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Gene: Lpin1 MGI:1891340

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
lipin 1
Synonyms:
Lipin1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Lpin1 mutations

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

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

The table below shows human diseases associated to Lpin1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Genetic Recurrent Myoglobinuria
Elevated hepatic transaminase, Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, ... ORPHA:99845
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Increased circulating lactate dehydrogenase concentration OMIM:268200

The table below shows human diseases predicted to be associated to Lpin1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Ankle flexion contracture, Decreased nerve conduction ... OMIM:611228
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Gait dist... ORPHA:2398
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Limitation of movement at ankles, Decreased distal sen... ORPHA:206594
Chronic Inflammatory Demyelinating Polyneuropathy
Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Unsteady g... ORPHA:2932
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, CNS hypomyelinatio... ORPHA:280234
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:614895
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118210
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607734
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Caudate atrophy, Reduced intraabdominal adipos... ORPHA:363400
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609311
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Difficulty walking, Decreased sensory nerve conduction... OMIM:608323
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Gait disturbance, Peripheral demyelination ORPHA:99944
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Steppage gait, Onion bul... OMIM:610100
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... OMIM:605253
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Decreased nerve conduction veloci... ORPHA:99939
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly... OMIM:612526
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:605588
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resista... ORPHA:79085
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Claw hand deformity, Decreased number of large periphe... OMIM:605285
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye... OMIM:162500
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Steppage gait, Onion bulb formation, Peripheral demyelination, Axon... OMIM:620378
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... ORPHA:99953
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Decreased compound muscle action potential amplitude, Steppage gait, Difficulty walking, Onion bu... OMIM:618279
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination ORPHA:431329
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Steppage gait, Difficulty walking, Onion bulb f... OMIM:606483
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Steppage gait, Claw hand deformity, Chronic axonal neu... OMIM:606595
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Decreased nerve conduction velocity, Flexion contracture, Unstead... ORPHA:101097
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes mellitus, Oligomenorrh... OMIM:613877
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Gait ataxia, Loss of ambulation, CNS demyelination, Peripher... OMIM:249900
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy, Gait disturbance, ... ORPHA:101081
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435660
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal autonomic nervous system physiology, Leukodystrophy DECIPHER:59
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:604563
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... DECIPHER:29
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Difficulty walking OMIM:620111
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:618184
Congenital Generalized Lipodystrophy
Adipose tissue loss, Low anterior hairline, Hepatic steatosis, Hepatomegaly, Insulin resistance, ... ORPHA:528
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:600882
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Steppage gait OMIM:607678
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Hand... OMIM:604484
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Difficulty walking, Lowe... OMIM:600361
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Difficulty walking, Decreased amplitude of sensory act... OMIM:618912
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation OMIM:616039
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Foot joint contracture, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, EE... ORPHA:457205
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Steppage gait OMIM:302801
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... OMIM:607684
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... ORPHA:98890
Charcot-Marie-Tooth Disease Type 4A
Limited interphalangeal movement, Limited wrist movement, Decreased nerve conduction velocity, De... ORPHA:99948
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma OMIM:613641
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Gait disturbance, Loss of ambulation, Myelin outfoldings, On... OMIM:615284
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Joint hypermobility OMIM:608895
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo... OMIM:615703
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... OMIM:610717
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435651
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Gait disturbance, Segmental peripheral demyelination/remyeli... OMIM:311070
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Irregular menst... OMIM:615238
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Unsteady gait, Onion bulb formation, Gait ataxia ORPHA:98916
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:605726
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Tip-toe gait, Unsteady gait, EEG with gen... ORPHA:2386
Rft1-Cdg
Hepatomegaly, Ataxia, Cerebral atrophy, Arthrogryposis multiplex congenita, Failure to thrive, Ce... ORPHA:244310
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, My... OMIM:615924
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Leukodystrophy, Hypomyelinating, 18
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Flexion contractur... OMIM:618404
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude, Difficulty walking OMIM:619112
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Steppage gait, Difficulty walking ORPHA:352675
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Lipoatrophy ORPHA:79087
Pparg-Related Familial Partial Lipodystrophy
Dysmenorrhea, Maternal diabetes, Prominent veins on trunk, Hepatic steatosis, Generalized hirsuti... ORPHA:79083
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene... OMIM:607677
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Inability to walk, Gait ... ORPHA:101077
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Ataxia, Gait disturbance ORPHA:101078
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Joint hyperflexibility, Ataxia ORPHA:1188
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Peripheral axonal neuropathy, Broad-based gait, Decreased nerve conduction velocity, Limited knee... ORPHA:435387
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Lipod... ORPHA:2348
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration OMIM:607731
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos... OMIM:608709
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:98856
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Steppage gait, Onion bulb formation, Peripheral demyelination, Axonal regeneration OMIM:615185
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, S... OMIM:614436
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance ORPHA:2274
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... ORPHA:90103
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet... OMIM:615381
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creati... OMIM:208920
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hepatocellular carc... ORPHA:369
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607250
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Segmental peripheral demyelination/remy... OMIM:601455
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Difficulty walking OMIM:615575
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... OMIM:151660
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle... OMIM:616040
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination ORPHA:101082
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity OMIM:611105
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... ORPHA:497764
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration, Elbow flexion contracture, Waddling gait OMIM:618138
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... OMIM:615980
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Ataxia OMIM:183050
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Ataxia, Gait disturbance ORPHA:101075
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Dysmenorrhea, Precocious at... ORPHA:280365
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Vomiting, Hepati... OMIM:614480
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Galactokinase Deficiency
Speech apraxia, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Premature ov... ORPHA:79237
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
EEG abnormality, Axonal loss, Gait disturbance, Abnormal upper motor neuron morphology, Pathologi... OMIM:221770
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:613287
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating peripheral... OMIM:218000
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Ataxia ORPHA:1368
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:302800
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Ataxia, Peripheral demyelination, Difficulty walking OMIM:616684
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Inguinal hernia, Bila... OMIM:261550
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... OMIM:278000
Autosomal Recessive Spastic Paraplegia Type 21
Difficulty walking, Gait disturbance, Abnormality of peripheral nerve conduction ORPHA:101001
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Unsteady gait, Limb ataxia, Gait ataxia, Acute demyeli... ORPHA:3115
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Steppage gait OMIM:302802
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Foot osteomyelitis, Gait disturbance, Abnormal autonom... ORPHA:139578
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Steppage gait, Onion bulb formation... OMIM:608340
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Flexion contracture of finger, Ataxia, Broad-based g... OMIM:609033
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Foam cells with lame... OMIM:607616
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Choreoathetosis, Leukodystrophy OMIM:614932
Distal Hereditary Motor Neuropathy Type 5
Unsteady gait, Abnormal motor nerve conduction velocity ORPHA:139536
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Axonal degener... OMIM:604168
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Axonal loss, Achilles tendon contracture, Motor axonal... OMIM:620068
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Subcortical cere... ORPHA:306692
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Krabbe Disease
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, CNS demyelination, Periphera... OMIM:245200
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Tremor, Abnormality of the seventh cranial ne... ORPHA:90117
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607831
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Steppage gait, Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Gait disturbance, Camptodactyly of finger ORPHA:2928
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Cerebellar vermis atrophy OMIM:617018
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gai... ORPHA:521406
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Elevated circulating creatine kinase concentration OMIM:616687
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction ORPHA:65684
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrophy, Dysmetri... OMIM:612674
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Inability to walk, Unsteady gait, Demyelinating periph... ORPHA:99950
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... OMIM:616053
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Increased int... ORPHA:276435
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:619279
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy, Steppage gait, Difficulty walking, Onion bulb formation OMIM:615035
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Dia... ORPHA:75234
Peroxisome Biogenesis Disorder 8B
Ataxia, Unsteady gait, Optic atrophy, Dysmetria, Gait ataxia, Tip-toe gait, Leukodystrophy, Loss ... OMIM:614877
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... OMIM:608612
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia ORPHA:99014
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Axonal loss, Steppage gait, Gait disturbance OMIM:118300
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Tremor, Oromotor apraxia, Primary hypothyroidism, F... ORPHA:300536
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepatic transaminase, Acut... OMIM:608594
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... ORPHA:79086
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Flexion contracture, Peripheral hypomyelination, Distal arthrogryposis OMIM:616287
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepatic transaminase, Acut... OMIM:269700
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor OMIM:614278
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Foot... OMIM:201300
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity, Unsteady gait, Ataxia, Dysmetria OMIM:159550
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, De... OMIM:270550
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, Al... OMIM:248370
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Clonus, Dysmetria, Gait ataxia, Glucose intolerance, Vomiting, S... OMIM:606721
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Foot osteomyelitis, Osteomyelitis, Decreased number of... OMIM:162400
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia, Spastic tetraparesis, Progressive cerebellar ataxia, Dystonia, Failur... ORPHA:67046
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Alopecia, Hypertriglyceri... OMIM:203800
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased body weight, Vomiting... ORPHA:264580
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Alopecia, Ataxia, Abdominal pain, Abdominal distention, Diarrhea, ... OMIM:212750
Cimdag Syndrome
Hepatomegaly, Lipodystrophy, Ataxia, Microvesicular hepatic steatosis, Chorea, Cerebral atrophy, ... OMIM:619273
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Gait disturbance OMIM:618400
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Flexion contracture, Leu... OMIM:619851
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism... OMIM:615768
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Poor appetite, Gastrointestinal dysmotility, Vomiting,... ORPHA:298
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Donohue Syndrome
Clitoral hypertrophy, Precocious puberty, Adipose tissue loss, Abdominal distention, Long penis, ... OMIM:246200
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly, Babinski sign, Abnormal glycosphingolipid metabolism, Hyperkinetic mo... OMIM:611721
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Autosomal Dominant Spastic Paraplegia Type 17
Knee pain, Spastic gait, Abnormal motor nerve conduction velocity ORPHA:100998
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Thic... ORPHA:263501
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Ankle flexion contracture, Decreased nerve conduction velocity, Delayed myelinat... ORPHA:319514
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... ORPHA:436182
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Arthritis, Axonal loss, Decreased amplitude of sensory actio... ORPHA:85446
Acromicric Dysplasia
Decreased nerve conduction velocity, Delayed skeletal maturation, Joint stiffness ORPHA:969
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy... ORPHA:79299
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, CNS hypomyelination, Leukodystrophy, Loss of ambulatio... OMIM:610532
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... OMIM:617872
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity, Premature coronary artery atherosclerosis OMIM:608320
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Precocious atherosclerosis, Gluco... OMIM:145750
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Demyelinating sensory neuropathy, Optic nerve hypoplasia, De... ORPHA:101085
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Ataxia, G... OMIM:603472
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Dysmenorrhea, Ketotic hypoglycemia, Increased... ORPHA:79240
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you... ORPHA:324575
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Spasticity, Tremor, Gait ataxia ORPHA:217012
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... ORPHA:363710
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Demyelinating motor neuropathy, ... OMIM:608804
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type IV athe... OMIM:144300
H Syndrome
Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Am... ORPHA:168569
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Impotence, Cirr... OMIM:606069
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Inability to walk, Axonal loss, Ataxia, Peripheral demyelination OMIM:617672
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal... ORPHA:98762
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Low anterior hairline, Primary amenorrhea, Delayed thel... OMIM:616033
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating as... ORPHA:2088
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Waddling gait, Facial palsy, Decreased compound muscle action potential amplitude, Flexion contra... OMIM:603511
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Classic Galactosemia
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Ataxia, Cryptorchidism, Secondar... ORPHA:79239
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619048
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration, Inguinal hernia, Optic nerve hypoplasia, Flexion... OMIM:222765
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Abnormal myelination ORPHA:401840
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr... ORPHA:98855
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Failure to thrive, Abdominal distention, Diarrhea, Cryptorchidism, Elevated circula... OMIM:608104
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, Peripheral demyelin... OMIM:250100
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr... ORPHA:98863
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr... ORPHA:98853
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic s... ORPHA:276575
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... OMIM:603552
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... ORPHA:206443
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... OMIM:301033
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Torticollis, Head tremor, Dystonia, Intention tremor OMIM:613724
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Foam cells, Hypertriglyceridemia, Decreased lecithin cho... OMIM:245900
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Hepat... OMIM:616719
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Failure to thrive, Diffuse cerebral atrophy, Small for gestational age, Crypt... OMIM:214150
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, H... OMIM:300635
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Abdominal distention, Dia... ORPHA:71
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline... ORPHA:276580
Sandhoff Disease, Adult Form
Dystonia, Reduced beta-hexosaminidase activity, Elevated circulating creatine kinase concentratio... ORPHA:309169
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Hyperextensibility of the finger joints, Ataxia, Decreased nerve conduction velocity, Dysmetria, ... OMIM:618356
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Smith-Magenis Syndrome
Hypertriglyceridemia, Impaired pain sensation, Abnormality of the thyroid gland, Synophrys, Incre... OMIM:182290
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Limb ataxia, Gait ataxia OMIM:619862
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... ORPHA:206448
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Atypical Werner Syndrome
Abnormal cerebral vascular morphology, Abnormal hair whorl, Fasting hyperinsulinemia, Premature g... ORPHA:79474
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... ORPHA:263455
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Feeding difficulties in i... OMIM:619013
Adrenomyeloneuropathy
Peripheral axonal degeneration, Axonal degeneration, Adrenocortical abnormality, Abnormal circula... ORPHA:139399
Congenital Disorder Of Glycosylation, Type Ia
Feeding difficulties in infancy, Tremor, Flexion contracture, Dysmetria, Vomiting, Hypoalbuminemi... OMIM:212065
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C... OMIM:256040
Multifocal Motor Neuropathy
Motor conduction block, Limited wrist extension ORPHA:641
Wolman Disease
Nausea and vomiting, Hepatomegaly, Adrenal calcification, Cachexia, Bone-marrow foam cells, Abdom... ORPHA:75233
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... ORPHA:94124
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Tremor, Inability to walk, Flexion contracture, Clumsiness, Hepatosplenomegaly, Ey... ORPHA:2590
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Steppage gait, Onion bulb formation, Claw hand deformity OMIM:614455
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Babinski si... OMIM:264470
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Adiposis Dolorosa
Abdominal distention, Constipation, Obesity, Painful subcutaneous lipomas OMIM:103200
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hypertonia, Dystonia, Failure to thrive, Hepatic steatosis ORPHA:26792
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Foot osteomyelitis, Peripheral axonal neuropathy, Spas... OMIM:256840
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... ORPHA:2924
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Insulin resistance, Generalized l... ORPHA:90154
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Precocious atherosclerosis, Microvesicular hepatic... ORPHA:275761
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Increased cerebral lipofuscin, Myoclonus, Hypocholeste... OMIM:610539
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Painless fractu... OMIM:256810
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... OMIM:602433
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... OMIM:611302
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Impaired pain sensation, Precocious puberty, ... ORPHA:819
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... OMIM:300423
Familial Multiple Lipomatosis
Lipodystrophy, Functional intestinal obstruction, Increased adipose tissue, Insulin resistance, H... ORPHA:199276
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Ataxia, Gait ataxia, Difficulty walking, Decreased amp... OMIM:616688
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude, Flexion contracture, Joint hypermobility OMIM:618323
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ataxia OMIM:256600
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Autonomic bladder dysfunction, Leukodystrophy, Autono... OMIM:169500
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F... OMIM:617591
Spinocerebellar Ataxia Type 1
Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait disturbance, Ga... ORPHA:98755
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Babinski sign, Hand tremor, Neurodeg... OMIM:615889
Werner Syndrome
Abnormal cerebral vascular morphology, Abnormal hair whorl, Premature graying of hair, Thyroid ca... ORPHA:902
Macrocephaly-Intellectual Disability-Autism Syndrome
Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Hepatic steatosis ORPHA:210548
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, P... ORPHA:363618
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Hypsarrhythmia OMIM:618856
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Unsteady gait, Ad... OMIM:210000
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ... OMIM:603516
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Flexion cont... OMIM:615491
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Optic atrophy, Atypical scarring of skin, Hypogon... ORPHA:791
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Autosomal Recessive Spastic Paraplegia Type 25
Lower limb pain, Upper limb pain, Abnormality of peripheral nerve conduction ORPHA:101005
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Ataxia, Micronodular... ORPHA:98907
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Abetalipoproteinemia
CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis OMIM:620357
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers, Progressive cerebellar ataxia, Gait... ORPHA:101111
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Se... ORPHA:3085
Yuan-Harel-Lupski Syndrome
Joint laxity, Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Gait ataxia, ... OMIM:616652
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia OMIM:618970
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg... OMIM:609136
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... ORPHA:314632
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Camptodactyly of finger, Osteoporosis, Dysmetria, Abnormality of peripheral nerve conduct... ORPHA:48431
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ... OMIM:277700
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Camptodactyly of finger, Decreased nerve conduction velocity, Axo... OMIM:604320
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration, Atherosclerosis OMIM:603813
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Ataxia, Broad-based gait, Cryptorchidism, Insulin resistance,... OMIM:616541
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia, Obesity OMIM:620195
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Hypoplasia of penis, Femoral hernia, Cryptorchidism, Abnormal panc... ORPHA:2849
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Unsteady gait, Knee flexion contracture, Wrist flexion contr... OMIM:618733
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Plantar flexion contr... OMIM:620011
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Spastic gait OMIM:238970
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Peripheral demyelination OMIM:616733
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... OMIM:267700
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysm... OMIM:617145
Cholestasis-Lymphedema Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pa... ORPHA:1414
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude, Wrist flexion contracture OMIM:619519
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Clumsiness,... OMIM:277460
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Bowel incontinence, Truncal titubation, Gastrointestinal dysmotility, Axonal degeneration... ORPHA:88628
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Abnormal circulating acylcarnitine concentration, Elevated hepatic transam... ORPHA:71212
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Neurodegeneration, Gait dist... OMIM:615643
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Abnormal thyroid morp... ORPHA:139507
Combined Oxidative Phosphorylation Deficiency 21
Increased cerebral lipofuscin, Hepatic steatosis, Cerebral atrophy, Limb hypertonia OMIM:615918
Aromatase Deficiency
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... ORPHA:91
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Loss of ambulation, Decreased compound muscle action pote... OMIM:606353
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... ORPHA:216873
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Abdominal distention, Elevated circulating alkaline phosphatase concent... OMIM:174050
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Neoplasm of the pancreas, Somatic sensory dysfunction, Torticollis, Metrorrh... ORPHA:370348
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglyce... ORPHA:276556
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Spastic gait OMIM:270685
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Cerebrotendinous Xanthomatosis
Precocious atherosclerosis, Axonal degeneration, Abnormal pyramidal sign, Gliosis, Hypothyroidism... ORPHA:909
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Elevated gamma-glutamylt... ORPHA:247598
Diaminopentanuria
Spasticity, Neurodegeneration, Ataxia OMIM:222350
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho... ORPHA:79263
Hypoglycemia, Leucine-Induced
Spasticity, Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia OMIM:240800
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Ataxia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Adrena... OMIM:617575
Spermatogenic Failure 17
Male infertility OMIM:617214
Hypermanganesemia With Dystonia 2
Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Ce... OMIM:617013
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Analbuminemia
Lipodystrophy, Patent ductus arteriosus, Elevated circulating transferrin concentration, Increase... OMIM:616000
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly, Ataxia, Cerebral atrophy, Myoclonus, Spasticity, Failure to thrive OMIM:612015
Leprechaunism
Increased circulating renin level, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Hepato... ORPHA:508
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Vo... OMIM:277900
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Dysbetalipoproteinemia
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hepatic steatosis, Diabetes... ORPHA:412
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hypoglycemia, Cachexia, Cardiomegaly, Distal... ORPHA:42
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Babinski sign,... OMIM:612319
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar... OMIM:615558
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus OMIM:616187
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Sialidosis Type 1
Ataxia, Decreased nerve conduction velocity, Delayed skeletal maturation, EEG abnormality, Gait d... ORPHA:812
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... OMIM:227810
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration, Premature coronary artery at... OMIM:618666
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Facial palsy, Decreased compound muscle action potential amplitude, ... OMIM:301830
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic... ORPHA:276608
Squalene Synthase Deficiency
Failure to thrive in infancy, Optic nerve hypoplasia, Hypospadias, Increased circulating farnesol... OMIM:618156
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Ataxia, Inability to walk, Chorea, Decreased liver function, Spasticity, Fa... ORPHA:70472
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Diarrhea, Vomiting, Hypoalbuminemia, Hepatic fibrosis, Steatorrh... OMIM:602579
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Diffi... ORPHA:330050
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Ataxia, Increase... OMIM:603553
Spinocerebellar Ataxia 23
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Neuronal loss in ... OMIM:610245
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Feeding difficulties, Poor fin... ORPHA:254531
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Aganglionic megacolon, Abdominal distention, Diarrhea, Malnutrition... ORPHA:95427
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size ORPHA:98797
Thyroid Hemiagenesis
Thyroid agenesis, Abdominal distention, Jaundice, Constipation, Umbilical hernia ORPHA:95719
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins... OMIM:615157
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Decreased nerve conduction velocity, Congenital foot contractures, Hypsarrhyth... ORPHA:565624
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, EEG with burst suppression, Congenital contracture, Flexion ... OMIM:615368
Cednik Syndrome
Ataxia, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Inflammation of the large intestine, Hepatic steatosis, Hypothyroidism, He... ORPHA:79259
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity, Camptodactyly of finger ORPHA:2926
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Foam cells with lamellar inclusion bodies, Elevated circulating ... OMIM:257200
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Gait ataxia ORPHA:438134
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ... ORPHA:536532
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased cir... ORPHA:1227
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Vomiting, Decreased male libido, Nausea, Abdom... ORPHA:330015
Alg12-Cdg
Hyponatremia, Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Abnorm... ORPHA:79324
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Ataxia, Cachexia, Abdominal pain, Abdominal distention, Gastrointe... OMIM:613662
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Facial palsy, Abnormal motor nerve conduction velocity OMIM:614399
Familial Chylomicronemia Syndrome
Nausea and vomiting, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Precocious athe... ORPHA:444490
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Neurodegeneration, Cerebral atrophy OMIM:610951
Rabson-Mendenhall Syndrome
Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting h... ORPHA:769
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Steppage gait, Abnormal peripheral myeli... ORPHA:168563
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Flexion contracture, Cerebral atrophy, Hypogonadism, Joint contracture OMIM:608540
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Abdominal distention, Chorea,... ORPHA:79097
Trehalase Deficiency
Abnormal circulating enzyme concentration or activity, Abdominal pain, Abdominal distention, Diar... ORPHA:103909
Trigeminal Neuralgia
CNS demyelination, Cranial nerve compression, Peripheral demyelination ORPHA:221091
Chédiak-Higashi Syndrome
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Hyponatremia, Ataxia, P... ORPHA:167
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Optic Atrophy 11
Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, EEG with fo... OMIM:617302
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul... ORPHA:90003
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Ataxia, Severe demyelination of the white matter, Opti... ORPHA:1187
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Inability to walk, Steppage gait, Gait disturbance, Gait imb... ORPHA:90658
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Alopecia, Dorsocervical fat pad, Paradoxical... ORPHA:189427
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Vomiting, Failure to t... OMIM:606528
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Inability to walk, Limb pain, Steppage gait, Gait imbalance, Abnormality of the au... ORPHA:36386
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... ORPHA:309256
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Abdominal distention, Splenomegaly, Panc... OMIM:235255
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Feeding difficulties in infancy, Abdominal distention, Elevated circul... ORPHA:226313
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Ataxia ORPHA:1933
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... ORPHA:97279
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn... ORPHA:273
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 4
Feeding difficulties, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Poor appeti... ORPHA:3163
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Cerebral... OMIM:261680
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Abnormality of thyroid physiology, Transient ischemic attack, Abdomina... ORPHA:1830
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating enzyme concentration or activity, Ankle flexion contracture, A... ORPHA:100924
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Tremor, Flexion contracture, Cerebral atrophy, Opisthotonus, Choreoat... OMIM:616271
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Elevated circulating alanine aminot... OMIM:618805
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Steppage gait, Gait disturbance, Distal sensory impairment OMIM:616155
Cholesterol-Ester Transfer Protein Deficiency
Precocious atherosclerosis, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholest... ORPHA:79506
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Rigidity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis,... OMIM:610185
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Unsteady gait, Difficulty wal... ORPHA:600
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,... OMIM:619418
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Dystonia,... OMIM:617916
Short Syndrome
Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin-resistant diabete... OMIM:269880
Mitochondrial Dna Depletion Syndrome 18
Clonus, Axonal degeneration, Falls, Tongue fasciculations, Failure to thrive OMIM:618811
Primary Hepatic Neuroendocrine Carcinoma
Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated carcinoembryonic antigen leve... ORPHA:100085
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... ORPHA:79319
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Tremor, Mildly elevated creatine kinase ORPHA:397744
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone sti... ORPHA:3464
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Joint contracture, Optic atrophy OMIM:615419
Amyotrophic Lateral Sclerosis 21
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron m... OMIM:606070
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Abdominal distention, Splenomegaly, Pancreatic lymphangiectasis, C... ORPHA:1655
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ... ORPHA:98763
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Elevated hepatic transaminase, Hypothyroidism, Abnormal pyramidal sign, Cereb... ORPHA:445038
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Clumsiness, Distal sens... ORPHA:488650
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Abdominal distention, Hyperlipidemia, Hypoalbuminemia... OMIM:256300
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Spars... OMIM:619127
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebellar atrophy, Spastic ataxia, Tremor, Flexion contracture, Slurred speech, Babinski sign, C... ORPHA:137898
Dpm1-Cdg
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Cerebral atrophy, Knee f... ORPHA:79322
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Steppage gait, Axona... OMIM:601152
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Flexion contracture, Babinski sign, Obesi... OMIM:300055
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Rigidity, Splenomegaly, Tremor, Dystonia, Loss of ambulation OMIM:615010
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... ORPHA:454887
Essential Fructosuria
Hyperglycemia ORPHA:2056
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia OMIM:618398
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Hyperlipidemia, Diarrhea, Vomiting, Hypoalbuminemia, Hypercholesterolemia, Failu... OMIM:615863
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Ataxia, Tremor, Splenomegaly, Flexion contracture, Umbilical herni... ORPHA:87876
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Speech apraxia, Ataxia, Dystonia... OMIM:615356
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Limitation of joint mobility ORPHA:93476
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Cerebral cortical hemiatrophy, Brain a... ORPHA:306669
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dyst... OMIM:618224
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Broad-based gait, Elbow flexion contracture, Spastic tetraparesis OMIM:619470
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Multiple joint contrac... ORPHA:2959
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Steppage gait, Ga... ORPHA:101076
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL... ORPHA:209902
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Myoclonus, Dystonia, Frequent falls, Hypothyroidism OMIM:619647
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Abdominal pain, Increased circulating ferritin concentration, Diarrhea, Spl... OMIM:619802
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... OMIM:617435
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis ORPHA:313906
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Peripheral axonal neuropathy, Brittle hair, Feeding difficulties in infancy, Sparse... OMIM:618810
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Flexion c... OMIM:619026
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Type I di... OMIM:616192
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Hyperlipidemia, Flexion contracture, Ins... ORPHA:90153
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity, C... OMIM:213200
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pan... ORPHA:98908
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Chorea, Difficulty walking, Truncal a... ORPHA:369840
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly, Flexion contracture, Dystonia, Spasticity ORPHA:77260
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical hemiatrophy... ORPHA:33445
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Broad-based gait, Decreased number of peripheral myelinated ... ORPHA:477817
Friedreich Ataxia
Decreased motor nerve conduction velocity, Inability to walk, Optic atrophy, Dysmetria, Gait atax... ORPHA:95
Maternal Uniparental Disomy Of Chromosome 4
Impaired vibratory sensation, Abetalipoproteinemia, Elevated circulating creatine kinase concentr... ORPHA:96180
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... ORPHA:485421
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Facial diplegia, Difficulty walking ORPHA:329478
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Onychauxis, Precocious puberty, Insulin-resistant diabet... OMIM:262190
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Dysmetria, Limb atax... OMIM:164400
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva... OMIM:618620
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:540
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Decreased testicular size OMIM:614962
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... OMIM:619028
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Tremor, Synophrys, Wide penis, Hypertonia,... ORPHA:3455
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Athetosis, L... OMIM:271245
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait OMIM:618387
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... OMIM:608799
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Ataxia-Telangiectasia
Elevated hepatic transaminase, Hypopigmentation of hair, Diabetes mellitus, Ataxia, Abnormal test... ORPHA:100
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619386
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Cardiomegaly, Impaired distal proprioception, Impaired p... ORPHA:14
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypoglycemia, Insulin resistance, Low anterior hairline, Low posterior... ORPHA:73272
Chylomicron Retention Disease
Impaired vibratory sensation, Failure to thrive, Diarrhea, Malnutrition, Decreased LDL cholestero... OMIM:246700
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Ataxia, Tremor, Hemiparesis, Abnormality of the liver, Spasticity... OMIM:614307
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Whipple Disease
Gastrointestinal hemorrhage, Hyponatremia, Hepatomegaly, Ataxia, Anorexia, Abdominal pain, Cachex... ORPHA:3452
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Steppage gait, Sensory axon... OMIM:256850
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Elevated tissue non-specific alkaline... ORPHA:785
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... OMIM:212140
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... OMIM:607765
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis, Ataxia OMIM:614116
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellula... OMIM:612016
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cram... OMIM:128100
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... OMIM:613280
Infantile Neuroaxonal Dystrophy
Peripheral axonal neuropathy, Ataxia, Flexion contracture, Optic atrophy, Unsteady gait, Gait dis... ORPHA:35069
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Macroorchidism, Hypercholesterole... ORPHA:90674
Friedreich Ataxia
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Decreased sensory nerve conduction velocity, Dec... OMIM:229300
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Limb joint contracture, Flexion contracture, CNS hypom... OMIM:618186
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Abdominal colic, Diabetes mellitus, Liver abscess, Cholangitis, Ov... ORPHA:69663
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidem... OMIM:232200
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Abnormal myelination ORPHA:401830
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Microvesicular hepatic steatosis, Chorea, Cerebral atrophy, Opisthotonus, Myo... OMIM:616672
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Elevated circulating p... OMIM:277440
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Dystonia, Ataxia, Elevated circulating creatine kinase concentration... ORPHA:64753
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Flexion contracture of finger, Decreas... ORPHA:466768
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Ataxia, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to t... OMIM:266510
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Very long chain fatty acid accumulation, Ataxia, Tremor, Unsteady gait, Dysme... OMIM:614867
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Griscelli Syndrome Type 1
Ataxia, Hyperlipidemia, White hair, Premature graying of hair, Hypertonia ORPHA:79476
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dystonia, Hypogonadotropic hypogonadism, Ataxia, Postural tremor, Tremor, Bab... OMIM:607694
Liver Disease, Severe Congenital
Dry hair, Dilatation of the ventricular cavity, Cardiomegaly, Biliary hyperplasia, Vomiting, Hypo... OMIM:619991
Autosomal Recessive Spastic Paraplegia Type 67
Limb tremor, Abnormal myelination ORPHA:401820
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Hepatic steatosis OMIM:615119
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... OMIM:176270
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di... ORPHA:98764
Tangier Disease
Accelerated atherosclerosis, Peripheral axonal neuropathy, Hypertriglyceridemia, Carotid artery s... ORPHA:31150
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Abnormal myelination ORPHA:401835
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, V... ORPHA:470
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c... ORPHA:228360
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Fasciculations, Brain atrophy, Hepatic steatosis, U... ORPHA:52430
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Polyembryoma
Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Abdominal mass, ... ORPHA:180229
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Abnormal CNS myelination, Optic atrophy, Ataxia OMIM:610651
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic... OMIM:251880
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Ataxia, Feed... OMIM:246900
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Onion bulb formation OMIM:614487
Potocki-Lupski Syndrome
Small for gestational age, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Gastroesop... OMIM:610883
Bloom Syndrome
Male infertility, Diabetes mellitus, Sparse eyelashes, Small for gestational age, Poor appetite, ... ORPHA:125
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Hypertonia, Hypoplasia of the thymus, Intention tremor, Absent eyebrow, Alop... OMIM:264090
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Feeding difficulties, Glucose intolerance, Abnormal autonomic nervous ... ORPHA:369873
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosis, Dystonia OMIM:612126
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... OMIM:615237
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Scarring, Hepatocellular carci... ORPHA:101330
Laron Syndrome
Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Hypohidrosis, Truncal obe... ORPHA:633
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Insulin-resistant diabetes mellitus, Chorea, Diffi... ORPHA:401768
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... ORPHA:77293
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration, Brachial plexus neuropathy OMIM:162100
4H Leukodystrophy
Cerebellar atrophy, Dystonia, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, D... ORPHA:289494
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties in infan... OMIM:613070
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Multiple lipomas, Gait ... ORPHA:765
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal circulating enzyme concentration or activity, Abdominal pain, Abdominal diste... ORPHA:103907
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Premature ovarian insufficiency, Po... OMIM:300623
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait a... OMIM:614831
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Tip-toe gait, Ataxia, Spastic gait OMIM:604360
Gitelman Syndrome
Maternal diabetes, Hyperhidrosis, Glucose intolerance, Hypocalcemia, Hashimoto thyroiditis, Abdom... ORPHA:358
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating alpha-fe... OMIM:616267
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia OMIM:614863
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Atax... OMIM:616263
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia OMIM:617106
3-Methylglutaconic Aciduria, Type V
Ataxia, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic ste... OMIM:610198
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Xp21 Deletion Syndrome
Nausea and vomiting, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating cr... ORPHA:261476
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Progressive gait ataxia, Optic atrophy, Leukodystrophy ORPHA:309263
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abdominal pain, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnorma... ORPHA:567548
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618234
Congenital Tufting Enteropathy
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Optic disc coloboma, Weight loss, Cho... ORPHA:92050
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... OMIM:300894
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Crigler-Najjar Syndrome Type 1
Tremor, Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice ORPHA:79234
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ataxia, Thick hair, Splenomegaly,... OMIM:613489
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Portal hypert... OMIM:619487
Autosomal Recessive Spastic Paraplegia Type 55
Optic neuropathy, Optic atrophy, Arthrogryposis multiplex congenita, Decreased sensory nerve cond... ORPHA:320375
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Nail dystrophy, Small ... OMIM:610644
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Flexion contracture, Babinski sign, Dysmetria, Gait ataxia, H... OMIM:616505
Bardet-Biedl Syndrome 19
Hepatic steatosis, Hypogonadism, Obesity OMIM:615996
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca... OMIM:232220
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Gastrointestinal dysmotility, Hypertonia,... OMIM:270400
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Ataxia, Thick hair, Elevated circulating creatine kinase concentration, Tremor, ... OMIM:617675
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Painless fractures due to injury, Abnormal autonomic nervous ... OMIM:243000
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha... ORPHA:2394
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hyperammonemia, Hyperinsulinemic hy... ORPHA:35878
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Bardet-Biedl Syndrome 1
Diabetes mellitus, Ataxia, Aganglionic megacolon, Nephrogenic diabetes insipidus, Insulin resista... OMIM:209900
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo... OMIM:235200
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... ORPHA:139485
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Type II dia... ORPHA:1133
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Cerebellar atrophy, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, ... ORPHA:369837
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Isochromosomy Yq
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size ORPHA:98798
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Cryptorchidism, Hypertonia, Gait disturbance, Type I diabetes mellitus, Cerebral cortical... ORPHA:1192
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Difficulty walking... OMIM:159950
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina... ORPHA:254930
Free Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive in infancy, Ataxia, Splenomegaly, Abnormal pyramidal sign, Atheto... ORPHA:834
Acute Intermittent Porphyria
Nausea and vomiting, Hyponatremia, Abnormal circulating enzyme concentration or activity, Somatic... ORPHA:79276
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Increased circulating ... ORPHA:158048
Vipoma
Anorexia, Poor appetite, Secretory diarrhea, Hepatomegaly, Follicular thyroid carcinoma, Episodic... ORPHA:97282
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Cholecystitis, Increased serum l... ORPHA:778
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar atax... ORPHA:254881
Alagille Syndrome 1
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,... OMIM:118450
Ataxia With Vitamin E Deficiency
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... ORPHA:96
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance, Intention tremor OMIM:619322
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Dysmetria,... ORPHA:1170
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Abnormal circul... ORPHA:314478
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Inability to walk, Flexion contracture, Optic atrophy OMIM:615663
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unste... OMIM:616795
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating NT-proBNP concentration, Gastrop... ORPHA:85443
Microtriplication 11Q24.1
Speech apraxia, Hyperlipidemia, Synophrys, Obesity, Hyperkinetic movements, Long eyelashes, Thick... ORPHA:289522
Griscelli Syndrome Type 2
Nausea and vomiting, Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Hyperlipidemia, Jaundi... ORPHA:79477
Scheie Syndrome
Abnormal nerve conduction velocity, Limitation of joint mobility, Joint stiffness ORPHA:93474
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Leukodystrophy, Diff... ORPHA:309271
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Lower limb spasticity, Dystonia, Ataxia, Bilateral cryptorchidism,... ORPHA:66634
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Elevated circulating p... OMIM:264700
Methanol Poisoning
Cerebral hemorrhage, Abdominal pain, Hyperlipidemia, Diarrhea, Inflammatory arteriopathy, Intracr... ORPHA:31825
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Hypo... OMIM:600649
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Osteomyelitis OMIM:613640
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Spinocerebellar Ataxia, Autosomal Recessive 20
Cerebellar atrophy, Hepatomegaly, Ataxia, Splenomegaly, Inability to walk, Babinski sign, Camptod... OMIM:616354
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Foot joint contracture, Facial palsy, Ataxia, Achilles... ORPHA:456312
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Achondrogenesis, Type Ib
Umbilical hernia, Inguinal hernia, Stillbirth, Abdominal distention OMIM:600972
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... ORPHA:97283
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Glucose intolerance... ORPHA:99413
Mosaic Monosomy X
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Glucose intolerance... ORPHA:99228
Monosomy X
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Glucose intolerance... ORPHA:99226
Turner Syndrome
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Glucose intolerance... ORPHA:881
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Peripheral axona... OMIM:615673
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Peripheral arterial stenosis, ... ORPHA:90041
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Hyperthyroidism, Thick hair, Tremor, Primary amen... ORPHA:502423
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Cerebral atrophy, G... OMIM:618877
Athyreosis
Thyroid agenesis, Abdominal distention, Feeding difficulties, Constipation, Hypothyroidism ORPHA:95713
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... ORPHA:97278
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... OMIM:618549
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipidemia, Synophrys, Ob... ORPHA:254346
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait ataxia, Axonal loss, A... OMIM:614575
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Placental Insufficiency
Insulin resistance, Cerebral palsy, Small for gestational age ORPHA:439167
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Ataxia OMIM:275630
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Inguinal hernia, Hypoglycemia, Elbow contracture, Rigidity, Abdominal distention, Feeding difficu... OMIM:620275
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressiv... ORPHA:845
Achondrogenesis Type 1A
Umbilical hernia, Femoral hernia, Abdominal distention ORPHA:93299
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Gastroesophageal reflux, Hypoalbumi... OMIM:619534
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cerebral atrophy, ... OMIM:610333
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Pancreatitis, Episodic abdominal pain, Hepatosplenomegaly... OMIM:238600
Peho Syndrome
Optic atrophy, Peripheral dysmyelination, Hypsarrhythmia OMIM:260565
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Decreased methionine synthase activit... OMIM:614857
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Orthostatic hypotension, Portal hypertension, Abnormali... ORPHA:186
9Q31.1Q31.3 Microdeletion Syndrome
Thick hair, Highly arched eyebrow, Overweight, Type II diabetes mellitus, Hypercholesterolemia ORPHA:401923
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Hypoglycemia, Spastic tetraparesis, Cardiomegaly, Poor coordination, Sp... ORPHA:391428
Anterior Cutaneous Nerve Entrapment Syndrome
Inguinal hernia, Somatic sensory dysfunction, Anorexia, Abdominal pain, Abdominal distention, Hyp... ORPHA:51890
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... ORPHA:2089
Atypical Rett Syndrome
Dystonia, Involuntary movements, Tremor, Inability to walk, Limb myoclonus, Gait ataxia, Pill-rol... ORPHA:3095
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Cere... ORPHA:442835
48,Xxyy Syndrome
Inguinal hernia, Hypoplasia of penis, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... ORPHA:10
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... OMIM:602390
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive ORPHA:477673
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Premature coronary artery atherosc... ORPHA:140905
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Spa... ORPHA:329284
Multiple Sulfatase Deficiency
CNS demyelination, Ataxia, Peripheral demyelination OMIM:272200
Gm1 Gangliosidosis
Tremor, Decreased beta-galactosidase activity, Gastroesophageal reflux, Decerebrate rigidity, Che... ORPHA:354
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hypogonadism, He... OMIM:613313
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Tremor, Gastrointestinal dysmotility, Chorea, Abnormal pyram... ORPHA:2131
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hemiplegia/hemiparesis, Transient hype... ORPHA:156
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Pheochromocytoma, Hepatome... ORPHA:97261
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Ataxia, Delayed peripheral myelination, Unsteady gait, Difficulty walking ORPHA:464282
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Silver-Russell Syndrome
Abnormality of male external genitalia, Failure to thrive in infancy, Hypospadias, Cachexia, Prec... ORPHA:813
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Elevated alkaline phosphatas... OMIM:615363
Combined Oxidative Phosphorylation Deficiency 54
Tremor, Optic disc pallor, Hyperglycemia OMIM:619737
Microcephaly, Amish Type
Hepatomegaly, Flexion contracture, Myoclonus, Failure to thrive, Limb hypertonia OMIM:607196
Juvenile Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Lower limb spasticity, Ataxia, Dysmetria, Hepatosplenomegaly, Myoc... ORPHA:93399
Fucosidosis
Hepatomegaly, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Abnormal pyramidal sign,... ORPHA:349
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... OMIM:312080
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,... ORPHA:99027
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Failure to thrive, Ataxia, Poor appetite, Tremor, Splenomegaly, Diarrhea, Paronychi... OMIM:201100
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Necrotizing enterocolitis, Hypertriglyceridemia, Small for gestational age, Elevate... OMIM:619573
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochr... ORPHA:653
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation OMIM:619405
Neuhauser Syndrome
Ataxia, Poor coordination, Low anterior hairline, Primary hypothyroidism, Dysphagia, Hypercholest... OMIM:249310
Aceruloplasminemia
Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Involuntary movements, Dystonia, Tremor, Ri... ORPHA:48818
Hereditary Fructose Intolerance
Hepatomegaly, Reduced circulating aldolase concentration, Abdominal pain, Reactive hypoglycemia, ... ORPHA:469
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:201450
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Gait disturbance, Decreased ... ORPHA:436271
Gonadoblastoma
Gonadal dysgenesis with female appearance, male, Abdominal pain, Abdominal distention, Hirsutism,... ORPHA:206484
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... OMIM:614921
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl... OMIM:261750
Qazi-Markouizos Syndrome
Torticollis, Abdominal distention, Cryptorchidism, Chronic constipation, Small nail ORPHA:3010
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral cryptorchidism, Axonal degeneration, Scissor gait, Optic atrophy, Cerebral atro... OMIM:278800
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Elevated circulating C-reactive protein concentration, A... ORPHA:90051
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Diarrhea, Hypoplasia of the t... OMIM:619313
Rotor Syndrome
Jaundice, Storage in hepatocytes, Intermittent jaundice ORPHA:3111
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Spasticity, Choreoathetosis, Dystonia, Joint contr... OMIM:617664
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl... OMIM:307030
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Sialuria
Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Low posterior hairline, Poor fine motor c... OMIM:269921
Acrocephalopolydactyly
Protuberant abdomen, Hepatosplenomegaly ORPHA:221054
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Pyruvate Carboxylase Deficiency
Hepatomegaly, Athetosis, Hypoglycemia, Clonus OMIM:266150
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diar... ORPHA:391673
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Hepatic failure, Cho... ORPHA:79303
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Dysmetria, Dysdiadochokinesis, Difficulty walking, Peripheral demyelination ORPHA:171629
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... OMIM:618183
Glucose/Galactose Malabsorption
Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Glycosuria, Failure to thrive, ... OMIM:606824
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... ORPHA:97280
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Obesity, Shuffling... ORPHA:3077
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Flexion contracture, Unsteady gait, Ce... ORPHA:17
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude, Osteoarthritis, Joint hypermobility OMIM:620080
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype... OMIM:617156
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Ataxia OMIM:608703
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Cockayne Syndrome
Dry hair, Feeding difficulties in infancy, Congenital contracture, Progressive gait ataxia, Gastr... ORPHA:191
Cockayne Syndrome Type 2
Hepatomegaly, Lower limb spasticity, Ataxia, Scarring, Cryptorchidism, Flexion contracture, Gait ... ORPHA:90322
Monosomy 13Q34
Metrorrhagia, Hypercalcemia, Insulin resistance, Obesity, Hematochezia, Horizontal eyebrow, Hepat... ORPHA:96168
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Neoplasm of the pancreas, Cach... ORPHA:83469
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:99949
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Flexion contracture, Generalized lipodystrophy, Panniculitis OMIM:619183
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis... OMIM:201475
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Inguinal hernia, Brittle hair, Increased iduronate sulfatase level, Increased serum... OMIM:252500
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Small Bowel Atresia
Abnormal vascular morphology, Abdominal distention, Feeding difficulties, Vomiting, Failure to th... ORPHA:1201
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Gait disturbance, Flexion contracture, Small for gestational age, Protuberant abdomen OMIM:613330
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Abdominal distention, Secretory diarrhea, Hypochloremia, Hyperactive renin-angioten... OMIM:214700
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Slurred speech, Dysmetria, Myoclonus, ... OMIM:256550
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... OMIM:617093
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Absent brainstem auditory responses, Lower limb spas... ORPHA:90321
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, Optic atrophy, Hyperam... ORPHA:79312
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... OMIM:612438
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Mohr-Tranebjaerg Syndrome
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm... ORPHA:52368
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Chorea, Hepatomegaly, Micronodular cirrhosis, Corneal scarring,... ORPHA:404454
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal p... OMIM:614298
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Tongue fasciculations, Decreased liver function, Myoclonus, Hepatic steatosis, Cere... OMIM:614922
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Hypospadias, Large for gestational age, Cryptorchidism, Gait disturbance, Protuberant... ORPHA:457485
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Primary Effusion Lymphoma
Abnormal peritoneum morphology, Abdominal distention, Abdominal pain ORPHA:48686
Cockayne Syndrome A
Hip contracture, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, De... OMIM:216400
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti... OMIM:231530
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Absent eyebrow, Abdominal distention, Hepatitis, Bloody diarrhea, Hypoplasia of the ... ORPHA:436252
Hypocalcemic Vitamin D-Dependent Rickets
Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Elevated circulating parathyroid ... ORPHA:289157
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Gaucher Disease, Type Iii
Hepatomegaly, Ataxia, Splenomegaly, Myoclonus, Decreased body weight, Spastic paraparesis OMIM:231000
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Vomiting, Ischemic stroke, Hyperglycemia, Left ventricular hypertrophy, Hype... ORPHA:90065
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Thick eyebrow, Splenomegaly, Flexion contracture, Coarse hair, Neurodegeneration, R... OMIM:253220
Trichohepatoneurodevelopmental Syndrome
Synophrys, Coarse hair, Gastroesophageal reflux, Thoracic hypertrichosis, Hypothyroidism, Hepatom... OMIM:618268
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy ORPHA:2821
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal distention, Spasti... OMIM:619423
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Consti... ORPHA:168816
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu... OMIM:300972
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysme... OMIM:614381
Pediatric Systemic Lupus Erythematosus
Alopecia, Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Hemiplegia, Increased circula... ORPHA:93552
Hereditary Spherocytosis
Hepatomegaly, Ataxia, Abdominal pain, Abdominal distention, Splenomegaly, Jaundice, Hyperbilirubi... ORPHA:822
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Hepatic fibros... ORPHA:541423
Mucopolysaccharidosis Type 3
Cardiomegaly, Synophrys, Flexion contracture, Abnormal pyramidal sign, Coarse hair, Hypertonia, L... ORPHA:581
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Limb pain, Tip-toe gait, Gait disturbance ORPHA:512
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Poor appetite, Feeding difficulties in infancy, Cerebellar hemorrhage... OMIM:606054
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Large for gestational age, Protuberant abdomen, Umbilical hernia, Enlarged kidney OMIM:618272
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, P... OMIM:203700
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Hypoglycemia, Tremor, Spastic tetraplegia, ... OMIM:617710
Galactosemia I
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... OMIM:230400
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Gastrojejunal tube feeding in infancy, Gastrointestinal dysmotility, Axonal deg... ORPHA:478029
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Cholestasis, Cerebral atrophy, Porta... OMIM:614300
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Babinski sign, Cholestasis, Tip-toe gait, Left ... ORPHA:746
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Ataxia, Cardiomegaly, Babinski sign, Unsteady gait, Limb ataxia, Gait ataxia,... OMIM:619259
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Limb ataxia, Gait ataxia... OMIM:606002
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Scarring alop... ORPHA:59303
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomegaly, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal ... ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Feeding difficulties, D... OMIM:616811
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Cryptorchidism, Tetralogy of Fallot, Abnormal aortic morphology,... ORPHA:1166
Schimke Immunoosseous Dysplasia
Waddling gait, Small for gestational age, Transient ischemic attack, Bilateral cryptorchidism, El... OMIM:242900
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... OMIM:619518
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Elevated circulating creatine ki... OMIM:614576
Trichohepatoenteric Syndrome 2
Hepatomegaly, Brittle hair, Small for gestational age, Decreased serum iron, Diarrhea, Chronic di... OMIM:614602
Hutchinson-Gilford Progeria Syndrome
Intracranial hemorrhage, Dystrophic fingernails, Absent eyebrow, Insulin resistance, Absence of s... ORPHA:740
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Cockayne Syndrome B
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve con... OMIM:133540
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Abdo... ORPHA:567983
Peroxisome Biogenesis Disorder 5A (Zellweger)
Feeding difficulties in infancy, Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferas... OMIM:614866
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Spastic tetraparesis... OMIM:614924
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis, Hypoketotic hypo... ORPHA:228305
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Spastic tetraparesis, Flexion contractur... OMIM:614098
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ... OMIM:608836
Mirizzi Syndrome
Elevated hepatic transaminase, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, J... ORPHA:521219
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Ataxia, Clonus, Premature thelarche, Hypoglycemia, Poor coordinati... OMIM:616878
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Vomiting, Nausea, Hepatomegaly, Alopecia, Papil... ORPHA:3385
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Neurodegenerati... ORPHA:79244
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Feeding difficulties in infancy, Sparse eyebrow, Coarctation of aorta, Hypopla... OMIM:244450
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Glucose intolerance, Abn... ORPHA:254892
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... ORPHA:103910
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... OMIM:615842
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:329178
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting OMIM:619445
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Inability to walk, Optic atrophy, Tip-toe gait, ... ORPHA:99956
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia OMIM:212138
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradyk... OMIM:137440
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, GM2-ganglioside accumulati... OMIM:272750
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Hypoglycemia, Diarrhea, Insulin resistance, Elevated circulating creatin... ORPHA:230
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Portal hypertension, Rigidity, Splenomegal... ORPHA:309854
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Failure to thrive, Hepatic steatosis, Pancreatitis OMIM:236200
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Ataxia, Portal hypertension, Tremor... ORPHA:1454
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... OMIM:618060
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Type II ... OMIM:616860
East Syndrome
Peripheral axonal neuropathy, Ataxia, Inability to walk, Peripheral hypomyelination, Difficulty w... ORPHA:199343
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Prominent superficial veins, Lipoatrophy, Sparse eyelashes, Decrease... OMIM:614008
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Meckel Syndrome, Type 8
Ambiguous genitalia, Abdominal distention, Enlarged kidney OMIM:613885
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Primary adrenal insufficiency, Slurred speech, L... OMIM:300100
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Diarrhe... OMIM:235555
Hurler Syndrome
Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Neurodegene... OMIM:607014
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Episodic abdomi... ORPHA:100086
Spastic Paraplegia 9B, Autosomal Recessive
Corpus callosum atrophy, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar par... OMIM:616586
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia, Opisthotonus OMIM:210200
Xeroderma Pigmentosum, Complementation Group F
Ataxia, Tremor, Flexion contracture, Brain atrophy, Decreased body weight OMIM:278760
Sitosterolemia 1
Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concentration, Carotid a... OMIM:210250
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Ataxia, Gait disturbance OMIM:214500
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... OMIM:615630
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... ORPHA:453533
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Joint laxity, Broad-based gait, Osteomyelitis, Ataxia, Delayed myelination, Neurofibroma, Multifo... OMIM:619475
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention, Difficulty walking OMIM:619345
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Somatic sensory dysfunction, Transient ischemic attack, Cholangiti... ORPHA:3260
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism,... OMIM:620327
Glutaric Acidemia I
Choreoathetosis, Symmetrical progressive peripheral demyelination, Delayed myelination OMIM:231670
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Nephrogenic diabetes insipidus... OMIM:613404
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Poor appetite, ... ORPHA:96182
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Cerebral atrophy, Dysmetria, Gait ataxia, Bradykinesia... OMIM:610217
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spast... ORPHA:529665
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Inability to walk, Flexion contracture, Macrovesicular hepatic steato... OMIM:617303
Holoprosencephaly
Hypoplasia of penis, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Abnormalit... ORPHA:2162
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Ataxia, Akinesia, Tremor, Inability t... ORPHA:86309
Aicardi-Goutières Syndrome
Multiple joint contractures, Cardiomegaly, Tremor, Abnormal pyramidal sign, Hypertonia, Micropeni... ORPHA:51
Developmental And Epileptic Encephalopathy 95
Cerebellar atrophy, Hepatomegaly, Inguinal hernia, Multiple joint contractures, Ataxia, Highly ar... OMIM:618143
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati... ORPHA:26791
Bronchial Neuroendocrine Tumor
Hepatomegaly, Elevated circulating growth hormone concentration, Anorexia, Poor appetite, Bowel u... ORPHA:97287
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Diarr... OMIM:600955
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating creatine kinase concentration, An... ORPHA:732
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Papilledema, Hypercholesterolemia, Bilateral cryptorchidism, Obesi... OMIM:619471
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Dystonia, Ataxia, Fetal ascites, Splenomegaly, Gait... OMIM:257220
Wolcott-Rallison Syndrome
Acute hepatic failure, Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Neonatal insuli... ORPHA:1667
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Ataxia, Abnormal eyelash morphology, Silver-gray hair,... ORPHA:381
Pmm2-Cdg
Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Intr... ORPHA:79318
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction OMIM:193250
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Acute demyelinating polyneuropat... ORPHA:79138
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... ORPHA:26793
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Flexion cont... ORPHA:367
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Japanese Encephalitis
Decreased motor nerve conduction velocity, Stiff neck, Facial palsy, Paucity of anterior horn mot... ORPHA:79139
Adrenomyodystrophy
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency ORPHA:977
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Peripheral demyelination, Ataxia, Severe demyelination of the white matter ORPHA:79282
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Abnormal myelination ORPHA:352682
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... OMIM:615486
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia, Neuronal loss in c... ORPHA:683
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, I... OMIM:215600
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Osteopenia, Delayed skeletal maturation, Cerebral dysmyelina... OMIM:261515
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Unsteady gait, Neurodegeneration, Jo... OMIM:615919
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosi... ORPHA:348
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrove... OMIM:618329
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Cholangitis, Hypoglycemia, Microvesicu... OMIM:124000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Renal artery aneurysm, Ataxia, Elevated circulating ... OMIM:615688
Amish Nemaline Myopathy
Tremor, Hip contracture, Shoulder flexion contracture ORPHA:98902
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypothyroidism, Ataxia ORPHA:2479
Cog5-Cdg
Cerebellar atrophy, Hepatomegaly, Diffuse cerebral atrophy, Elevated hepatic transaminase, Campto... ORPHA:263487
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Splenomegaly, Jaundice, Malnutrition, Steatorrhea, Failure to thrive, Exocrine panc... OMIM:612714
Cranioectodermal Dysplasia 1
Hepatomegaly, Inguinal hernia, Slow-growing hair, Short nail, Malformation of the hepatic ductal ... OMIM:218330
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Ascites, Hypoalbuminemia OMIM:603278
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Panniculitis, Weight loss ORPHA:33577
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Elevated ... ORPHA:565612
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Decreased fertility, Testicular atrophy, Fasciculations OMIM:313200
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Ataxia,... ORPHA:20
Dubowitz Syndrome
Sparse scalp hair, Inguinal hernia, Hypospadias, Feeding difficulties in infancy, Cryptorchidism,... OMIM:223370
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Splenomegaly, Hepatomegaly, Neurodegeneration OMIM:620210
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Ataxia, Glycosuria, Decreased liver function, Increased intramyocellular lipid drop... OMIM:220110
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Mildly elevated creatine kinase ORPHA:681
Hyperlysinemia
Tremor, Dysmetria, Opisthotonus, Pulmonary artery hypoplasia, Gastroesophageal reflux, Vomiting, ... ORPHA:2203
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Hepatomegaly, Limb joint contracture, Ataxia, Postural tremor, Splenomegaly, ... OMIM:301072
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Reduced beta-hexosaminidase ... OMIM:268800
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Hypergonadotropic hypogonadism, Ataxia, Tremor, Myo... OMIM:607426
Giant Cell Arteritis
Alopecia, Ataxia, Anorexia, Abdominal pain, Vasculitis, Optic atrophy, Weight loss, Hyperhidrosis... ORPHA:397
Ataxia-Telangiectasia
Diabetes mellitus, Female hypogonadism, Ataxia, Elevated circulating alpha-fetoprotein concentrat... OMIM:208900
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Microvesicular hepatic steatosis, Low anterior hairline, Dysmetria, Vomiting, Gliosis, Hy... OMIM:220111
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Gonadal calc... ORPHA:314473
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss, Ascites ORPHA:168811
Spondylocostal Dysostosis 1, Autosomal Recessive
Abdominal distention, Protuberant abdomen OMIM:277300
Transaldolase Deficiency
Hepatomegaly, Small for gestational age, Splenomegaly, Synophrys, Micronodular cirrhosis, Patent ... OMIM:606003
Familial Visceral Myopathy
Hyperparathyroidism, Aganglionic megacolon, Camptodactyly of finger, Abdominal distention, Abdomi... ORPHA:2604
Hereditary Sensory And Autonomic Neuropathy Type 5
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Ataxia, Myoclonus, Type I diabetes mellitus, Failure to thrive OMIM:560000
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Feeding difficulties in infancy, Abdominal distention, Patent duct... OMIM:300048
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction, Joint stiffness ORPHA:585
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Prominent superficial veins, Anomalous branches of internal carotid ... ORPHA:363705
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Neuronal loss in central ... OMIM:168600
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... ORPHA:309246
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Copper accumulation in liver, Cerebral atrophy, Myo... OMIM:614946
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries, Precocious puberty, Inability to walk, Cerebral atrophy, Hype... ORPHA:293181
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Hepatomegaly, Inguinal hernia, Corpus callosum atrophy, Splenomegaly, Babinsk... OMIM:248500
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Segmental peripheral demyelination/remyelination, Optic atrophy, Gait ataxia, Demyelinati... ORPHA:255210
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Dry hair, Splenomegaly, Inability to walk, White hair, Knee fle... ORPHA:576
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Gastrointestinal hemorrhage, Intestinal obstruction, Decreased HDL cholesterol concent... ORPHA:85450
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Inabil... OMIM:617988
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancr... ORPHA:309031
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Hypothyroidism, Female infertility, Goiter OMIM:617577
Molybdenum Cofactor Deficiency, Complementation Group B
Axonal loss, Peripheral demyelination OMIM:252160
Glucose-Galactose Malabsorption
Failure to thrive, Hypercalcemia, Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnu... ORPHA:35710
Diaphanospondylodysostosis
Inguinal hernia, Abnormal liver lobulation, Protuberant abdomen, Enlarged kidney, Hypoplastic fin... OMIM:608022
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Clonus, Feeding difficulties in infancy, Gastroesophageal ref... ORPHA:534
Molybdenum Cofactor Deficiency, Complementation Group A
Axonal loss, Peripheral demyelination OMIM:252150
Encephalocraniocutaneous Lipomatosis
Alopecia, Lipodystrophy, Paralysis, Abnormal eyelash morphology, Rigidity, Cerebral atrophy, Coar... ORPHA:2396
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Abdominal pain, Hypoesthesia, Diarrhea, Axonal degeneration, Vomiting OMIM:106100
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Tremor, Cryptorchidism, Jaundice, Flexion contracture, Hypertonia,... OMIM:608093
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomega... OMIM:610199
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Hepatomegaly, Lower limb spasticity, Spastic tetraparesis, Hypothyroidism, Sp... OMIM:615846
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome... ORPHA:30391
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Failure to thrive,... ORPHA:99901
Angelman Syndrome
Optic disc pallor, Broad-based gait, Precocious puberty in females, Ataxia, Gastrostomy tube feed... ORPHA:72
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Pyruvate Carboxylase Deficiency
Anorexia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Vomiting, Hyperglycemia, Basal gan... ORPHA:3008
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... OMIM:168605
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Ataxia, Cardiomegaly, Tremor, Diarrhea, Abnormal pyramidal sign, Li... OMIM:105210
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... ORPHA:64739
Mcleod Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:300842
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Clonus, Abnormal pyramidal sign, Abnormal circulating citrulline concentration, Impaired vibrator... ORPHA:415
Cap Polyposis
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Constipation ORPHA:160148
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Abdominal mass, Elevated circulating C-reactive prot... ORPHA:160
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... ORPHA:231222
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Anomalous pulmonary venous return, Persistent lef... ORPHA:244
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-toe gait, Gait disturbance ORPHA:83629
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Thyroid agenesis, Feeding difficulties in infancy, Abd... OMIM:218700
Short-Rib Thoracic Dysplasia 12
Omphalocele, Hepatomegaly, Inguinal hernia, Ambiguous genitalia, Splenomegaly, Patent ductus arte... OMIM:269860
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Vomiting, Hepatic fibrosis, Intrahepatic bile duct dil... OMIM:301068
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Abdominal distention, Chronic diarrhea, Cholestasis, Hemiparesis, Gastroesophageal ... OMIM:620233
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Impaired vibratory sensation, Abnormal circulating enzyme concentration or activity, Inguinal her... ORPHA:1900
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Biotinidase Deficiency
Hepatomegaly, Alopecia, Diffuse cerebral atrophy, Ataxia, Feeding difficulties in infancy, Spleno... OMIM:253260
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He... ORPHA:699
Niemann-Pick Disease Type C
Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Abnormality of the liver, Progressive gai... ORPHA:646
Epidermolysis Bullosa Simplex With Pyloric Atresia
Elevated circulating creatine kinase concentration, Scarring alopecia of scalp, Abdominal distent... ORPHA:158684
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Hypoplasia of penis, Femoral hernia, Highly arched eyebrow, Cryptorchidism, Syno... ORPHA:96147
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia OMIM:611126
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level OMIM:615954
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination, EEG with multifocal slow activity ORPHA:289266
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Vaginal neoplasm, Reduced C-peptide le... ORPHA:2126
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Fg Syndrome Type 1
Inguinal hernia, Broad-based gait, Progressive flexion contractures, Optic nerve hypoplasia, Hypo... ORPHA:93932
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Ataxia, Tremor, Cerebral atrophy, Hypothyroidism, Testicul... OMIM:222300
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... OMIM:612310
Argininosuccinic Aciduria
Hepatomegaly, Dry hair, Brittle hair, Ataxia, Elevated circulating aspartate aminotransferase con... OMIM:207900
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Hepatic steatosis, Inguinal hernia, Small for gestational age, Hyp... OMIM:613658
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Inguinal hernia, Protuberant abdomen OMIM:184250
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Thyroid Hypoplasia
Abdominal distention, Jaundice, Constipation, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Mucopolysaccharidosis Type 2
Papilledema, Decreased nerve conduction velocity, Limitation of joint mobility, Optic atrophy, Ab... ORPHA:580
Gaucher Disease, Type Ii
Hepatomegaly, Rigidity, Splenomegaly, Cerebral atrophy, Feeding difficulties, Hypertonia, Gastroe... OMIM:230900
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Small for gestational age, Abnormal corona... ORPHA:860
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Macroorchidism, Male infertility, Oligozoospermia ORPHA:3000
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Gastroesophageal reflux, Hypothyroidism, Alopeci... OMIM:619472
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypogonadotropic hypogonadis... ORPHA:478
Supranuclear Palsy, Progressive, 1
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... OMIM:601104
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Glycogen Storage Disease Due To Acid Maltase Deficiency
Elevated circulating creatine kinase concentration, Cardiomegaly, Feeding difficulties in infancy... ORPHA:365
Dend Syndrome
Hyperglycemia, Hypsarrhythmia ORPHA:79134
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Hepatomegaly, Abdominal colic, Elevated hepatic transaminase, Functional int... ORPHA:100079
Colonic Atresia
Omphalocele, Abdominal distention, Abnormal mesentery morphology, Abdominal situs inversus ORPHA:1198
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... ORPHA:293987
Tsh-Secreting Pituitary Adenoma
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, ... ORPHA:91347
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Hepatomegaly, Lower limb spasticity, Large for gestational age, Microvesicular h... OMIM:300868
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Cole Disease
Hyperglycemia OMIM:615522
Congenital Disorder Of Deglycosylation 1
Oral-pharyngeal dysphagia, Chorea, Dysmetria, Hyperhidrosis, Hepatic fibrosis, Gliosis, Hepatomeg... OMIM:615273
Cystic Echinococcosis
Abdominal symptom, Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, H... ORPHA:400
Dyggve-Melchior-Clausen Disease
Abnormal circulating enzyme concentration or activity, Spastic tetraparesis, Inability to walk, D... ORPHA:239
Thyroid Ectopia
Abnormality of the thyroid gland, Abdominal distention, Jaundice, Constipation, Ectopic thyroid, ... ORPHA:95712
Cockayne Syndrome Type 3
Dry hair, Flexion contracture, Premature graying of hair, Gastroesophageal reflux, Intention trem... ORPHA:90324
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Trichohepatoenteric Syndrome 1
Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Intractable diarrhea, Hepatomegaly,... OMIM:222470
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Increased circulating lactate dehydrogenase concentration, Hypercholesterolemi... OMIM:309000
Syndromic Diarrhea
Brittle hair, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepat... ORPHA:84064
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Tetraplegia, Hepatocellular necrosi... OMIM:618278
Camurati-Engelmann Disease
Waddling gait, Hepatomegaly, Ataxia, Facial palsy, Anorexia, Cachexia, Feeding difficulties in in... ORPHA:1328
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurode... OMIM:618321
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Vomiting, Hepatic fibrosis, ... ORPHA:53035
Fibrochondrogenesis 1
Omphalocele, Hypoplastic toenails, Stillbirth, Protuberant abdomen, Camptodactyly, Joint contract... OMIM:228520
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Inguinal hernia, Gastroparesis, Small for gestational age, Ataxia, Hypospadias, Tremor, Cryptorch... OMIM:614052
Atelis Syndrome 2
Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormone concentration, Hyperin... OMIM:620185
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Papilledema, Premature thelarche, Coarctation of aorta, Polycystic ovaries, Type I d... ORPHA:371428
Poliomyelitis
Inability to walk, Stiff neck, Abnormal motor nerve conduction velocity ORPHA:2912
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Small for gestational age, Abdominal pain, Tremor, Abnormality of ... ORPHA:69665
Glutaryl-Coa Dehydrogenase Deficiency
Limb dystonia, Abnormal circulating enzyme concentration or activity, Pallidal degeneration, Dyst... ORPHA:25
Transaldolase Deficiency
Coarctation of aorta, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Abnormali... ORPHA:101028
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers, Postural hypotension with compensat... OMIM:256800
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Argininemia
Cerebellar atrophy, Hepatomegaly, Micronodular cirrhosis, Cholestasis, Progressive spastic quadri... OMIM:207800
Secondary Intestinal Lymphangiectasia
Abdominal colic, Intestinal obstruction, Reduced circulating transferrin concentration, Chronic d... ORPHA:90363
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Gait ataxia, Sparse hair, Hepatomegaly, Elevated circulating aspartate... OMIM:280000
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence, Neurodegeneration OMIM:146500
Choreoacanthocytosis
Caudate atrophy, Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Limb dys... ORPHA:2388
Joubert Syndrome 8
Hepatomegaly, Ataxia, Obesity, Hypertonia, Prolonged neonatal jaundice, Oculomotor apraxia OMIM:612291
Lowry-Maclean Syndrome
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Bilateral cryptorchidism, Abnormal... ORPHA:2409
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... OMIM:619525
Bloom Syndrome
Small for gestational age, Decreased fertility in females, Cryptorchidism, Azoospermia, Type II d... OMIM:210900
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Tenorio Syndrome
Cerebral palsy, Hypoglycemia, Clumsiness, Gastroesophageal reflux, Gait disturbance, Cerebral cor... OMIM:616260
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Mildly elevated creatine kinase, Tremor, Abnormality of peripheral ne... ORPHA:79102
Schneckenbecken Dysplasia
Umbilical hernia, Stillbirth, Protuberant abdomen OMIM:269250
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Fetal ascites, Ascending aorta hypoplasia,... OMIM:619503
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata... OMIM:618056
Aapoaiv Amyloidosis
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration, Coronary artery... ORPHA:439232
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Neurodegene... OMIM:309900
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Tremor, Babinski sign, Glucose intolerance, Glycosuria, Hypertonia, Cirrhosis, Brain atrophy, Spa... OMIM:616539
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Jaundi... ORPHA:677
Visceral Myopathy, Familial, With External Ophthalmoplegia
Gastroparesis, Abdominal pain, Abdominal distention, Malnutrition, Vascular dilatation OMIM:277320
Letterer-Siwe Disease
Abdominal distention, Jaundice, Hepatosplenomegaly OMIM:246400
Kleefstra Syndrome
Hypoplasia of penis, Hypospadias, Bowel incontinence, Highly arched eyebrow, Supernumerary nipple... ORPHA:261494
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge... OMIM:557000
Hurler Syndrome
Abnormal nerve conduction velocity, Limitation of joint mobility, Camptodactyly of finger ORPHA:93473
Spondyloepimetaphyseal Dysplasia, Shohat Type
Splenomegaly, Abdominal distention, Hepatomegaly OMIM:602557
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Triosephosphate Isomerase Deficiency
Dystonia, Tremor, Splenomegaly, Jaundice, Unsteady gait, Cerebral atrophy, Cholecystitis, Prolong... OMIM:615512
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Bowel urgency, Abdominal pain, Lack of bow... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Bowel urgency, Abdominal pain, Lack of bow... ORPHA:100082
2Q37 Microdeletion Syndrome
Sparse scalp hair, Highly arched eyebrow, Supernumerary nipple, Sparse eyebrow, Congenital diaphr... ORPHA:1001
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Abnormal CNS myelination, Steatorrhea ORPHA:440713
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Hyperlipidemia, Intracranial hemorrhage, Menorrhagia, Hyperuricemia ORPHA:35909
Meckel Syndrome 14
Abdominal distention, Hepatic fibrosis, Aplasia of the uterus, Protuberant abdomen, Ambiguous gen... OMIM:619879
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Appendicular spasticity, Inability to walk, Cryptorchidism, Cerebral atrophy, Coarctation of aort... OMIM:618494
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Feeding difficulties, Long eyelashes OMIM:615502
Inflammatory Skin And Bowel Disease, Neonatal, 2
Secretory diarrhea, Coarctation of aorta, Long eyelashes, Vomiting, Failure to thrive OMIM:616069
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Ataxia, Hyperuricemia ORPHA:3222
Alexander Disease
Nausea and vomiting, Diabetes mellitus, Ataxia, Facial palsy, Bowel incontinence, Clonus, Precoci... ORPHA:58
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... OMIM:619377
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention, Cachexia ORPHA:1876
Partial Androgen Insensitivity Syndrome
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... ORPHA:90797
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, In... OMIM:110100
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Coronary artery ather... OMIM:144010
Primary Sclerosing Cholangitis
Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated a... ORPHA:171
Gabriele-De Vries Syndrome
Waddling gait, Aortopulmonary collateral arteries, Sparse eyebrow, Cryptorchidism, Tremor, Feedin... OMIM:617557
8P23.1 Microdeletion Syndrome
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Pulmonary... ORPHA:251071
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Abnormal penis morphology, Vaginal dryness, Anorexia, Oral-pharyng... ORPHA:95455
Rubinstein-Taybi Syndrome 1
Premature thelarche, Feeding difficulties in infancy, Bilateral cryptorchidism, Flexion contractu... OMIM:180849
Platyspondylic Dysplasia, Torrance Type
Abdominal distention ORPHA:85166
Septopreoptic Holoprosencephaly
Precocious puberty, Coarctation of aorta, Dysphagia, Anterior hypopituitarism, Central diabetes i... ORPHA:280195
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Protuberant abdomen OMIM:617102
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Omphalocele, Hepatomegaly, Interphalangeal joint contracture of finger, External genital hypoplas... ORPHA:96334
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Hepatomegaly, Elevated hepatic transaminase, Anorexia, Poor appetite, Bowel ... ORPHA:100075
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Flexion contracture, Feeding difficulties, Small pituitary gland, Protuberant abdome... OMIM:619479
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation... OMIM:616026
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia... ORPHA:93111
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity ORPHA:803
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Hepatosplenomegaly ORPHA:93352
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Igg4-Related Aortitis
Intestinal obstruction, Thoracic aortic aneurysm, Elevated circulating C-reactive protein concent... ORPHA:449400
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Ataxia, Aganglionic megacolo... ORPHA:163746
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Nicolaides-Baraitser Syndrome
Absent eyebrow, Inguinal hernia, Dry hair, Sparse scalp hair, Failure to thrive, Cryptorchidism, ... OMIM:601358
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Failu... OMIM:229600
Fryns Syndrome
Omphalocele, Aganglionic megacolon, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism,... ORPHA:2059
Cerebral Visual Impairment
Cerebral palsy, Clumsiness, Central nervous system degeneration, Neurodegeneration, Oculomotor ap... ORPHA:447788
Scorpion Envenomation
Acute pancreatitis, Increased circulating NT-proBNP concentration, Ataxia, Elevated circulating a... ORPHA:466677
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Tyrosinemia, Type I
Acute hepatic failure, Paralytic ileus, Hypophosphatemic rickets, Hepatomegaly, Periodic paralysi... OMIM:276700
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Dysdiadochokinesis, Peripheral hypomyelination, Ataxia, Chronic axonal neuropathy OMIM:612780
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Hepatic steatosis, Decreased tes... OMIM:619321
Ciliary Dyskinesia, Primary, 18
Male infertility, Abdominal situs ambiguus, Immotile sperm OMIM:614874
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Diabetic Embryopathy
Abnormality of the pancreas, Cryptorchidism, Tetralogy of Fallot, Abnormal morphology of female i... ORPHA:1926
Homozygous Familial Hypercholesterolemia
Optic neuropathy, Precocious atherosclerosis, Abnormal internal carotid artery morphology, Hyperl... ORPHA:391665
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Optic nerve hypoplasia, Highly arched eyebrow, Feeding difficultie... OMIM:617506
Ogden Syndrome
Inguinal hernia, Torticollis, Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, ... OMIM:300855
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Coar... OMIM:617602
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Abdominal distention, Optic disc coloboma, Secretory diarrhea, Rectovaginal fistula OMIM:270420
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Nausea and vomiting, Hypoperistalsis, Abdominal distention, Cryptorchidism, Umbilica... ORPHA:2241
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia OMIM:609069
Thanatophoric Dysplasia, Type I
Neonatal death, Protuberant abdomen OMIM:187600
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Inguinal hernia, Aortic dissection, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomeg... ORPHA:91387
Fibrochondrogenesis 2
Protuberant abdomen OMIM:614524
Arima Syndrome
Hepatomegaly, Ataxia, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Arboleda-Tham Syndrome
Dystonia, Highly arched eyebrow, Bilateral cryptorchidism, Patent ductus arteriosus, Optic atroph... OMIM:616268
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm OMIM:613807
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Tremor, Chorea, Hyperhidrosis, Vomiting, Hypo... ORPHA:94093
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Hypophosphatemic rickets, Male hypogonadism, Hyponatremia, Hepatomegal... OMIM:219800
1P36 Deletion Syndrome
Hepatic steatosis, Camptodactyly of finger, Abnormality of the spleen, Hemiplegia/hemiparesis, Cr... ORPHA:1606
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Spasticity, Neuronal loss in central nervous system, Neurodegeneration OMIM:616239
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Small scrotum, Congenital diaphragmatic hernia, Highly arched eyebr... OMIM:618454
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... ORPHA:229
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal cerebral vascul... ORPHA:904
Fanconi Anemia
Aganglionic megacolon, Hypospadias, Abnormal preputium morphology, Cryptorchidism, Patent ductus ... ORPHA:84
Myofibrillar Myopathy 11
Feeding difficulties in infancy, Overweight, Coarctation of aorta, Dysphagia OMIM:619178
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Abdominal distention, Enamel hypoplasia, Nail dystrophy ORPHA:79403
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Synophrys, Coarctation of aorta, Feeding difficulties, Constipation ORPHA:284169
Kanzaki Disease
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment, L... OMIM:609242
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Xanth... OMIM:232240
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Aganglionic megacolon, Abdominal pain, Abdominal di... OMIM:155310
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Greenberg Dysplasia
Hepatomegaly, Hepatic calcification, Hepatosplenomegaly, Stillbirth, Pancreatic islet-cell hyperp... OMIM:215140
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Inguinal hernia, Absent external genitalia, Abdominal distention, Aplasia of the vagina, Aplasia ... OMIM:271520
Kasabach-Merritt Syndrome
Abdominal pain, Abdominal distention, Abnormal lymphatic vessel morphology, Hyperhidrosis, Hepati... ORPHA:2330
Acrocardiofacial Syndrome
Hypoplasia of penis, Hyperthyroidism, Hypospadias, Camptodactyly of finger, Feeding difficulties ... ORPHA:2008
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Rigidity, Spastic tetraplegia, Neurodegeneration, Difficulty walking, Spasticity OMIM:618476
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Alopecia, Brittle hair, Ataxia, Abnormal dental enamel morphology,... ORPHA:2750
Gaucher Disease
Hepatomegaly, Ataxia, Elevated circulating C-reactive protein concentration, Abdominal pain, Feed... ORPHA:355
Mosaic Trisomy 1
Omphalocele, Hepatic agenesis, Camptodactyly of finger, Congenital diaphragmatic hernia, Hypoplas... ORPHA:1692
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Diarrhea, Elevated circulating creatinine concentration, Hemiparesis, Increased b... OMIM:235400
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Osteoarthritis, Limitation of joint mobility, Osteolysis, Jo... ORPHA:285
Digeorge Syndrome
Hepatic steatosis, Inguinal hernia, Femoral hernia, Parathyroid agenesis, Decreased circulating p... OMIM:188400
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Protuberant abdomen OMIM:151210
Galloway-Mowat Syndrome 3
Cerebellar atrophy, Hiatus hernia, Cerebral atrophy, Coarctation of aorta, Hypoalbuminemia, Campt... OMIM:617729
Esophageal Atresia
Omphalocele, Small for gestational age, Failure to thrive in infancy, Maternal diabetes, Abnormal... ORPHA:1199
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Elevated gamma-glutamyltransferase... OMIM:243800
Ctcf-Related Neurodevelopmental Disorder
Inguinal hernia, Small for gestational age, Highly arched eyebrow, Phimosis, Nasogastric tube fee... ORPHA:363611
Eisenmenger Syndrome
Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal distention, Patent... ORPHA:97214
47,Xyy Syndrome
Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo... ORPHA:8
Fabry Disease
Nausea and vomiting, Transient ischemic attack, Anorexia, Abdominal pain, Hyperlipidemia, Optic a... ORPHA:324
Opitz Gbbb Syndrome
Omphalocele, Bifid scrotum, Inguinal hernia, Enlarged ovaries, Hypospadias, Congenital diaphragma... ORPHA:2745
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Sparse scalp hair, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... OMIM:210710
Loeys-Dietz Syndrome 4
Inguinal hernia, Torticollis, Eosinophilic infiltration of the esophagus, Arterial tortuosity, As... OMIM:614816
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus OMIM:615710
Cystic Fibrosis
Male infertility, Hepatomegaly, Meconium ileus, Diarrhea, Ileus, Biliary cirrhosis, Hepatosplenom... OMIM:219700
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Hepatomegaly, Splenomegaly, Jaundice, Loss of eyelashes, Corneal scarri... OMIM:263700
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:134
Double Outlet Right Ventricle
Hypoparathyroidism, Tetralogy of Fallot, Double outlet right ventricle, Feeding difficulties, Coa... ORPHA:3426
Weill-Marchesani Syndrome 2
Patent ductus arteriosus, Elbow flexion contracture, Ascending aortic dissection, Protuberant abd... OMIM:608328
Microphthalmia, Syndromic 9
Inguinal hernia, Truncus arteriosus, Congenital diaphragmatic hernia, Cryptorchidism, Patent duct... OMIM:601186
Kabuki Syndrome 2
Highly arched eyebrow, Neonatal hypoglycemia, Feeding difficulties in infancy, Coarctation of aor... OMIM:300867
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Precocious puberty, Tremor, Choreoathetosis, Myoclo... ORPHA:1934
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Highly arched eyebrow, Congenital diaphragmatic hernia, Precoci... ORPHA:2322
Atelosteogenesis Type Ii
Elbow flexion contracture, Protuberant abdomen, Camptodactyly ORPHA:56304
Opsismodysplasia
Protuberant abdomen, Hypophosphatemia OMIM:258480
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Optic atrophy, Double outlet right ventricle, Cerebral atrophy, Feeding... OMIM:618164
Bohring-Opitz Syndrome
Flexion contracture, Delayed peripheral myelination, Camptodactyly OMIM:605039
Lymphatic Malformation 7
Abdominal distention, Ascites, Varicose veins OMIM:617300
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Meacham Syndrome
Accessory spleen, Aplasia of the right hemidiaphragm, Septate vagina, Patent ductus arteriosus, P... OMIM:608978
Mucopolysaccharidosis Type 2, Severe Form
Abnormal circulating enzyme concentration or activity, Inguinal hernia, Papilledema, Camptodactyl... ORPHA:217085
Fraser Syndrome 2
Ambiguous genitalia, Abdominal distention, Hypoplasia of the thymus, Low anterior hairline OMIM:617666
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal circulating enzyme concentration or activity, Inguinal hernia, Papilledema, Camptodactyl... ORPHA:217093
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology ORPHA:2516
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Hypophosphatemic rickets, Alopecia, Coarctation of aorta OMIM:163200
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Precocious puberty, Cry... ORPHA:96191
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Abdominal pain, Hyperlipidemia, Hydrocele testis, Hypoalbuminemia, Ascites ORPHA:567546
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Pelizaeus-Merzbacher Disease, Connatal Form
Titubation, Cerebral hypomyelination, Abnormal myelination ORPHA:280210
Gabriele-De Vries Syndrome
Waddling gait, Small for gestational age, Decreased response to growth hormone stimulation test, ... ORPHA:506358
Cocaine Intoxication
Elevated circulating creatine kinase concentration, Cerebral hemorrhage, Abdominal pain, Subarach... ORPHA:90068
Sifrim-Hitz-Weiss Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Ga... OMIM:617159
Autosomal Recessive Robinow Syndrome
Alopecia, Inguinal hernia, Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Abnormal... ORPHA:1507
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Microvillus Inclusion Disease
Abdominal distention, Diarrhea ORPHA:2290
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Tricuspid Atresia
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... ORPHA:1209
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Abdominal pain, Retroperitoneal fibrosis, ... ORPHA:449395
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Calcinosis, Elevated hepatic transaminase, Splenomegal... OMIM:613471
Pagod Syndrome
Omphalocele, Congenital diaphragmatic hernia, Abnormality of the spleen, Optic atrophy, Abnormal ... ORPHA:991
Achondrogenesis, Type Ii
Stillbirth, Protuberant abdomen OMIM:200610
Atelosteogenesis, Type I
Neonatal death, Cryptorchidism, Stillbirth, Protuberant abdomen OMIM:108720
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Clonus, Tremor, Jaundice, Patent ductus arteriosus, Cerebral atrophy, Feeding difficult... OMIM:617248
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Laterally extended eyebrow, Highly arched eyebrow, Sparse eyebrow, High anterior hairline, Feedin... OMIM:600987
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Cryptorchidism, Synophrys, Coarctation of aorta, Low posterior hairline, Mi... OMIM:618929
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Neonatal hypoglycemia, Cardiomegaly, Adreno... OMIM:130650
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Hepatomegaly, Cardiomegaly, Asplenia, Hypoplastic toenails, Patent ductus arteriosus... OMIM:306955
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta ORPHA:261243
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Coa... ORPHA:1120
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Abdominal distention, Peritonitis, Thoracic aortic aneurysm OMIM:619351
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Small for gestational age, Hypospadias, Congenital ... ORPHA:1596
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Mullegama-Klein-Martinez Syndrome
Facial palsy, Curly eyelashes, Congenital diaphragmatic hernia, Unsteady gait, Low anterior hairl... OMIM:301022
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Meckel Syndrome, Type 1
Omphalocele, Accessory spleen, Camptodactyly of finger, Adrenal hypoplasia, Malformation of the h... OMIM:249000
Noonan Syndrome 9
Sparse eyebrow, Curly hair, Coarctation of aorta, Cryptorchidism OMIM:616559
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension OMIM:223900
Sotos Syndrome
Tremor, Flexion contracture, Gastroesophageal reflux, Hypothyroidism, Hypospadias, Cryptorchidism... ORPHA:821
Arterial Tortuosity Syndrome
Inguinal hernia, Femoral hernia, Hiatus hernia, Pulmonary artery stenosis, Arterial stenosis, Aor... ORPHA:3342
Noonan Syndrome 2
Curly hair, Abnormal coronary artery origin, Sparse eyebrow, Cryptorchidism, Patent ductus arteri... OMIM:605275
Arterial Tortuosity Syndrome
Inguinal hernia, Carotid artery dissection, Congenital diaphragmatic hernia, Hiatus hernia, Pulmo... OMIM:208050
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity OMIM:616166
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta OMIM:615779
Mowat-Wilson Syndrome
Bifid scrotum, Aganglionic megacolon, Pulmonary artery sling, Supernumerary nipple, Hypospadias, ... OMIM:235730
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Abdominal distention, Congenital hepati... ORPHA:93271
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Maturity-onset diabetes of the young, Tremor, Hy... ORPHA:1578
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Methimazole Embryofetopathy
Hypospadias, Abnormality of the thyroid gland, Coarctation of aorta, Abnormal aortic morphology, ... ORPHA:1923
Achondrogenesis, Type Ia
Stillbirth, Protuberant abdomen OMIM:200600
Lethal Kniest-Like Dysplasia
Protuberant abdomen ORPHA:2347
Robinow Syndrome
Small scrotum, Small for gestational age, External genital hypoplasia, Webbed penis, Cryptorchidi... ORPHA:97360
Myhre Syndrome
Small for gestational age, Ataxia, Cryptorchidism, Patent ductus arteriosus, Obesity, Fine hair, ... OMIM:139210
Currarino Syndrome
Septate vagina, Gastrointestinal obstruction, Abdominal distention, Chronic constipation, Bicornu... OMIM:176450
Mosaic Variegated Aneuploidy Syndrome 2
Small for gestational age, Decreased response to growth hormone stimulation test, Coarctation of ... OMIM:614114
Friedreich Ataxia 2
Diabetic ketoacidosis, Abnormality of peripheral nerve conduction OMIM:601992
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Abdominal situs inversus OMIM:619607
Meacham Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Patent ductus ar... ORPHA:3097
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Osteogenesis Imperfecta
Flexion contracture, Hyperhidrosis, Loss of ambulation, Ataxia, Abnormal dental enamel morphology... ORPHA:666
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Pseudotrisomy 13 Syndrome
Omphalocele, Adrenal hypoplasia, Cryptorchidism, Coarctation of aorta, Bicornuate uterus, Micropenis OMIM:264480
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Descending aorta hypoplasia, ... ORPHA:185
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Ectopic posterior pituitary, Inguinal hernia, Small for gestational ... ORPHA:508488
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Osteomyelitis, Painless fractures due to in... ORPHA:642
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Camptodactyly of finger, Coarctation of aorta ORPHA:2876
Jacobsen Syndrome
Inguinal hernia, Feeding difficulties in infancy, Cryptorchidism, Cerebral atrophy, Coarctation o... ORPHA:2308
Right Atrial Isomerism
Inguinal hernia, Aortopulmonary collateral arteries, Asplenia, Transposition of the great arterie... OMIM:208530
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Omphalocele, Pulmonary artery dilatation, Hypospadias, Asplenia, Patent ductus arteriosus, Pulmon... OMIM:265380
Isolated Permanent Neonatal Diabetes Mellitus
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria ORPHA:99885
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Atypical scarring of skin, Varicose veins, Atrophic scars, Camptodactyly, Vasc... OMIM:618343
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Facial palsy, Optic nerve hypoplasia, Hypertrichosis, Feeding difficulties, Coarctat... ORPHA:508498
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Protuberant abdomen, Camptodactyly, Knee flexion contracture OMIM:618019
Holt-Oram Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Anomalous pulmonary venous return ORPHA:392
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention OMIM:619362
Neu-Laxova Syndrome 2
Protuberant abdomen OMIM:616038
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Patent ductus arteriosus, Coarctation of aorta, Hypogonadism, Mic... OMIM:300514
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Waddling gait, Inguinal hernia, Patent ductus arteriosus, Feeding difficulties, Aortic rupture, A... OMIM:614557
Blomstrand Lethal Chondrodysplasia
Protuberant abdomen, Coarctation of aorta ORPHA:50945
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... ORPHA:672
Cardiac Diverticulum
Omphalocele, Abnormal coronary artery origin, Patent ductus arteriosus, Pulmonary artery stenosis... ORPHA:1686
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Failure to thrive in infancy, Adrenal calcification, Elev... ORPHA:51608
Vascular Ehlers-Danlos Syndrome
Gastrointestinal infarctions, Uterine rupture, Alopecia, Peripheral arteriovenous fistula, Hyposp... ORPHA:286
Mowat-Wilson Syndrome
Bifid scrotum, Asplenia, Gastrointestinal dysmotility, Flexion contracture, Vomiting, Webbed peni... ORPHA:2152
Meester-Loeys Syndrome
Aortic dissection, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cere... OMIM:300989
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Optic nerve hypoplasia, Aortopulmonary collateral arteries, Cryptorchidism, Aortopu... OMIM:620025
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Frontal balding, Highly arched eyebrow, Tremor, Synophrys, Patent ductus arteriosus, Coarctation ... OMIM:612474
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Aortic dissection OMIM:135580
15Q11.2 Microdeletion Syndrome
Ataxia, Poor coordination, Coarctation of aorta, Total anomalous pulmonary venous return, Tetralo... ORPHA:261183
Mosaic Trisomy 16
Small for gestational age, Hypospadias, Maternal diabetes, Nasogastric tube feeding in infancy, P... ORPHA:1708
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cerebellar atrophy, Cardiomegaly, Inability to walk, Feeding difficulties, Coarctation of aorta, ... OMIM:620066
Phace Association
Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Vascular dilatation, Paten... OMIM:606519
Noonan Syndrome 10
Curly hair, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Left ... OMIM:616564
Marfan Syndrome
Inguinal hernia, Cachexia, Descending aortic dissection, Dilatation of an abdominal artery, Aorti... ORPHA:558
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Conotruncal Heart Malformations
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... OMIM:217095
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hypospadias, Highly arched eyebrow, Trichiasis, Feeding difficulties in infancy, Nasogastric tube... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hypospadias, Highly arched eyebrow, Trichiasis, Feeding difficulties in infancy, Nasogastric tube... ORPHA:353277
Mosaic Variegated Aneuploidy Syndrome
Vaginal neoplasm, Coarctation of aorta, Abnormal aortic morphology, Ambiguous genitalia, Ascites,... ORPHA:1052
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Floating-Harbor Syndrome
Inguinal hernia, Hypospadias, Cryptorchidism, Glandular hypospadias, Low posterior hairline, Coar... OMIM:136140
Toriello-Carey Syndrome
Aganglionic megacolon, Feeding difficulties in infancy, Cryptorchidism, Sparse eyebrow, Patent du... ORPHA:3338
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Asplenia, Flexion contracture, Webbed penis, Micropenis, Abnormality of the pulmon... ORPHA:261537
You-Hoover-Fong Syndrome
Ataxia, Coarctation of aorta, Vascular ring, Spasticity, Double aortic arch OMIM:616954
Monosomy 18Q
Choreoathetosis, Abnormal myelination ORPHA:1600
Pallister-Killian Syndrome
Small scrotum, Congenital diaphragmatic hernia, Flexion contracture, Camptodactyly of 2nd-5th fin... OMIM:601803
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Pilomatrixoma, Obesity, Coarctation of aor... ORPHA:353281
Leukocyte Adhesion Deficiency
Peritonitis, Cerebral atrophy, Nail dystrophy, Hyperinsulinemic hypoglycemia, Vaginitis ORPHA:2968
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Asplenia, Flexion contracture, Webbed penis, Micropenis, Abnormality of the pulmon... ORPHA:261552
Noonan Syndrome 1
Male infertility, Failure to thrive in infancy, Hypospadias, Feeding difficulties in infancy, Cry... OMIM:163950
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial palsy, Coarctation of aorta ORPHA:2780
Alport Syndrome
Renal glomerular foam cells, Abnormal aortic morphology, Vomiting, Dysphagia, Clitoral hypertroph... ORPHA:63
Marfan Syndrome
Reduced subcutaneous adipose tissue, Aortic dissection, Incisional hernia, Flexion contracture, A... OMIM:154700
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Abdominal aortic aneurysm, Eosinophilic infiltration of the esophagus... OMIM:613795
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Floating-Harbor Syndrome
Speech apraxia, Broad-based gait, Small for gestational age, Hypospadias, Precocious puberty, Cry... ORPHA:2044
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... OMIM:613854
Partial Atrioventricular Septal Defect
Transient ischemic attack, Patent ductus arteriosus, Anomalous pulmonary venous return, Coarctati... ORPHA:1330
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Catel-Manzke Syndrome
Inguinal hernia, Overriding aorta, Cryptorchidism, Coarctation of aorta, Thin eyebrow, Camptodact... OMIM:616145
Fixed Subaortic Stenosis
Cardiomegaly, Patent ductus arteriosus, Coarctation of aorta, Ascending tubular aorta aneurysm, L... ORPHA:3092
Primrose Syndrome
Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Ataxia, Bilateral cryptorchid... OMIM:259050
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Glycosuria OMIM:600001
Mycophenolate Mofetil Embryopathy
Hypoplastic toenails, Congenital diaphragmatic hernia, Coarctation of aorta ORPHA:268249
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia ORPHA:444077
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morphology, Tetralogy of Fallot, ... ORPHA:99050
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Feeding difficulties OMIM:217085
Atresia Of Urethra
Abdominal distention, Ascites ORPHA:105
Aneurysm-Osteoarthritis Syndrome
Inguinal hernia, Arterial dissection, Camptodactyly of finger, Arterial tortuosity, Patent ductus... ORPHA:284984
Autosomal Dominant Cutis Laxa
Inguinal hernia, Dilatation of the ventricular cavity, Coarctation of aorta, Feeding difficulties... ORPHA:90348
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Decreased response to growth hormone stimulation test, Coarctation of a... OMIM:617260
Pyknoachondrogenesis
Abdominal distention ORPHA:3003
Diamond-Blackfan Anemia
Radial artery aplasia, Small for gestational age, Hypospadias, Low anterior hairline, Coarctation... ORPHA:124
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Patent ductus arteriosus, Coarctation of aorta, Hepatosplenomegaly, Aplasia of ... OMIM:274000
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Abnormal central motor function, Cerebral artery stenosis, Precocious ... ORPHA:97685
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... OMIM:618780
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Cyst of the ductus choledochus, Patent ductus arteriosus, Feeding difficulties, Coar... OMIM:619480
Kabuki Syndrome 1
Highly arched eyebrow, Premature thelarche, Feeding difficulties in infancy, Sparse eyebrow, Cryp... OMIM:147920
Orofaciodigital Syndrome Vi
Failure to thrive, Coarctation of aorta OMIM:277170
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Hemiplegia/hemiparesis, Coarctation ... ORPHA:42775
Loeys-Dietz Syndrome
Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Atypical scarring of skin... ORPHA:60030
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... OMIM:614823
Nijmegen Breakage Syndrome
Premature ovarian insufficiency, Neurodegeneration OMIM:251260
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... OMIM:620294
Oculoectodermal Syndrome
Transient ischemic attack, Supernumerary nipple, Patent ductus arteriosus, Coarctation of aorta, ... OMIM:600268
Heterotaxy, Visceral, 5, Autosomal
Cerebellar atrophy, Asplenia, Patent ductus arteriosus, Partial anomalous pulmonary venous return... OMIM:270100
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hydrometrocolpos, Coarctation of aorta, Nai... OMIM:617088
Genetic Recurrent Myoglobinuria
Elevated hepatic transaminase, Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, ... ORPHA:99845
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Feeding difficulties in infancy, Cryptorchidism, Coarctation of aorta, Dif... OMIM:618748
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Coarctation of aorta... ORPHA:980
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... OMIM:619702
Maternal Phenylketonuria
Double outlet right ventricle, Tetralogy of Fallot, Coarctation of aorta ORPHA:2209
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Right aortic arch, Abdominal situs inversus, Pulmonary artery... OMIM:617205
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of ao... OMIM:600460
Degcags Syndrome
Abnormal myelination OMIM:619488
Aortic Arch Interruption
Feeding difficulties in infancy, Patent ductus arteriosus, Double outlet right ventricle, Abnorma... ORPHA:2299
Diamond-Blackfan Anemia 1
Failure to thrive, Coarctation of aorta OMIM:105650
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Increased circulating lactate dehydrogenase concentration OMIM:268200
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Hematochezia, Stroke, ... OMIM:175050
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Coarctation of aorta OMIM:613426
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Cardiomegaly, Patent ductus arteriosus, Pulmonary artery stenosis, Hypoplastic aort... ORPHA:99125
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Orofaciodigital Syndrome Type 14
Abnormal myelination ORPHA:434179
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... ORPHA:402075
Craniofacial Microsomia 1
Right aortic arch, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:164210

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 Lpin1

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 Lpin1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Loss of lipin 1-mediated phosphatidic acid phosphohydrolase activity in muscle leads to skeletal myopathy in mice. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (July 2018) Lpin1tm1a(EUCOMM)Hmgu PMC6355067

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Lpin1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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