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Infantile ...	OMIM:618733
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
C Syndrome	Omphalocele	OMIM:211750
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233710
Pearson Syndrome	Bone marrow hypocellularity, Glycosuria, Exocrine pancreatic insufficiency, Pancytopenia, Abnorma...	ORPHA:699
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
German Syndrome	Arthrogryposis multiplex congenita, Hypokinesia, Camptodactyly of finger	ORPHA:2077
Lissencephaly Due To Tuba1A Mutation	Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure	ORPHA:171680
Postsynaptic Congenital Myasthenic Syndromes	Respiratory failure	ORPHA:98913
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Gaucher Disease Type 1	Splenic infarction, Osteopenia, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypers...	ORPHA:77259
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hematochezia, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Paralytic ileus...	OMIM:620565
Congenital Insensitivity To Pain With Severe Intellectual Disability	Multifocal epileptiform discharges, Bilateral tonic-clonic seizure	ORPHA:453510
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Death in infancy, Death in adolescence, Respiratory insufficiency due ...	OMIM:615512
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ...	OMIM:615234
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Death in childhood, Ataxia, Truncal ataxia, Respiratory failure, Respiratory insufficiency due to...	OMIM:220110
Isolated Biliary Atresia	Periportal fibrosis, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged neonatal jaundice,...	ORPHA:30391
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins...	OMIM:615067
Hydrolethalus	Polyhydramnios, Anencephaly, Anophthalmia, Microphthalmia	ORPHA:2189
Glycogen Storage Disease Ib	Inflammation of the large intestine, Hypoglycemia, Splenomegaly, Pancreatitis, Neutropenia, Pancr...	OMIM:232220
Marshall-Smith Syndrome	Recurrent upper respiratory tract infections, Aspiration pneumonia, Umbilical hernia, Death in ch...	OMIM:602535
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni...	ORPHA:457077
Infantile Dystonia-Parkinsonism	Hypokinesia	ORPHA:238455
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Lymphopenia, Abdominal adhesions, Neutropenia, Pyloric stenosis	OMIM:616395
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis	OMIM:617100
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Corneal neovascularization, Hypoplasia of the fovea, Macular ...	ORPHA:2334
Primary Biliary Cholangitis	Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Splenomegaly, Hepat...	ORPHA:186
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Esophagitis, Intestinal obstruction, Zol...	ORPHA:913
Pagod Syndrome	Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Abnormality of the pulmonary artery...	ORPHA:991
Symptomatic Form Of Hfe-Related Hemochromatosis	Hyperglycemia, Portal hypertension, Splenomegaly, Cardiomegaly, Cirrhosis, Cholangiocarcinoma, He...	ORPHA:465508
Fryns Syndrome	Meckel diverticulum, Polysplenia, Intestinal malrotation, Aganglionic megacolon, Esophageal atres...	OMIM:229850
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Respiratory failure, Exaggerated startle response	OMIM:620327
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Gait disturbance, Bilatera...	ORPHA:395
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206436
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Short stature, Undetectable visual evoked potentials, Intrauterine growth retardation, Bilateral ...	ORPHA:423479
Periventricular Nodular Heterotopia	Gastroesophageal reflux, Pyloric stenosis	ORPHA:98892
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Distal Deletion 12Q	High, narrow palate, Microglossia, Annular pancreas, Maturity-onset diabetes of the young, Congen...	ORPHA:96149
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Hypokinesia, Death in childhood	OMIM:613320
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Respiratory failure, Choreoathetosis	ORPHA:445038
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Opitz Gbbb Syndrome	Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Omphalocele, Recurrent aspira...	ORPHA:2745
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233690
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Pulmonic stenosis, Umbilical hernia	OMIM:618914
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage...	ORPHA:79076
Frontonasal Dysplasia 1	Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia	OMIM:136760
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Short stature, Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:620070
Ciliary Dyskinesia, Primary, 53	Cardiomegaly, Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Bilateral Polymicrogyria	Seizure, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic...	ORPHA:268940
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti...	OMIM:266200
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Melnick-Needles Syndrome	Recurrent respiratory infections, Gait disturbance, Omphalocele, Stillbirth	OMIM:309350
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Recurrent hypoglycemia, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Anemia, ...	ORPHA:79240
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Joint contracture of the hand, Chylothorax, Death in childhood, Death in infancy, Joint contractu...	OMIM:620278
Meconium Ileus	Microcolon, Meconium ileus	OMIM:614665
Holoprosencephaly	Respiratory insufficiency, Congenital diaphragmatic hernia, Omphalocele, Aplasia/Hypoplasia of th...	ORPHA:2162
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral tonic-clonic seizure	OMIM:619356
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Respiratory failure, Death in childhood, Ataxia	OMIM:617186
Adenocarcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal ade...	ORPHA:424016
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No...	OMIM:613470
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal respiratory distress, Respiratory insufficiency, Elbow flexion contracture, Knee flexion...	OMIM:608836
Bone Marrow Failure Syndrome 5	Short stature, Growth delay, Bilateral tonic-clonic seizure	OMIM:618165
Japanese Encephalitis	Decreased motor nerve conduction velocity, EEG with burst suppression, Myoclonus, EEG abnormality...	ORPHA:79139
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Recurrent pneumonia, Ataxia, Arthrogryposis multiplex congenita, Respiratory failure, Respiratory...	ORPHA:496641
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Cerebrooculofacioskeletal Syndrome 1	Dehydration, Microphthalmia	OMIM:214150
African Trypanosomiasis	Difficulty walking, Akinesia, Gait disturbance, Choreoathetosis, Miscarriage	ORPHA:3385
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Bickerstaff Brainstem Encephalitis	Pneumonia, Decreased motor nerve conduction velocity, Respiratory tract infection, EEG abnormalit...	ORPHA:79138
Developmental And Epileptic Encephalopathy 111	Convulsive status epilepticus, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizu...	OMIM:620504
Lowry-Maclean Syndrome	High, narrow palate, Osteopenia, Abnormality of the abdominal organs, Midgut malrotation, Osteopo...	ORPHA:2409
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:618381
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Bilateral tonic-clonic seizure	OMIM:616083
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Oligohydramnios, Encephalocele, Microphthalmia	ORPHA:228390
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Type I diabetes mellitus, Hepatitis, Lymphopenia, Hepatosplenomegaly, Villous atrophy...	ORPHA:391487
Trisomy 18	Hernia, Congenital diaphragmatic hernia, Omphalocele, Camptodactyly of finger	ORPHA:3380
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Hyperekplexia 3	Myoclonus, Bilateral tonic-clonic seizure	OMIM:614618
Otopalatodigital Syndrome Type 2	Pulmonary hypoplasia, Omphalocele, Camptodactyly of finger	ORPHA:90652
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Snakebite Envenomation	Respiratory failure	ORPHA:449285
Granulomatous Disease, Chronic, X-Linked	Cellulitis, Recurrent pneumonia, Atelectasis, Pleural effusion, Air bronchogram	OMIM:306400
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Pyloric stenosis	OMIM:617219
Lujo Hemorrhagic Fever	Atelectasis	ORPHA:319213
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Pleural effusion, Respiratory failure	ORPHA:542323
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Myoclonic seizure, Focal impaired awareness seizure, Generalized-onset seizure, Epileptic spasm, ...	OMIM:620024
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Arrhythm...	OMIM:153400
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Sandifer Syndrome	Hiatus hernia, Abnormal posturing	ORPHA:71272
Robinow Syndrome, Autosomal Dominant 3	Camptodactyly, Pulmonary artery atresia, Omphalocele	OMIM:616894
Heterotaxy, Visceral, 1, X-Linked	Polysplenia, Abdominal situs inversus, Posteriorly placed anus, Biliary atresia, Cardiomegaly, He...	OMIM:306955
Pseudotrisomy 13 Syndrome	Omphalocele	OMIM:264480
Subaortic Stenosis-Short Stature Syndrome	Arrhythmia, Microphthalmia	ORPHA:3191
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Multiple Acyl-Coa Dehydrogenase Deficiency	Inability to walk, Cardiorespiratory arrest, Respiratory failure	ORPHA:26791
Arterial Tortuosity Syndrome	Cardiorespiratory arrest, Inguinal hernia, Hiatus hernia, Pulmonary artery stenosis, Femoral hern...	ORPHA:3342
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Microphthalmia	OMIM:618652
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Adams-Oliver Syndrome 2	Oligohydramnios, Microphthalmia	OMIM:614219
Combined Oxidative Phosphorylation Deficiency 58	Epilepsia partialis continua, Difficulty walking, Myoclonus, Gait ataxia, Bilateral tonic-clonic ...	OMIM:620451
Alg9-Cdg	Abnormal lung lobation, Lipodystrophy, Omphalocele, Pulmonary hypoplasia	ORPHA:79328
Feingold Syndrome Type 1	Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia	ORPHA:391641
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Trisomy 13	Aplasia/Hypoplasia of the iris, Hydrops fetalis, Anophthalmia, Microphthalmia	ORPHA:3378
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Congenital Fibrinogen Deficiency	Tachycardia, Internal hemorrhage, Microphthalmia	ORPHA:335
Mosaic Variegated Aneuploidy Syndrome 2	Craniosynostosis, Duodenal atresia	OMIM:614114
Craniorachischisis	Congenital diaphragmatic hernia, Omphalocele	ORPHA:63260
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Heterotaxy, Visceral, 5, Autosomal	Abdominal situs inversus, Intestinal malrotation, Abdominal situs ambiguus, Asplenia, Duodenal at...	OMIM:270100
Leigh Syndrome	Multiple joint contractures, Hypsarrhythmia, Ataxia, Athetosis, Respiratory failure, Choreoathetosis	ORPHA:506
Mitochondrial Trifunctional Protein Deficiency 2	Bilateral tonic-clonic seizure, Seizure, Neonatal death	OMIM:620300
Cat Eye Syndrome	Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Biliary atresia, Rectal fis...	OMIM:115470
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory insufficiency, Respiratory tract infection, Respiratory insufficiency due to muscle w...	ORPHA:308552
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Cholestasis, ...	OMIM:615895
Pachydermoperiostosis	Peptic ulcer, Gastrointestinal hemorrhage, Abnormal cortical bone morphology, Splenomegaly, Anemi...	ORPHA:2796
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Protein-losing enteropathy, Coronal craniosynostosis, Pericardial lymphangiectasia, Intestinal ly...	OMIM:235510
3P25.3 Microdeletion Syndrome	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	ORPHA:435638
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal lung lobation, Omphalocele, Umbilical hernia	ORPHA:2166
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Oligohydramnios, Increased nuchal translucency, Microphthalmia	OMIM:618494
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Mosaic Variegated Aneuploidy Syndrome 1	Leukemia, Duodenal atresia, Cleft palate	OMIM:257300
Glass Syndrome	Broad-based gait, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater...	OMIM:612313
Juvenile Polyposis Syndrome	Rectocele, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hematochezia, Colon cancer, S...	ORPHA:2929
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Immunodeficiency, Common Variable, 10	Pyloric stenosis, Hypoglycemia, Frequent Giardia lamblia infestation	OMIM:615577
Microvillus Inclusion Disease	Villous atrophy, Abnormal small intestinal villus morphology	ORPHA:2290
Intellectual Developmental Disorder, Autosomal Dominant 54	Ataxia, Seizure, Inability to walk, Bilateral tonic-clonic seizure, Atonic seizure, Short stature...	OMIM:617799
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Occipital encephalocele, Cardiomyopathy, Microphthalmia	ORPHA:370959
Apc-Related Attenuated Familial Adenomatous Polyposis	Gastrointestinal carcinoma, Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric polyps,...	ORPHA:247806
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Congenital pyloric atresia, Esophageal atresia	OMIM:226730
Jacobsen Syndrome	Bone marrow hypocellularity, Annular pancreas, Intestinal malrotation, Ectopic anus, Abnormality ...	ORPHA:2308
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Interphalangeal joint contracture of finger, Diastasis recti, Hernia of the abdominal wall, Pulmo...	ORPHA:96334
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory failure, Neonatal death	OMIM:616482
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele	ORPHA:2736
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure, Death in infancy	OMIM:614862
Common Variable Immunodeficiency	Lymphopenia, Abnormality of the liver, Splenomegaly, Gastrointestinal stroma tumor, Lymphadenopat...	ORPHA:1572
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Type I diabetes mellitus, Hepatitis, Ileus, Autoimmune hemolytic anemia, Recurrent gastroenteriti...	ORPHA:37042
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B...	OMIM:257220
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Short stature, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:615802
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Vitreoretinochoroidopathy	Vitreous hemorrhage, Retinal neovascularization, Microphthalmia	OMIM:193220
Plasminogen Deficiency, Type I	Duodenal ulcer	OMIM:217090
Simpson-Golabi-Behmel Syndrome	Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Congenital diaphragmatic hernia, Deat...	ORPHA:373
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Ascites, Portal hypertension, Encephalocele, Pulmonary arterial hype...	ORPHA:974
22Q11.2 Deletion Syndrome	Atelectasis, Abnormal lung lobation, Abnormal dental enamel morphology, Umbilical hernia, Inguina...	ORPHA:567
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Mitochondrial Trifunctional Protein Deficiency	Tip-toe gait, Respiratory failure, Respiratory insufficiency	ORPHA:746
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret...	OMIM:194380
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia	OMIM:601794
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory failure, Respiratory insufficiency	OMIM:613845
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hypoglycemia, Ascites, Hypophosphatemic rickets, Splenomegaly, Pancr...	OMIM:276700
Cloacal Exstrophy	Cloacal exstrophy, Omphalocele, Bladder exstrophy	ORPHA:93929
Bartsocas-Papas Syndrome 1	Inguinal hernia, Omphalocele, Inferiorly positioned umbilicus, Flexion contracture, Arthrogryposi...	OMIM:263650
Mercury Poisoning	Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Nivelon-Nivelon-Mabille Syndrome	Severe short stature, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:600092
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Polycythemia Vera	Gastrointestinal hemorrhage, Acute leukemia, Polycythemia, Leukocytosis, Portal hypertension, Spl...	ORPHA:729
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Cardiac Diverticulum	Pulmonary artery hypoplasia, Abdominal wall defect, Umbilical hernia, Diastasis recti, Pulmonary ...	ORPHA:1686
Osteopathia Striata With Cranial Sclerosis	Camptodactyly, Joint contracture of the hand, Omphalocele, Flexion contracture of toe	OMIM:300373
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Joubert Syndrome 14	Encephalocele, Meningocele, Microphthalmia, Intracranial hemorrhage, Hypertension	OMIM:614424
Dyskeratosis Congenita	Bone marrow hypocellularity, Abnormality of neutrophils, Oral leukoplakia, Coarse metaphyseal tra...	ORPHA:1775
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, EEG with bu...	OMIM:614231
Melas	Seizure, Myoclonus, Gait disturbance, EEG abnormality, Bilateral tonic-clonic seizure, Ataxia, Sh...	ORPHA:550
Combined Oxidative Phosphorylation Deficiency 3	Respiratory insufficiency, Death in childhood, Death in infancy, Ataxia, Respiratory failure	OMIM:610505
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Manitoba Oculotrichoanal Syndrome	Omphalocele	OMIM:248450
Temtamy Syndrome	Aortic regurgitation, Microphthalmia	OMIM:218340
1Q44 Microdeletion Syndrome	Short stature, Growth delay, Bilateral tonic-clonic seizure	ORPHA:238769
3Mc Syndrome 1	Abnormality of the abdominal wall, Diastasis recti, Omphalocele	OMIM:257920
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure	ORPHA:444013
Gray Platelet Syndrome	Myelofibrosis, Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia	OMIM:139090
Biotinidase Deficiency	Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Ataxia, Focal motor seizure, Generaliz...	ORPHA:79241
Codas Syndrome	Enamel hypoplasia, Omphalocele	OMIM:600373
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Peritonitis, Microcolon, Ileal atresia	OMIM:619351
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Hypoglycemia, Polysplenia, Exocrine pancreatic insuf...	OMIM:619418
Osteopetrosis, Autosomal Recessive 5	Undetectable visual evoked potentials, Respiratory failure, Stillbirth	OMIM:259720
Myoectodermal Gonadal Dysgenesis Syndrome	Diastasis recti, Omphalocele	OMIM:618419
Hermansky-Pudlak Syndrome 10	EEG abnormality, Focal myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:617050
Omphalocele Syndrome, Shprintzen-Goldberg Type	Neonatal respiratory distress, Omphalocele	ORPHA:3164
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:301091
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Splenomegaly, Neutrophilia, Hepatomegaly, Osteolysis	OMIM:612852
Chromosome Xp11.3 Deletion Syndrome	Short stature, Bilateral tonic-clonic seizure	OMIM:300578
Gardner Syndrome	Gastrointestinal carcinoma, Adenomatous colonic polyposis, Ampulla of Vater carcinoma, Duodenal p...	ORPHA:79665
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Pancytope...	OMIM:615688
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Rectal prolapse, Peritonitis, P...	ORPHA:90038
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Vici Syndrome	Postnatal growth retardation, Abnormal posturing, Seizure	OMIM:242840
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Heart Defects, Congenital, And Other Congenital Anomalies	Colon perforation, Microcolon, Glycosuria, Pancreatic hypoplasia, Intestinal malrotation, Hypergl...	OMIM:600001
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Meckel Syndrome, Type 4	Meningocele, Anencephaly, Encephalocele, Microphthalmia	OMIM:611134
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Molybdenum Cofactor Deficiency, Type B	Seizure, Neonatal death, Bilateral tonic-clonic seizure, Myoclonic spasms, Growth delay	OMIM:252160
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory failure	ORPHA:2707
Serkal Syndrome	Malrotation of small bowel	ORPHA:139466
Meckel Syndrome 14	Occipital encephalocele, Tricuspid regurgitation, Oligohydramnios, Increased nuchal translucency,...	OMIM:619879
Pericardial And Diaphragmatic Defect	Intestinal malrotation, Meckel diverticulum, Abnormal gastrointestinal tract morphology	ORPHA:2847
Mitochondrial Complex I Deficiency, Nuclear Type 1	Undetectable visual evoked potentials, Respiratory insufficiency, Death in infancy, Ataxia, Respi...	OMIM:252010
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Myoclonic seizure, Athetosis, Bilateral tonic-clonic seizure	OMIM:615474
Shprintzen Omphalocele Syndrome	Neonatal respiratory distress, Omphalocele	OMIM:182210
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Hypokinesia, Gait ataxia, Loss of ambulation, Gait disturbance	OMIM:600116
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Bilateral tonic-clonic seizure	OMIM:619278
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Microphthalmia	OMIM:169550
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Microphthalmia, Ven...	OMIM:300952
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon	OMIM:619362
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro...	OMIM:603554
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Seizure, Difficulty walking, Gait imbalance, Gait disturbance, Bilateral tonic-clonic seizure wit...	ORPHA:488627
Sandhoff Disease	Myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia	OMIM:268800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Pierson Syndrome	Hypoplasia of the iris, Oligohydramnios, Rieger anomaly, Hypoplasia of the ciliary body, Macular ...	OMIM:609049
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia	ORPHA:85284
Syndromic Diarrhea	Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Villous atrophy, Splenomegaly, Hypoplasi...	ORPHA:84064
Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Stomach cancer, Duodenal adenocarcinoma...	ORPHA:733
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Chand Syndrome	Atelectasis, Ataxia	ORPHA:1401
Chromosome 22Q13 Duplication Syndrome	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:615538
Porphyria, Congenital Erythropoietic	Osteopenia, Cholelithiasis, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Splenom...	OMIM:263700
Refsum Disease	Microphthalmia, Cardiomyopathy, Heart block	ORPHA:773
Combined Immunodeficiency-Enteropathy Spectrum	Congenital pulmonary airway malformation, Omphalocele	ORPHA:436252
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Microphthalmia	OMIM:243310
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Iniencephaly	Gastroschisis, Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia, Omphalocele	ORPHA:63259
Exudative Vitreoretinopathy 2, X-Linked	Retinal neovascularization, Microphthalmia	OMIM:305390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Familial Adenomatous Polyposis 1	Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric polyps, Hepatoblastoma, Adenomatous...	OMIM:175100
Fg Syndrome Type 1	Abnormal large intestine morphology, Gastroesophageal reflux, Anal atresia, Craniosynostosis, Hig...	ORPHA:93932
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
De Sanctis-Cacchione Syndrome	Severe short stature, Scissor gait, Bilateral tonic-clonic seizure, Ataxia, Choreoathetosis	OMIM:278800
Spondyloocular Syndrome	Osteopenia, Duodenal ulcer, Thin bony cortex	OMIM:605822
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Gastroesophageal reflux, Annular pancreas, Furrowed tongue, High palate, Duodenal atresia	OMIM:616975
Heart And Brain Malformation Syndrome	Polyhydramnios, Microphthalmia	OMIM:616920
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Recurrent respiratory infections, Aspiration pneumonia, Elbow flexion ...	ORPHA:2020
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomeg...	OMIM:613471
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Rajab Interstitial Lung Disease With Brain Calcifications 1	Respiratory insufficiency, Emphysema, Inguinal hernia, Abnormal pulmonary interstitial morphology...	OMIM:613658
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Ablepharon Macrostomia Syndrome	Umbilical hernia, Omphalocele, Camptodactyly of finger	ORPHA:920
Otopalatodigital Syndrome, Type Ii	Elbow contracture, Respiratory insufficiency, Umbilical hernia, Omphalocele, Stillbirth, Respirat...	OMIM:304120
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Menke-Hennekam Syndrome 2	Duodenal ulcer	OMIM:618333
Dyrk1A-Related Intellectual Disability Syndrome	Gastroesophageal reflux, Duodenal atresia, Pyloric stenosis	ORPHA:464306
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Polycythemia, Micronodular cirrhosis, Abnormality of the liver, Portal hypertension, Splenomegaly...	ORPHA:309854
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Niemann-Pick Disease Type C	Respiratory insufficiency, Aspiration pneumonia, Pulmonary infiltrates, Progressive gait ataxia, ...	ORPHA:646
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia	OMIM:615249
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Umbilical hernia	ORPHA:369891
Digeorge Syndrome	Recurrent pneumonia, Atelectasis, Umbilical hernia, Inguinal hernia, Recurrent sinusitis, Femoral...	OMIM:188400
Amyotrophic Lateral Sclerosis	Respiratory failure	ORPHA:803
Parkinson Disease 1, Autosomal Dominant	Loss of ambulation, Shuffling gait, Gait disturbance, Hypokinesia	OMIM:168601
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elbow flexion contracture, Knee flexion contracture, Hip contracture, Death in infancy, Hypsarrhy...	OMIM:300868
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Congenital Tricuspid Valve Dysplasia	Respiratory failure, Anomalous pulmonary venous return, Respiratory failure requiring assisted ve...	ORPHA:555874
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Generalized-onset seizure, Inability to walk, Bilateral tonic-clonic seizure, Atonic seizure, Tru...	OMIM:620066
Radio-Renal Syndrome	Chylothorax, Pleural effusion, Respiratory failure	ORPHA:3015
Peripartum Cardiomyopathy	Respiratory failure	ORPHA:563
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to walk, Increa...	ORPHA:459070
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Galloway-Mowat Syndrome 3	Oligohydramnios, Hypertension, Edema, Microphthalmia	OMIM:617729
Meckel Syndrome, Type 1	Pulmonary hypoplasia, Omphalocele, Camptodactyly of finger	OMIM:249000
Abetalipoproteinemia	Broad-based gait, Gait ataxia, Dysmetria, Steppage gait, Ataxia, Respiratory failure	ORPHA:14
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Heart murmur, Microphthalmia	ORPHA:2728
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	EEG with generalized sharp slow waves, Generalized non-motor (absence) seizure, EEG with spike-wa...	ORPHA:369837
Moebius Syndrome	Microphthalmia	OMIM:157900
Bloom Syndrome	Pneumonia, Bronchitis, Respiratory tract infection, Adipose tissue loss, Respiratory failure	ORPHA:125
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Bilateral tonic-clonic seizure, Postnatal growth retardation, Growth delay, Seizure	OMIM:301040
Holoprosencephaly 13, X-Linked	Gastroesophageal reflux, Median cleft palate, Submucous cleft hard palate, Duodenal atresia, Clef...	OMIM:301043
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Charge Syndrome	Respiratory insufficiency, Omphalocele, Umbilical hernia	ORPHA:138
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Craniosynostosis, Duodenal atresia	ORPHA:468631
Alternating Hemiplegia Of Childhood	Seizure, Bilateral tonic-clonic seizure, Ataxia, Focal motor seizure, Status epilepticus, Choreoa...	ORPHA:2131
C Syndrome	Death in infancy, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic ...	ORPHA:1308
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Bilateral tonic-clonic seizure	OMIM:201475
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Focal Dermal Hypoplasia	Umbilical hernia, Diastasis recti, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus herni...	OMIM:305600
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Gastroesophageal reflux, Duodenal atresia	ORPHA:464311
Mitochondrial Dna-Associated Leigh Syndrome	Seizure, Infantile spasms, Gait ataxia, Bilateral tonic-clonic seizure, Ataxia, Generalized myocl...	ORPHA:255210
Nocardiosis	Cellulitis, Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis, Respiratory failure	ORPHA:31204
Multiple Myeloma	Osteopenia, Functional abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy, ...	ORPHA:29073
Malignant Atrophic Papulosis	Pleural effusion, Respiratory failure	ORPHA:679
Mosaic Trisomy 9	Oligohydramnios, Spina bifida, Microphthalmia, Polyhydramnios, Hydrops fetalis	ORPHA:99776
Exstrophy-Epispadias Complex	Abdominal wall defect, Cystocele, Inguinal hernia, Cloacal exstrophy, Abnormality of the abdomina...	ORPHA:322
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Geleophysic Dysplasia 3	Pneumonia, Respiratory failure	OMIM:617809
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Intestinal bleeding, Duodenal polyposis, Hepatoblastoma, Iron deficiency anemia, Adenomatous colo...	ORPHA:261584
Multiple Endocrine Neoplasia Type 1	Thymoma, Peptic ulcer, Gastroesophageal reflux, Osteolysis, Insulinoma, Zollinger-Ellison syndrom...	ORPHA:652
Tetraamelia-Multiple Malformations Syndrome	Polyhydramnios, Septo-optic dysplasia, Microphthalmia	ORPHA:3301
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microphthalmia	ORPHA:139471
Martsolf Syndrome 1	Microphthalmia, Cardiac arrest, Cardiomyopathy, Congestive heart failure	OMIM:212720
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Persistent Hyperplastic Primary Vitreous	Hemorrhage of the eye, Phthisis bulbi, Macular hypoplasia, Microphthalmia, Buphthalmos	ORPHA:91495
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Fraser Syndrome	Abnormal lung lobation, Umbilical hernia, Death in infancy, Omphalocele, Pulmonary hypoplasia	ORPHA:2052
Rodrigues Blindness	Microphthalmia	OMIM:268320
Amish Lethal Microcephaly	Bilateral tonic-clonic seizure	ORPHA:99742
W Syndrome	Bilateral tonic-clonic seizure	ORPHA:2804
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent upper respiratory tract infections, Umbilical hernia, Inguinal hernia, Death in childho...	OMIM:308205
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Beckwith-Wiedemann Syndrome	Umbilical hernia, Diastasis recti, Inguinal hernia, Congenital diaphragmatic hernia, Omphalocele	ORPHA:116
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Abnormality of endocrine pancreas physiology, Abnormality of exocrine pancreas physiology, Hepati...	ORPHA:93111
Chondrodysplasia Punctata 2, X-Linked Dominant	Polyhydramnios, Edema, Microphthalmia	OMIM:302960
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Respiratory failure	ORPHA:158687
Hennekam Syndrome	Ascites, Lymphopenia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Craniosynostosis...	ORPHA:2136
Hydrolethalus Syndrome 1	Stillbirth, Omphalocele, Abnormal lung lobation	OMIM:236680
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Hyphema, Microphthalmia	OMIM:221900
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Seizure, Intrauterine growth retardation, Infantile spasms, Hypsarrhythmia, EEG abnormality, Bila...	OMIM:301044
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Webb-Dattani Syndrome	Short stature, Bilateral tonic-clonic seizure	OMIM:615926
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ataxia, Broad-based gait, Typical absence seizure, Seizure, Febrile seizure (within the age range...	ORPHA:268261
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Autosomal Dominant Progressive External Ophthalmoplegia	Hypokinesia, Respiratory insufficiency, Gait ataxia, Gait disturbance, Ataxia	ORPHA:254892
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele	OMIM:618820
Incontinentia Pigmenti	Congestive heart failure, Umbilical hernia, Cerebral ischemia, Telangiectasia of the skin, Pulmon...	ORPHA:464
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Camptodactyly of finger, Abnormal dental enamel morphology, Inguinal hernia, Omphalocele, Recurre...	ORPHA:2273
Frontonasal Dysplasia 2	Oligohydramnios, Encephalocele, Microphthalmia	OMIM:613451
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic spleen	OMIM:601186
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Microphthalmia	ORPHA:77298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Listeriosis	Pneumonia, Miscarriage, Respiratory failure, Ataxia	ORPHA:533
3-Methylglutaconic Aciduria, Type Viii	Respiratory arrest, Respiratory failure, Death in infancy, Neonatal death	OMIM:617248
Anterior Cutaneous Nerve Entrapment Syndrome	Inguinal hernia, Allodynia	ORPHA:51890
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microphthalmia	OMIM:609053
Papillorenal Syndrome	Hypertension, Edema, Microphthalmia	OMIM:120330
Holoprosencephaly 7	Omphalocele	OMIM:610828
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele	ORPHA:3186
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Umbilical hernia	ORPHA:1519
Combined Oxidative Phosphorylation Deficiency 15	Seizure, Ataxia, Short stature, Unsteady gait, Bilateral tonic-clonic seizure with focal onset	OMIM:614947
X Small Rings	Bilateral tonic-clonic seizure, Growth delay, Seizure	ORPHA:96201
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Microphthalmia	OMIM:616449
Vacterl With Hydrocephalus	Polyhydramnios, Spina bifida, Anophthalmia, Microphthalmia	ORPHA:3412
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Isolated Permanent Neonatal Diabetes Mellitus	Intrauterine growth retardation, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, A...	ORPHA:99885
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Encephalocele, Pulmonic stenosis, Microphthalmia	OMIM:619148
Relapsing Polychondritis	Atelectasis	ORPHA:728
Kinsship Syndrome	Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizure, Short stature...	OMIM:619297
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years)	ORPHA:3044
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Encephalocele, Pulmonic stenosis, Microphthalmia	OMIM:253800
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Oeis Complex	Cloacal exstrophy, Omphalocele, Bladder exstrophy	OMIM:258040
Weaver Syndrome	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure	OMIM:277590
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Obesity, Emotional lability, Abdominal obesity	OMIM:219090
Joubert Syndrome 21	Ataxia, Respiratory failure, Pulmonary hypoplasia	OMIM:615636
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Frontorhiny	Basal encephalocele, Cranium bifidum occultum, Encephalocele, Microphthalmia	ORPHA:391474
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Seizure, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Ataxia, Short ...	OMIM:614756
Diarrhea 10, Protein-Losing Enteropathy Type	Ascites, Protein-losing enteropathy, Hematochezia	OMIM:618183
Hallermann-Streiff Syndrome	Choreoathetosis, Bilateral tonic-clonic seizure, Proportionate short stature	OMIM:234100
Hypoplasminogenemia	Duodenal ulcer	ORPHA:722
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Cystic angiomatosis of bon...	OMIM:608594
Ablepharon-Macrostomia Syndrome	Camptodactyly, Ventral hernia, Omphalocele	OMIM:200110
Microcephaly-Micromelia Syndrome	Oligohydramnios, Microphthalmia	OMIM:251230
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
D-Bifunctional Protein Deficiency	Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Seizure	OMIM:261515
Bannayan-Riley-Ruvalcaba Syndrome	Abnormal large intestine morphology, Hypoglycemia, Intestinal polyposis, Narrow palate, Hamartoma...	ORPHA:109
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Hypsarrhythmia, Myoclonic spasms	ORPHA:447997
Walker-Warburg Syndrome	Anophthalmia, Microphthalmia	ORPHA:899
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Splenomegaly, Bone cyst, Generalized lymphaden...	OMIM:181000
Diets-Jongmans Syndrome	Duodenal atresia	OMIM:618846
Xeroderma Pigmentosum, Complementation Group D	Telangiectasia, Corneal neovascularization, Microphthalmia	OMIM:278730
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Epileptic spasm, Infantile s...	OMIM:620455
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia	OMIM:120200
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Bilateral tonic-clonic seizure, Myoclonus, Seizure, Ataxia	OMIM:618426
Beckwith-Wiedemann Syndrome	Diastasis recti, Omphalocele	OMIM:130650
Junctional Epidermolysis Bullosa With Pyloric Atresia	Congenital pyloric atresia, Intestinal atresia	ORPHA:79403
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent sinopulmonary infections, Respiratory failure, Recurrent respirato...	ORPHA:647
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Oliver Syndrome	Intrauterine growth retardation, Bilateral tonic-clonic seizure	ORPHA:2920
Myhre Syndrome	Camptodactyly, Respiratory failure, Ataxia, Respiratory insufficiency	OMIM:139210
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Respiratory insufficiency, Omphalocele, Pulmonary hypoplasia	ORPHA:93271
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Knobloch Syndrome	Lymphangioma, Pyloric stenosis	ORPHA:1571
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Steinert Myotonic Dystrophy	Falls, Respiratory insufficiency, Inability to walk, Gait disturbance, Respiratory insufficiency ...	ORPHA:273
Tarp Syndrome	Extramedullary hematopoiesis, Abnormal duodenum morphology, Glossoptosis, Tongue nodules, Cleft p...	ORPHA:2886
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Okamoto Syndrome	Omphalocele	ORPHA:2729
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Hemorrhagic Fever-Renal Syndrome	Pulmonary edema, Pneumonia, Pleural effusion, Respiratory failure	ORPHA:340
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad-based gait, Myoclonic seizure, Seizure, Gait ataxia, Bilateral tonic-clonic seizure	OMIM:280000
Liver Disease, Severe Congenital	Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, In...	OMIM:619991
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Pseudoleprechaunism Syndrome, Patterson Type	Bilateral tonic-clonic seizure, Atonic seizure	ORPHA:2976
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Encephalocele, Microphthalmia	OMIM:613150
Atelis Syndrome 2	Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis, Microphthalmia	OMIM:620185
3Q29 Microdeletion Syndrome	Pulmonary arterial hypertension, Microphthalmia	ORPHA:65286
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Pallister-Killian Syndrome	Camptodactyly of 2nd-5th fingers, Umbilical hernia, Inability to walk, Inguinal hernia, Congenita...	OMIM:601803
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Chylothorax, Lymphedema, Pleural effusion, Anophthalmia, Microphthalmia, Edema	ORPHA:2526
Trichothiodystrophy 1, Photosensitive	Telangiectasia, Microphthalmia	OMIM:601675
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure...	ORPHA:466943
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Micro Syndrome	Microphthalmia	ORPHA:2510
Charge Syndrome	Anal stenosis, Aplasia/Hypoplasia of the thymus, Lymphopenia, Tracheoesophageal fistula, Esophage...	OMIM:214800
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Meckel diverticulum, Maternal diabetes, Anteriorly pla...	ORPHA:1708
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Bilateral tonic-clonic seizure	ORPHA:79124
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Oligohydramnios, Microphthalmia	OMIM:251300
Cocaine Intoxication	Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Atypical absence status epilepticus...	ORPHA:90068
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a...	ORPHA:513456
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Plague	Inflammation of the large intestine, Lymphadenitis, Splenomegaly, Ileitis, Enterocolitis, Hematem...	ORPHA:707
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Cholelithiasis, Hypersplenism, Splenomegaly, Acute promyelocytic leukemia, Neoplasm o...	ORPHA:77293
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Tonic seizure, Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:619512
Tuberous Sclerosis Complex	Respiratory failure, Pulmonary lymphangiomyomatosis, Respiratory tract infection, Shagreen patch	ORPHA:805
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Failure to thrive, Seizure, Abnormal fear-induced behavior, Obesity, Emo...	ORPHA:353281
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Microphthalmia	ORPHA:464738
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Encephalocele, Microphthalmia	OMIM:614643
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Pneumothorax, Enamel hypoplasia, Respiratory failure	ORPHA:79404
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Oculoauricular Syndrome	Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele, Microphthalmia	OMIM:601707
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure	ORPHA:466950
Mycophenolate Mofetil Embryopathy	Hydrops fetalis, Microphthalmia	ORPHA:268249
Townes-Brocks Syndrome 1	Anal stenosis, Gastroesophageal reflux, Tracheoesophageal fistula, Rectoperineal fistula, Anal at...	OMIM:107480
Pelvis-Shoulder Dysplasia	Hydranencephaly, Spina bifida, Bilateral microphthalmos	ORPHA:2839
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Duane-Radial Ray Syndrome	Spina bifida occulta, Optic disc hypoplasia, Microphthalmia	OMIM:607323
Ogden Syndrome	Generalized-onset seizure, Postnatal growth retardation, Intrauterine growth retardation, Bilater...	OMIM:300855
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Oligohydramnios, Microphthalmia	ORPHA:364577
Costello Syndrome	Respiratory insufficiency, Pneumothorax, Respiratory failure, Achilles tendon contracture	OMIM:218040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Buphthalmos, Meningoencephalocele, Optic nerve hypoplasia	OMIM:236670
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Benign Schwannoma	Abnormality of peripheral nervous system electrophysiology, Allodynia	ORPHA:252164
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Danon Disease	Hypokinesia	OMIM:300257
Choreoacanthocytosis	Falls, Decreased amplitude of sensory action potentials, Seizure, Loss of ambulation, Head tituba...	ORPHA:2388
Ear-Patella-Short Stature Syndrome	Respiratory failure, Camptodactyly of finger	ORPHA:2554
Fraser Syndrome 1	Abnormal thymus morphology, Abnormal small intestine morphology, Abnormality of the anus, Cleft p...	OMIM:219000
Microphthalmia With Linear Skin Defects Syndrome	Abnormal dental enamel morphology, Respiratory failure, Congenital diaphragmatic hernia	ORPHA:2556
Meckel Syndrome	Oligohydramnios, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, Microphthalmia, Ane...	ORPHA:564
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Wilson Disease	Decreased nerve conduction velocity, Chondrocalcinosis, Hypokinesia	OMIM:277900
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Difficulty walking, Gait ataxia, Bilateral tonic-clonic seizure	ORPHA:457359
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Cohen Syndrome	Microphthalmia	ORPHA:193
Coffin-Siris Syndrome 1	Intestinal malrotation, High palate, Duodenal ulcer, Gastric ulcer, Cleft palate, Intussusception	OMIM:135900
Fraser Syndrome 2	Respiratory failure	OMIM:617666
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Holoprosencephaly 14	EEG abnormality, Bilateral tonic-clonic seizure	OMIM:619895
Incontinentia Pigmenti	Retinal hemorrhage, Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Rat-Bite Fever	Diminished movement	ORPHA:31205
Cousin Syndrome	Hydranencephaly, Microphthalmia	OMIM:260660
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Microphthalmia	OMIM:615877
Viss Syndrome	High, narrow palate, Bifid uvula, Gastroesophageal reflux, Broad uvula, Celiac disease, Intestina...	OMIM:619472
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Arrhythmia, Histiocytoid cardiomyopathy, Microphthalmia	OMIM:309801
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Neu-Laxova Syndrome 1	Generalized edema, Hydranencephaly, Small placenta, Short umbilical cord, Spina bifida, Microphth...	OMIM:256520
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Optic nerve hypoplasia, Spina bifida, Microphthalmia	ORPHA:508498
Microphthalmia, Syndromic 3	Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:206900
Teebi-Shaltout Syndrome	Aortic valve stenosis, Microphthalmia	OMIM:272950
Fanconi Anemia	Umbilical hernia, Hypertrophic cardiomyopathy, Oligohydramnios, Aplasia/Hypoplasia of the iris, S...	ORPHA:84
Epidermolysis Bullosa Simplex With Pyloric Atresia	Congenital pyloric atresia	ORPHA:158684
Cockayne Syndrome Type 3	Subdural hemorrhage, Cardiomyopathy, Microphthalmia, Retinal hemorrhage, Increased blood pressure	ORPHA:90324
Adams-Oliver Syndrome 1	Aortic valve stenosis, Encephalocele, Pulmonary arterial hypertension, Microphthalmia, Hypertensi...	OMIM:100300
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Emphysema, Unilateral lung agenesis, Respiratory failure	ORPHA:500150
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Yunis-Varon Syndrome	Cardiomyopathy, Bilateral microphthalmos, Increased nuchal translucency, Pulmonary arterial hyper...	ORPHA:3472
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Gaucher Disease	Delayed puberty, Bilateral tonic-clonic seizure, Ataxia, Short stature, Generalized myoclonic sei...	ORPHA:355
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Hiatus hernia, Abnormal duodenum morphology, High palate, Cleft palate	OMIM:601776
Basal Cell Nevus Syndrome 1	Spina bifida, Microphthalmia	OMIM:109400
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Oculodentodigital Dysplasia	Arrhythmia, Microphthalmia	OMIM:164200
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Polyhydramnios, Pulmonary arterial hypertension, Branchial cyst, Microphthalmia	OMIM:620186
Hallermann-Streiff Syndrome	Microphthalmia, Congestive heart failure	ORPHA:2108
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (wi...	OMIM:620330
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Trichothiodystrophy	Bilateral microphthalmos, Cardiomyopathy, Umbilical hernia	ORPHA:33364
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Restrictive Dermopathy	Osteopenia, Microcolon, Submucous cleft hard palate, Decreased skull ossification	ORPHA:1662
Cockayne Syndrome B	Hypoplasia of the iris, Arrhythmia, Hypertension, Microphthalmia	OMIM:133540
Autosomal Recessive Cutis Laxa Type 1	Small bowel diverticula, Pyloric stenosis	ORPHA:90349
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Myoclonic spasms, Bilateral tonic-clonic seizure	ORPHA:73224
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Seizure, Bilateral tonic-clonic seizure on awakening, Inability to walk, Epilep...	ORPHA:438213
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia	ORPHA:2250
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia	OMIM:608940
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Pulmonary arterial hypertension, Portal hypertension, Microphthalmia	OMIM:620005
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Treacher-Collins Syndrome	Branchial fistula, Encephalocele, Microphthalmia	ORPHA:861
Fontaine Progeroid Syndrome	Umbilical hernia, Tricuspid regurgitation, Oligohydramnios, Pulmonary arterial hypertension, Micr...	OMIM:612289
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Failure to thrive, Seizure, Abnormal fear-induced behavior, Obesity, Emo...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Failure to thrive, Seizure, Abnormal fear-induced behavior, Obesity, Emo...	ORPHA:353277
Neurotrophic Keratopathy	Corneal scarring, Allodynia	ORPHA:137596
Jacobsen Syndrome	Macular hypoplasia, Microphthalmia	OMIM:147791
Microphthalmia, Syndromic 2	Aortic valve stenosis, Umbilical hernia, Anophthalmia, Phthisis bulbi, Microphthalmia, Pulmonic s...	OMIM:300166
Rothmund-Thomson Syndrome, Type 2	Telangiectasia, Microphthalmia	OMIM:268400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Respiratory failure	ORPHA:2636
Orofaciodigital Syndrome Type 2	Short stature, Bilateral tonic-clonic seizure	ORPHA:2751
Simpson-Golabi-Behmel Syndrome, Type 1	Two carpal ossification centers present at birth, Narrow palate, Exaggerated median tongue furrow...	OMIM:312870
Williams Syndrome	Osteopenia, Peptic ulcer, Gastroesophageal reflux, Colonic diverticula, Cholelithiasis, Increased...	ORPHA:904
Hartsfield Syndrome	Growth delay, Bilateral tonic-clonic seizure	OMIM:615465
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microphthalmia	ORPHA:959
Degcags Syndrome	Pulmonary arterial hypertension, Microphthalmia, Polyhydramnios, Tachycardia, Pulmonic stenosis	OMIM:619488
Doors Syndrome	EEG abnormality, Myoclonus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	ORPHA:79500
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Aicardi Syndrome	Spina bifida, Microphthalmia	OMIM:304050
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Roberts Syndrome	Polyhydramnios, Microphthalmia	ORPHA:3103
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Ulbright-Hodes Syndrome	Pneumothorax, Respiratory failure, Pulmonary hypoplasia	ORPHA:3404
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Oligohydramnios, Microphthalmia	OMIM:608670
Mend Syndrome	Aortic valve stenosis, Microphthalmia	ORPHA:401973
Cockayne Syndrome	Retinal hemorrhage, Hypertension, Microphthalmia	ORPHA:191
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure	OMIM:612474
Isolated Posterior Meningocele	Difficulty walking, Hypokinesia	ORPHA:268810
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Umbilical hernia	OMIM:613884
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Aicardi Syndrome	Microphthalmia	ORPHA:50
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Microphthalmia With Limb Anomalies	True anophthalmia, Microphthalmia	ORPHA:1106
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Holoprosencephaly 9	Optic nerve hypoplasia, Occipital meningocele, Anophthalmia, Microphthalmia	OMIM:610829
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Phace Syndrome	Lens coloboma, Optic nerve hypoplasia, Microphthalmia	ORPHA:42775
Monosomy 9P	Microphthalmia	ORPHA:261112
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Witteveen-Kolk Syndrome	Polyhydramnios, Intracranial hemorrhage, Branchial fistula, Microphthalmia	OMIM:613406
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Cerebral hemorrhage, Ischemic stroke, Corneal neovascularization, Microph...	OMIM:175780
Neuroocular Syndrome 1	Hypoplasia of the fovea, Lens coloboma, Microphthalmia, Umbilical hernia	OMIM:619539
Kabuki Syndrome 1	Focal impaired awareness seizure, Seizure, Postnatal growth retardation, Short stature, Growth de...	OMIM:147920
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Branchial cyst, Bilateral microphthalmos, Oligohydramnios, Spina bif...	ORPHA:508488
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Proboscis Lateralis	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	ORPHA:141099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Pallister-Hall Syndrome	Microphthalmia, Oligohydramnios, Umbilical hernia	ORPHA:672
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Sotos Syndrome	Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-...	ORPHA:821
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Branchiooculofacial Syndrome	Branchial anomaly, Anophthalmia, Microphthalmia	OMIM:113620
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Norrie Disease	Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:649
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Frontal encephalocele, Microphthalmia	OMIM:268300
Mowat-Wilson Syndrome	Pulmonic stenosis, Microphthalmia	OMIM:235730
Microphthalmia, Syndromic 6	Anophthalmia, Microphthalmia	OMIM:607932
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Pulmonic stenosis, Hyphema, Microphthalmia	ORPHA:261552
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Pulmonic stenosis, Microphthalmia	ORPHA:261537
Mowat-Wilson Syndrome	Aortic valve stenosis, Pulmonic stenosis, Microphthalmia	ORPHA:2152
Townes-Brocks Syndrome	Microphthalmia	ORPHA:857
Craniofacial Microsomia 1	Branchial anomaly, Occipital encephalocele, Anophthalmia, Microphthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Anophthalmia, Microphthalmia	OMIM:309800

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.

There is no histopathology data for Slc12a5

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Slc12a5.

No publications found that use IMPC mice or data for Slc12a5.

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MGI Allele	Allele Type	Produced
Slc12a5^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Slc12a5^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Slc12a5 MGI:1862037

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E14.5-E15.5

X-ray

MicroCT E14.5-E15.5

X-ray

Human diseases caused by Slc12a5 mutations

Histopathology

IMPC related publications

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The IMPC Newsletter

Access Data Release 21.1 Data