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Gene: Drd2 MGI:94924

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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:
dopamine receptor D2
Synonyms:
D2 receptor,  Drd-2,  D2R

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 Drd2 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 Drd2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myoclonus-Dystonia Syndrome
Torticollis, Depression, Myoclonus, Compulsive behaviors, Spinal myoclonus, Limb myoclonus ORPHA:36899

The table below shows human diseases predicted to be associated to Drd2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Photoparoxysmal Response 1
EEG with photoparoxysmal response OMIM:132100
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Dysphagia ORPHA:228169
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor OMIM:610297
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dysphagia, Emotional ... OMIM:128235
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Parkinson Disease 22, Autosomal Dominant
Restless legs, Resting tremor, Rigidity, Depression, Bradykinesia, Gait disturbance, Parkinsonism... OMIM:616710
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia OMIM:605909
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity, Attention deficit hyperactivity disorder OMIM:618878
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Severe temper tantrums, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait OMIM:619052
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Parkinsonism With Polyneuropathy
Resting tremor, Rigidity, Depression, Bradykinesia, Parkinsonism with favorable response to dopam... OMIM:619279
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance OMIM:600116
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance OMIM:609161
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Hype... ORPHA:91351
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Dystonia 16
Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal sign, Bradykinesia, Gait... OMIM:612067
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Depression, Bradykinesia, Gait ataxia, Dysphagia, Emot... ORPHA:71517
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Decreased serum estradi... OMIM:618117
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... ORPHA:314632
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Autosomal Dominant Spastic Paraplegia Type 3
Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle clonus, Lower limb hypertonia... ORPHA:100984
Isolated Growth Hormone Deficiency, Type Ib
Micropenis, Reduced circulating growth hormone concentration, Decreased response to growth hormon... OMIM:612781
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Depression, Bradykinesia, Tip-toe gait, Gait disturbance, Compulsi... OMIM:615643
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai... OMIM:615528
Huntington Disease
Rigidity, Chorea, Depression, Bradykinesia, Gait ataxia OMIM:143100
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis OMIM:233300
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Decreased serum estradiol, Elevated circulating follicle stimulating ho... OMIM:617690
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... OMIM:300423
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Parkinsonism, Bradykinesia, Hypertonia, Attention deficit hyperactivity disorde... OMIM:617384
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... OMIM:213600
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Tsh-Secreting Pituitary Adenoma
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypog... ORPHA:91347
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Parkinsonism with fav... ORPHA:240085
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Hereditary Central Diabetes Insipidus
Diarrhea, Polydipsia, Vomiting, Weight loss ORPHA:30925
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Spastic paraplegia, Babinski sign, Limb ataxia, Bradykinesia, Gait disturb... OMIM:618418
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Parkinsonism with fa... OMIM:128230
Huntington Disease-Like 2
Rigidity, Chorea, Depression, Bradykinesia, Irritability, Action tremor OMIM:606438
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... OMIM:619665
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... OMIM:612964
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Small pituitary gland, Delayed puberty, Micropenis OMIM:612702
Juvenile Huntington Disease
Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... ORPHA:248111
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Micropenis, Small pituitary gland, Decreased testicular size OMIM:614880
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Rigidity, Depression, Bradykinesia, Gait disturbance, Shuffling gait, Dysphagia, Sp... OMIM:221820
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking ORPHA:306669
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia, D... OMIM:618317
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoospermia, Elevated c... OMIM:301077
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Spastic Paraplegia 78, Autosomal Recessive
Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski sign, Abnormal pyramidal sign... OMIM:617225
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Limb ataxia, Dysme... OMIM:607136
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolactin level, Elevated ... OMIM:615842
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Bradykinesia, Blepharospasm, Parkinsonism with favorab... OMIM:606324
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Bradykin... ORPHA:240103
Infantile Dystonia-Parkinsonism
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Irritability, Hypert... ORPHA:238455
Corticobasal Syndrome
Speech apraxia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Oromotor apr... ORPHA:454887
Hydatidiform Mole
Hyperthyroidism, Enlarged uterus ORPHA:99927
Huntington Disease
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Depression, Clumsiness, Gait dis... ORPHA:399
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612079
Manganese Poisoning
Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Depression, Bradykinesia, Irritab... ORPHA:306682
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Bradykinesia, Ankle clonus, Loss of ambulation... ORPHA:521406
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... OMIM:173100
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia OMIM:618824
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... OMIM:619203
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level OMIM:619949
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... ORPHA:240094
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Blind vagina, Elevated circulating follicle stimu... OMIM:300068
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Impaired temperature sensation, Xerostomia, Clitoral ... ORPHA:398079
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Rigidity, Parkinsonism OMIM:614251
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Parkinson Disease 21
Bradykinesia, Tremor, Rigidity, Parkinsonism OMIM:616361
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Dysphagia, Limb myoclonus OMIM:619862
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Ankle clonus, Hypertonia... OMIM:617435
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:95513
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Irrita... ORPHA:101150
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonism, Action tremor, Im... OMIM:300623
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Ataxia, Clonus, Rigidity, Chorea, Depression, Choreoathetosis, Bradykinesia, Opisth... ORPHA:13
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, Elevated circulating... OMIM:618086
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... OMIM:221750
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Ovarian Dysgenesis 10
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... OMIM:619834
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Dysphagia, Spasticity, Upper motor neuron dysfunction OMIM:500001
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Spinocerebellar Ataxia 10
Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Bradykinesia, Pro... OMIM:603516
Narcolepsy Type 1
Cataplexy, Syncope, Slurred speech, Obesity ORPHA:2073
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Impaired temperature sensation, Xerostomia, Increased... ORPHA:398069
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy, Ataxia OMIM:208750
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Irritability, Bradykinesia, Hypertonia, ... OMIM:261640
Cln3 Disease
Extrapyramidal muscular rigidity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Fo... ORPHA:228346
Premature Ovarian Failure 1
Increased circulating gonadotropin level OMIM:311360
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Spermatogenic Failure 77
Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulating testosterone co... OMIM:620103
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypoplasia of the ovary, Elevated ci... OMIM:612885
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Premature Ovarian Failure 8
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... OMIM:615723
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Depression, Bradykinesia, Gait ... OMIM:137440
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... OMIM:606693
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Bradykinesia, Ble... OMIM:606159
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Free... OMIM:619911
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Restlessness, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Ob... OMIM:300055
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Cog2-Cdg
Small pituitary gland ORPHA:435934
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Hand tremor, Bradykinesia, ... ORPHA:53351
Coproporphyria, Hereditary
Tachycardia, Confusion, Depression, Hypertension, Increased urinary porphobilinogen, Respiratory ... OMIM:121300
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Ataxia, Tremor, Rigidity OMIM:617836
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Hypoplastic labia majora, Decreased serum estradi... OMIM:618187
Central Diabetes Insipidus
Anorexia, Diarrhea, Weight loss, Polydipsia, Failure to thrive ORPHA:178029
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Aggressive behavior, Tremor, Paraparesis, Gait apraxia, B... OMIM:615157
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Apnea, Episodic tachypnea, Parkinsonism, Poor motor coordination, Dysphagia, Depress... ORPHA:79264
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98754
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia OMIM:618160
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98793
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Decreased circulating follicle stimulating hormon... OMIM:229070
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177904
Perrault Syndrome 1
Ataxia, Increased circulating gonadotropin level, Spastic diplegia, Primary amenorrhea, Gait atax... OMIM:233400
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177901
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration OMIM:264110
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Bradykinesia, Inappropriate behavior, Falls, Shuffling gait, Short stepped shufflin... ORPHA:412066
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, ... ORPHA:453533
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... OMIM:311510
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Primary Progressive Freezing Gait
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Dysphagia, Bradykinesia, Shuffli... ORPHA:75567
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait disturbance, Shuffling gai... ORPHA:289560
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Macroorchidism, Hypercholesterole... ORPHA:90674
Aceruloplasminemia
Abnormality of retinal pigmentation, Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Akines... ORPHA:48818
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Septooptic Dysplasia
Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:182230
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Depression, Bradykinesia, Inappropriate behavior, Disin... OMIM:168605
Sheehan Syndrome
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... ORPHA:91355
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Premature Ovarian Failure 21
Decreased serum estradiol, Streak ovary, Precocious puberty in females, Elevated circulating foll... OMIM:620311
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... ORPHA:99429
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Leydig Cell Hypoplasia
Abnormal internal genitalia, Decreased serum testosterone concentration, Hypospadias, Abnormal ex... ORPHA:755
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Ataxia, Increased circulating gonadotropin level, ... ORPHA:243
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:618723
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Effort-induced polymorphic ventricular... ORPHA:3282
Trimethylaminuria
Tachycardia, Trimethylaminuria, Recurrent pneumonia, Depression, Hypertension OMIM:602079
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Weight los... ORPHA:157941
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Cryptorchidism, Hypo... OMIM:615849
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign OMIM:619063
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... ORPHA:95716
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Obesity, Myocardial infarction OMIM:608320
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal pyramidal sign, Br... ORPHA:240071
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... ORPHA:90695
Joubert Syndrome 26
Micropenis, Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hy... OMIM:616784
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Multiple System Atrophy, Cerebellar Type
Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neuromuscular dysphagi... ORPHA:227510
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Gait disturbance, Shuffling gai... OMIM:168601
Idiopathic Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... ORPHA:95717
Premature Ovarian Failure 2A
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300511
Spinocerebellar Ataxia 2
Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinski sign, Limb ataxia, Dysme... OMIM:183090
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili... ORPHA:66624
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Small for gestational age, Akinesia, Spastic tetraplegia, Seizure, Hypertonia, Failure to thrive,... OMIM:619147
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Depression, Bra... ORPHA:98933
Dystonia 31
Abnormal posturing, Parkinsonism, Difficulty walking OMIM:619565
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Depr... ORPHA:282166
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Delirium, Abnormal central motor function, Para... ORPHA:3385
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dysphagia, Short steppe... OMIM:168600
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Hyperactivity, Paralysis, Aggressive behavior, Parap... ORPHA:43
Gitelman Syndrome
Prolonged QT interval, Salt craving, Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Hypoma... OMIM:263800
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Hypertrophic cardiomyopathy, Ataxia, Obesity OMIM:620270
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Depression, Bradykinesia, Cogwheel rigidity, Shuffling gait, Dysphagia, Parkinsonism with... ORPHA:254886
Mercury Poisoning
Respiratory distress, Tachycardia, Confusion, Anorexia, Tremor, Dyspnea, Hypertension, Respirator... ORPHA:330021
Atypical Rett Syndrome
Episodic tachypnea, Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Sudden episodi... ORPHA:3095
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Tremor, Focal-... ORPHA:36387
Ethylene Glycol Poisoning
Tachypnea, Hypocalcemia, Ataxia, Confusion, Episodic respiratory distress, Renal tubular dysfunct... ORPHA:31826
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Dysmetria, Gait ataxia, Bradykinesia, Dysphagia, Hemiparesis, Truncal ata... OMIM:601338
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Congenital Myopathy 9A
Cryptorchidism, Tongue fasciculations, Obesity, Akinesia OMIM:618822
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Postencephalitic Parkinsonism
Fever, Resting tremor, Involuntary movements, Akinesia, Diminished movement, Rigidity, Babinski s... ORPHA:97349
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Bronchiectasis, Sta... OMIM:619468
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Pneumonia, Confusion, Elevated circulating C-reactive protein concen... ORPHA:36238
Spinocerebellar Ataxia Type 8
Ataxia, Rigidity, Unsteady gait, Limb ataxia, Gait ataxia, Bradykinesia, Depression, Spastic dysa... ORPHA:98760
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Central hypothyroidism, Abn... OMIM:616113
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, D... ORPHA:98764
Spinocerebellar Ataxia 21
Ataxia, Parkinsonism, Akinesia, Postural tremor, Aggressive behavior, Impulsivity, Limb ataxia, G... OMIM:607454
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Respiratory insufficiency, Cardiomyopathy, Or... OMIM:255100
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Astrocytosis, Irritabilit... ORPHA:275864
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
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A... ORPHA:3077
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Paraparesis, Oro... OMIM:617854
Tetanus
Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Elevated u... ORPHA:3299
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational a... ORPHA:45452
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreoathetosis,... OMIM:618877
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Parkinsonism, Im... OMIM:157640
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Hypermanganesemia With Dystonia 2
Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor gait, Opisthotonus, Bradykinesia,... OMIM:617013
Hypermanganesemia With Dystonia 1
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm... OMIM:613280
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:98755
Serotonin Syndrome
Restlessness, Tachycardia, Confusion, Clonus, Tremor, Rigidity, Tachypnea, Hypertension, Irritabi... ORPHA:43116
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Ataxia, Decreased response to growth hormone stimulation test, Small for gestational age, Cryptor... ORPHA:3363
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior, Micrognathia, Pachygyria, Polymicrogyria, Crypto... OMIM:604317
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Ataxia, Polyuria, Renal salt wasting, Hypertension, Dysdiadochokinesis, Enuresis, I... OMIM:612780
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Large for gestational age, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Intrauterine growth retarda... OMIM:615411
Endocardial Fibroelastosis
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism ORPHA:2022
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level OMIM:616946
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Progressive neurologic deterioration, Tremor, Increased body weight, Agitation, Leth... ORPHA:276608
Progressive Supranuclear Palsy
Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Bradykinesia, Blepharospasm, Falls, Dys... ORPHA:683
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Multiple System Atrophy
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:102
Pituitary Apoplexy
Fever, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Red... ORPHA:95613
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Ataxia, Chorea, Primary amenorrhea, Secondary amenorrhea, Absence ... OMIM:212840
Acute Intermittent Porphyria
Urinary incontinence, Tremor, Respiratory paralysis, Hyponatremia, Confusion, Respiratory insuffi... ORPHA:79276
Adult-Onset Nemaline Myopathy
Bradykinesia, Poor fine motor coordination, Neuromuscular dysphagia, Difficulty walking ORPHA:171442
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Impulsivity, Incr... ORPHA:99330
49,Xxxyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:261534
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Micropenis, Pituitary hypothyroidism, Anterior pituitary hypoplasia OMIM:619983
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development OMIM:618078
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... OMIM:610476
Machado-Joseph Disease
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb ataxia, Dyspha... OMIM:109150
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Rigidity, Tremor, Bradykinesia, Limb hypertonia ORPHA:70594
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... ORPHA:90791
Leptin Receptor Deficiency
Diabetes mellitus, Short stature, Hypergonadotropic hypogonadism, Decreased response to growth ho... OMIM:614963
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Impulsivity, Rigidity, Depression, Bradykinesia, Agitatio... ORPHA:411602
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggressive behavior, Tr... OMIM:612953
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Variegate Porphyria
Tachycardia, Paralysis, Porphyrinuria, Increased urinary porphobilinogen, Elevated urinary delta-... OMIM:176200
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Holocarboxylase Synthetase Deficiency
Respiratory distress, Ataxia, Anorexia, Tachypnea, Hyperammonemia, Weight loss, Irritability, Org... ORPHA:79242
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Gait disturbance, Obesity ORPHA:436141
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Impotence, Dem... ORPHA:93256
Temple Syndrome
Small for gestational age, Short stature, Decreased response to growth hormone stimulation test, ... ORPHA:254516
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ... ORPHA:225147
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Shuffling gait, Myo... ORPHA:171695
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Laryngeal Neuroendocrine Tumor
Neoplasm of the larynx, Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, ... ORPHA:100083
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Neuromuscular dysphagia, ... ORPHA:449285
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity OMIM:618406
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Constipation, Polydipsia, Vomiting OMIM:125800
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Constipation, Polydipsia, Vomiting OMIM:304800
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
4H Leukodystrophy
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho... ORPHA:289494
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Depression, Bradykin... ORPHA:98808
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Confusion, Heart block, Tachypnea, Elevated circulating creatinine concentration, Ca... ORPHA:542323
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, Seizure, Gait disturbance, Agitation, Difficulty w... ORPHA:778
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiado... OMIM:610217
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,... OMIM:619476
Central Precocious Puberty In Male
Astrocytoma, Abnormality of the testis size, Craniopharyngioma, Aggressive behavior, Pituitary mi... ORPHA:649929
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... ORPHA:90068
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Aggressive behavior ORPHA:329249
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra... ORPHA:90673
Leukoencephalopathy With Vanishing White Matter 1
Fever, Premature ovarian insufficiency, Decreased circulating progesterone, Unsteady gait, Primar... OMIM:603896
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Agi... ORPHA:276556
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, T2 hypointense thalamus, Chorea, Babinski si... ORPHA:157846
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Spinocerebellar Ataxia Type 13
Torticollis, Limb ataxia, Gait ataxia, Bradykinesia, Titubation, Clumsiness, Myoclonus, Difficult... ORPHA:98768
Joubert Syndrome 7
Central apnea, Encephalocele, Ataxia, Episodic tachypnea, Tachypnea, Stage 5 chronic kidney disea... OMIM:611560
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Alexander Disease
Diabetes mellitus, Ataxia, Clonus, Hypothermia, Precocious puberty, Tremor, Chorea, Abnormal pyra... ORPHA:58
Obesity And Hypopigmentation
Polyphagia, Obesity OMIM:620195
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Ataxia, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency, Spast... OMIM:614299
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Cholera
Hyponatremia, Tachycardia, Abnormality of renal excretion, Tachypnea, Abnormal blood ion concentr... ORPHA:173
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71529
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... ORPHA:95494
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Hemiplegia... ORPHA:3157
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... OMIM:301033
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Triple A Syndrome
Generalized hyperpigmentation, Ataxia, Seizure, Adrenal insufficiency, Anterior hypopituitarism ORPHA:869
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Paroxysmal Extreme Pain Disorder
Impaired pain sensation, Tachycardia, Bradycardia, Rhinorrhea OMIM:167400
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Multifocal seizures, Decreased response to growth hormone stimulation test, Hypo... ORPHA:488632
Classic Galactosemia
Lethargy, Male infertility, Premature ovarian insufficiency, Ataxia, Cryptorchidism, Secondary am... ORPHA:79239
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Parkinsonism, Impaired distal proprioception, Rigidity, Impaired distal vibration sensation, Babi... OMIM:258450
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Small scrotum, Hypogon... OMIM:308700
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa... ORPHA:563
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Small for gestational age, Large for gestational age, Decreased circulating free fat... ORPHA:324575
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... ORPHA:289548
Arima Syndrome
Ataxia, Proteinuria, Polyuria, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, Hematuria, Hyp... OMIM:243910
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... OMIM:600121
Citrullinemia Type I
Torticollis, Ataxia, Tachypnea, Slurred speech, Hyperammonemia, Ankle clonus, Elevated plasma cit... ORPHA:247525
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Agi... ORPHA:276575
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Gait ataxia, Hypertonia, Lethargy, Hypothyroidism, Hyperthyroidism, Ataxia, Seizure, Gait... ORPHA:254892
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Respiratory insu... OMIM:613845
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... ORPHA:168558
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:607432
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Abnormal c... ORPHA:264675
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Chorea, Elevated circulating thyroid-stimulating hormone concentration, Abnor... ORPHA:209905
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Beta-Ketothiolase Deficiency
Ketonuria, Ataxia, Anorexia, Tachypnea, Hyperammonemia, Weight loss, Hypertension, Agitation, Hyp... ORPHA:134
Fetal Akinesia Deformation Sequence
Cryptorchidism, Hypokinesia, Akinesia ORPHA:994
Fg Syndrome Type 1
Broad-based gait, Hypospadias, Cryptorchidism, Seizure, Small pituitary gland, Compulsive behavio... ORPHA:93932
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Impaired proprioception, Hand tremor, Head tremor, Hypothyroidism, Seizure, Gait disturbance, Oli... ORPHA:412057
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Seizure, Decreased fertility in males, Delayed ... ORPHA:2965
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Tachycardia, Tremor, Hypoesthesia, Obesity, Hemiparesis, Hypertonia... OMIM:619737
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Cerebral palsy, Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal... ORPHA:369929
Giant Axonal Neuropathy
Unsteady gait, Abnormal pituitary gland morphology, Babinski sign, Distal sensory impairment, Fal... ORPHA:643
Spontaneous Periodic Hypothermia
Ataxia, Hypothermia, Tremor, Hyperhidrosis, Seizure, Gait disturbance ORPHA:29822
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Astrocytosis, Inappropriate behavior, Disinhibition, Abnormal ... OMIM:600795
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Childhood-Onset Nemaline Myopathy
Waddling gait, Neuromuscular dysphagia, Clumsiness, Bradykinesia, Poor fine motor coordination, D... ORPHA:171439
Developmental And Epileptic Encephalopathy 78
Cerebral palsy, Hypothermia, Inability to walk, Chorea, Seizure, Status epilepticus, Spasticity OMIM:618557
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Large for gestational age, Syncope, Agitation, Palpitations, Lethargy, Hypertrophic ... ORPHA:276580
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Severe short stature, Wid... OMIM:619598
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Acute Peripheral Arterial Occlusion
Myocardial infarction, Paralysis, Abnormal capillary physiology, Absent ankle pulse, Paresthesia,... ORPHA:90064
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Hypercalcemia, Infantile, 1
Hypercalcemia, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Lethargy... OMIM:143880
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Dyspnea, Tachypnea, Abnormal pyramidal sign, Choreoathetosis, Gai... ORPHA:765
Late-Onset Familial Hypoaldosteronism
Fever, Abnormal external genitalia, Abnormal circulating corticosterone level, Elevated serum 11-... ORPHA:556037
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Failure to thrive, Periventricular heterotopia OMIM:608097
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:617862
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo... ORPHA:340
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Dyspnea, Tachy... OMIM:616414
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Dyspnea, Atrial standstill, Congestive... ORPHA:1344
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Hyperalaninemia, Ataxia, Spastic tetraparesis, Elevated circulating acylcarnitine concentration, ... OMIM:615838
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Hypopl... OMIM:614841
Pituitary Gigantism
Elevated circulating growth hormone concentration, Hyperhidrosis, Increased circulating insulin-l... ORPHA:99725
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive mannerisms OMIM:619150
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of neuronal migration, Abnormality of the liver, Intrauterine growth re... ORPHA:1980
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Agitation, Gait imbalance... ORPHA:2828
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spastic tetraplegia, Choreoathetosis, Seizure, Adrenal insufficiency, Spasticity, Failure to thrive OMIM:618238
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Mental deterioration, Truncal obes... OMIM:219080
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Proteinuria, Progressive neurologic deterioration, Large for gestational age, Tremor... ORPHA:263455
Neuroleptic Malignant Syndrome
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Tre... ORPHA:94093
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... ORPHA:466722
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... ORPHA:432
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Delayed puberty OMIM:300510
Ochoa Syndrome
Polydipsia, Constipation, Bowel incontinence ORPHA:2704
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Chromosome 14Q11-Q22 Deletion Syndrome
Generalized-onset seizure, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cr... OMIM:613457
X-Linked Cerebral Adrenoleukodystrophy
Decreased circulating cortisol level, Hoffmann sign, Dysmetria, Male hypogonadism, Hyperactivity,... ORPHA:139396
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Hyperactivity, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, A... OMIM:234200
Rett Syndrome
Dystonia, Apnea, Intermittent hyperventilation, Cachexia, Gait apraxia, Bruxism, Gait ataxia, Tru... OMIM:312750
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... ORPHA:293987
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Increased urinary glycerol, Apnea, Dyspnea, Irritability, Lethargy, Hyperventilation OMIM:229700
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Tachycardia, Recurrent myoglobinuria, Elevated circulating creatine kinase concentrat... ORPHA:368
Orthostatic Hypotension 1
Seizure, Retrograde ejaculation, Intermittent hypothermia, Reduced circulating prolactin concentr... OMIM:223360
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Cardiac arrest, Elevated circulating creatine kinase concentration, Ventri... OMIM:212138
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Fever, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperpig... ORPHA:90790
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency, Dysphagia OMIM:619025
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Prolonged QT interval, Tachycardia, Small for gestational age, Pneumonia, E... ORPHA:26793
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... ORPHA:3464
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:300067
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Confusion, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Short stature, Maternal diabetes, Micrognathia, Cryptorchidism, Cox... ORPHA:1988
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... OMIM:176270
Leber Hereditary Optic Neuropathy
Postural tremor, Ataxia, Retinal telangiectasia, Ventricular preexcitation, Arrhythmia ORPHA:104
Propionic Acidemia
Apnea, Increased level of hippuric acid in urine, Cerebellar hemorrhage, Tachypnea, Hyperglycinur... OMIM:606054
Prader-Willi Syndrome Due To Imprinting Mutation
Short stature, Hypogonadotropic hypogonadism, Small hand, Obesity, Short foot, Abnormal ulnar met... ORPHA:177910
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Primary adrenal insufficiency, Slurred speech, L... OMIM:300100
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity OMIM:614962
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Tachypnea, Prominent ... ORPHA:466677
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Poor coordination, Stage 5 chronic kidney disease, Renal cyst, Obesity, Cog... OMIM:615994
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Early-Onset Familial Hypoaldosteronism
Abnormal external genitalia, Abnormal circulating corticosterone level, Elevated serum 11-deoxyco... ORPHA:556030
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... OMIM:609441
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Ataxia, Cardiac arrest, Elevated circulating creatine kinase concentration, Ketonuria, ... OMIM:616878
Carnitine-Acylcarnitine Translocase Deficiency
Elevated creatine kinase after exercise, Sudden episodic apnea, Dicarboxylic aciduria, Elevated c... ORPHA:159
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypoplasia of penis, Small scrotum, Hypothermia, Cryptorchidism, Myoclonus, Ambiguous genitalia ORPHA:168593
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Schaaf-Yang Syndrome
Failure to thrive in infancy, Rocker bottom foot, Impulsivity, Tapered finger, Short stature, Cry... OMIM:615547
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Rigidity, Focal hemiclonic seizure, Chorea, ... OMIM:616981
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Perry Syndrome
Central hypoventilation, Parkinsonism, Tremor, Depression, Weight loss, Dementia, Abnormality of ... ORPHA:178509
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno... ORPHA:525731
Adrenomyeloneuropathy
Dysesthesia, Lip hyperpigmentation, Progressive spastic paraparesis, Babinski sign, Primary adren... ORPHA:139399
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Primary amenorrhea, Adrenogenital syndrome, Ambi... OMIM:202110
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Ataxia, Tongue fasciculations, Attention deficit hyperactivity disorder, Failure to thrive, Hypok... OMIM:620007
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Failure to thrive, Astrocytosis, Dysphagia ORPHA:225154
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Broad-based gait, Hypogonadotropic hypogonadism, Cryptorchidism, Dysmetria, Decreased circulating... OMIM:619761
Kennedy Disease
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula... ORPHA:481
Acute Lung Injury
Respiratory distress, Shock, Pneumonia, Elevated circulating C-reactive protein concentration, Di... ORPHA:178320
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Dyspnea, Tachypnea, Hypercalciuria, Amino... OMIM:239200
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Apnea, Cardiac arrest, Ataxia, Anorexia, Spastic hemiparesis, Dilated cardiomyopathy, ... ORPHA:20
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Epileptic spasm, Involuntary movements, Hypotherm... ORPHA:438213
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Spinocerebellar Ataxia 32
Ataxia, Azoospermia, Infertility, Cognitive impairment, Testicular atrophy OMIM:613909
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms OMIM:617830
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Self-injurious behavior, Constipation, Abnormal repetitive mannerisms,... ORPHA:228402
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... ORPHA:70587
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Aggressive behavior ORPHA:208441
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Hypopigmented skin patche... ORPHA:3453
Timothy Syndrome
Seizure, Patent ductus arteriosus, Hypothyroidism, Hypothermia OMIM:601005
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Incr... OMIM:610600
Hydroxykynureninuria
Tachycardia, Breathing dysregulation, Abnormal circulating tryptophan concentration, Renal tubula... ORPHA:79155
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoplasia of penis, Adrenal hypoplasia, Hypothyr... ORPHA:95496
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Polyuria, Proximal tubulopathy, Myoclonus, Failure to thrive OMIM:560000
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Fever, Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Recurrent fever OMIM:201910
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Complete Atrioventricular Septal Defect
Crackles, Tachypnea, Atrioventricular block, Lethargy, Abnormal EKG, Intercostal retractions, Ele... ORPHA:1329
14Q11.2 Microduplication Syndrome
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Obesity OMIM:616756
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
Hypercalcemia, Infantile, 2
Hypercalcemia, Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... OMIM:620152
Porphyria, Acute Intermittent
Tachycardia, Urinary incontinence, Dysuria, Paralysis, Depression, Hypertension, Respiratory para... OMIM:176000
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbance,... ORPHA:216866
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... ORPHA:99105
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Hereditary Coproporphyria
Hyponatremia, Dark urine, Tachycardia, Abnormal circulating porphyrin concentration, Respiratory ... ORPHA:79273
Joubert Syndrome 32
Ataxia, Large for gestational age, Oculomotor apraxia, Hypertrophic cardiomyopathy, Tall stature OMIM:617757
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Hypothyroidism, Uterus didelphys ORPHA:2491
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Apnea, Oculogyric crisis, Tongue thrusting, Babinski s... OMIM:608643
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Irritability, Fa... OMIM:609454
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Speech apraxia, Confusion, Clonus, Oroticaciduria, Tachypnea, Abnor... ORPHA:415
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... ORPHA:3044
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Progressive cerebellar ataxia, Cognitive impairment, Testicular at... ORPHA:276183
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Broad-based gait, Ataxia, Dystonia, Crackles... OMIM:610978
Kearns-Sayre Syndrome
Anterior hypopituitarism ORPHA:480
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Tachypnea, Methylmalonic aciduria, Hyperhomocystinemia... OMIM:614857
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Obesity, Myocardial infarction OMIM:615703
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred speech, Obesity, Dysm... ORPHA:93952
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Acute kidney injury, Ataxia, Confusion, Crackles, Elevated circulating cre... ORPHA:466650
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Ataxia, Obesity, Telangiectasia, Oculomotor apraxia ORPHA:459033
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Hypothermia, Dysplastic testes, Cryptorchidism, Testicular dysgenes... OMIM:608800
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom... ORPHA:652
Obesity Due To Sim1 Deficiency
Short stature, Hyperinsulinemia, Obesity, Attention deficit hyperactivity disorder, Polyphagia ORPHA:369873
Gaucher Disease, Perinatal Lethal
Akinesia, Progressive neurologic deterioration, Opisthotonus, Seizure, Dysphagia, Decreased body ... OMIM:608013
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Diabetes insipidus, Astrocytosis OMIM:611087
Autoimmune Hypoparathyroidism
Prolonged QT interval, Calcium nephrolithiasis, Confusion, Dyspnea, Depression, Abnormal left ven... ORPHA:36913
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Generalized dystonia, Ataxia, Aggressive behavior, Chorea, Dilated cardiomyopathy, S... OMIM:618321
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Lissencephaly 3
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... OMIM:611603
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Reni Syndrome
Hypertriglyceridemia, Ataxia, Cryptorchidism, Seizure, Hypogonadism, Adrenal insufficiency, Menta... OMIM:617575
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity ORPHA:411515
Cystinosis
Fever, Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Abnormal pyramidal sign, G... ORPHA:213
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Sudden cardiac death, ... OMIM:201475
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Confusion, Cough, Pleural effusion ORPHA:3392
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Deeah Syndrome
Abnormality of temperature regulation, Decreased response to growth hormone stimulation test, Ant... OMIM:619004
Ring Chromosome 21 Syndrome
Bilateral tonic-clonic seizure with generalized onset, Simple febrile seizure, Multiple cafe-au-l... ORPHA:1445
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test OMIM:245590
Intellectual Developmental Disorder, X-Linked 108
Overweight, Broad-based gait, Babinski sign, Difficulty walking OMIM:301024
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Renal Hypoplasia, Bilateral
Hyponatremia, Neonatal respiratory distress, Small for gestational age, Proteinuria, Microscopic ... ORPHA:97362
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Short stature, Splenomegaly, Abnormal limb bone morphology, Abnormality of neuronal... ORPHA:2204
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Polydipsia, Decreased circulating renin level OMIM:613677
Nephrogenic Diabetes Insipidus
Polydipsia, Failure to thrive, Constipation, Anorexia ORPHA:223
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Anorex... ORPHA:199299
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Combined Oxidative Phosphorylation Deficiency 34
Fever, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone concentra... OMIM:617872
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Whipple Disease
Fever, Generalized hyperpigmentation, Ataxia, Cachexia, Anorexia, Abnormal pyramidal sign, Seizur... ORPHA:3452
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Arrhythmia, Gait disturbance ORPHA:2928
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Increased circulating gonadotropin level OMIM:110100
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Supraventricular arrhythmia, Unsteady gait, Limb tre... ORPHA:420492
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Immunodeficiency 54
Lymphoproliferative disorder, Adrenocorticotropic hormone excess, Adrenal insufficiency, Failure ... OMIM:609981
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Clonus, Hypothermia, Focal motor status epilepticus, Rigidity, Focal-onset s... OMIM:614498
Isolated Exencephaly
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes ORPHA:563612
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... OMIM:608758
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... OMIM:615830
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Ataxia, Cardiomyopathy ORPHA:3222
East Syndrome
Salt craving, Ataxia, Generalized-onset seizure, Inability to walk, Seizure, Hyperaldosteronism, ... ORPHA:199343
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Seizure, Incr... ORPHA:1227
Coronary Arterial Fistula
Orthopnea, Abnormal EKG, Continuous heart murmur, Elevated jugular venous pressure, Tachycardia, ... ORPHA:2041
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration ORPHA:101029
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia ORPHA:1827
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Glioblastoma multiforme, Astrocytoma OMIM:619101
Ovarian Fibrothecoma
Ovarian fibroma, Abnormal circulating hormone concentration, Abnormal endometrium morphology, Gon... ORPHA:314478
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Relapsing Fever
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... ORPHA:91547
Porphyria Variegata
Hyponatremia, Tachycardia, Somatic sensory dysfunction, Neurogenic bladder, Abnormal circulating ... ORPHA:79473
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... OMIM:218700
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Ataxia, Tremor, Inability to walk, Primary amenorrhea, Dysmetria, Limb ataxia, M... OMIM:617675
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Tachycardia, Increased urinary glycerol, Intermittent hyperventilation, Epi... ORPHA:348
Wolfram Syndrome 1
Diabetes mellitus, Ataxia, Diabetes insipidus, Tremor, Seizure, Pigmentary retinopathy, Dysphagia... OMIM:222300
Pyruvate Carboxylase Deficiency
Anorexia, Tremor, Tachypnea, Abnormal pyramidal sign, Compulsive behaviors, Hypoglutaminemia, Ata... ORPHA:3008
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Cryptorchidism, Fibular hypopla... OMIM:612447
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Joubert Syndrome 3
Central apnea, Ataxia, Episodic tachypnea, Stage 5 chronic kidney disease, Nephronophthisis, Ocul... OMIM:608629
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Seizure, Adrenal insufficiency, Lethargy, Pancreatitis OMIM:619386
Combined Oxidative Phosphorylation Deficiency 6
Generalized-onset seizure, Involuntary movements, Tetraplegia, Seizure, Tongue fasciculations, Hy... OMIM:300816
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Mitochondrial Complex I Deficiency, Nuclear Type 28
Lower limb spasticity, Generalized-onset seizure, Akinesia, Abnormal pyramidal sign, Choreoatheto... OMIM:618249
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... ORPHA:56304
Secondary Short Bowel Syndrome
Diarrhea, Enterocolitis, Weight loss, Constipation, Vomiting, Steatorrhea, Failure to thrive, Pol... ORPHA:95427
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Spastic Paraplegia 11, Autosomal Recessive
Lower limb spasticity, Ataxia, Impaired distal vibration sensation, Impaired vibration sensation ... OMIM:604360
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Micropenis, Hypospadias, Small pituitary gland OMIM:619479
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... OMIM:202010
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Flynn-Aird Syndrome
Ataxia, Cachexia, Impaired pain sensation, Abnormality of the thyroid gland, Primary adrenal insu... ORPHA:2047
Maternal Hyperthermia-Induced Birth Defects
Clinodactyly of the 5th finger, Intrauterine growth retardation, Short stature, Abnormality of ne... ORPHA:2216
Avian Influenza
Respiratory distress, Pneumonia, Elevated circulating creatine kinase concentration, Productive c... ORPHA:454836
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Polycystic ... OMIM:615363
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Short humerus, Short femur, Rhizomelia, Small for gestational ag... OMIM:607143
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Small for gestational age, Increased serum prostaglandin E2, Polyuria, Renal sa... OMIM:241200
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of the skin, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased ... ORPHA:177907
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Rocker bottom foot, 4-layered lissencephaly, Abnormality of neuronal migration... ORPHA:89844
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Mental deter... OMIM:616840
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Seizure, Hypothermia OMIM:610006
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Spontaneous pneumothorax, Small for gestational ag... OMIM:606721
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Dyspnea, Congestive heart failure, Ventricular t... OMIM:612098
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Small for gestational age, Fractured radius, Decreased fibular diameter, Micrognathi... OMIM:616897
Stiff-Person Syndrome
Tachycardia, Exaggerated startle response, Rigidity, Opisthotonus, Depression, Hypertension, Myoc... OMIM:184850
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Bacterial Toxic-Shock Syndrome
Respiratory distress, Shock, Tachycardia, Sinusitis, Renal insufficiency, Pneumonia, Confusion, E... ORPHA:36234
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Irritability, Falls, Gait... OMIM:601104
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Sporadic Creutzfeldt-Jakob Disease
Gliosis, Astrocytosis ORPHA:204
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov... ORPHA:280356
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Ovarian cyst, Increased circulating cortisol level, Abnormal... ORPHA:562
Mehmo Syndrome
Small for gestational age, Spastic tetraparesis, Inability to walk, Babinski sign, Obesity, Gait ... OMIM:300148
Arthrogryposis Multiplex Congenita 6
Hypospadias, Akinesia OMIM:619334
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Joubert Syndrome With Oculorenal Defect
Encephalocele, Renal insufficiency, Apnea, Ataxia, Hydrocephalus, Tachypnea, Nephropathy ORPHA:2318
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia OMIM:612069
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Hypokinesia, Sensory ataxia OMIM:618184
Familial Dysautonomia
Hyponatremia, Glomerulopathy, Orthostatic hypotension, Tachycardia, Ataxia, Abnormality of the ki... ORPHA:1764
Riboflavin Deficiency
Lethargy, Hypothermia OMIM:615026
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Sepsis In Premature Infants
Tachycardia, Small for gestational age, Abnormal mucociliary clearance, Elevated circulating C-re... ORPHA:90051
Cystinosis, Nephropathic
Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syn... OMIM:219800
Holocarboxylase Synthetase Deficiency
Elevated urinary 3-methylcrotonylglycine level, Tachypnea, Hyperammonemia, Irritability, Organic ... OMIM:253270
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Ventricular tachycard... OMIM:600649
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circu... OMIM:608747
Ppoma
Neoplasm of the pancreas, Subcutaneous lipoma, Elevated circulating growth hormone concentration,... ORPHA:97278
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Incoordination, Elevated circulating creatinine concentrati... OMIM:223900
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Short stature, Cryptorchidism, Abnormality ... OMIM:300957
Congenital Myopathy 12
Small for gestational age, Akinesia OMIM:612540
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive, Tubulointerstitia... OMIM:263000
Acute Interstitial Pneumonia
Crackles, Elevated circulating C-reactive protein concentration, Nonproductive cough, Dyspnea, Ta... ORPHA:79126
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Amenorrhea, Weight loss, Infertility, Erectile ... ORPHA:465508
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Grfoma
Neoplasm of the pancreas, Subcutaneous lipoma, Elevated circulating growth hormone concentration,... ORPHA:97261
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Ataxia, Impaired pain sensation, Unsteady gait, Obesity, Distal sensory impairment, Loss of ambul... OMIM:618124
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Decreased fertility, Fasciculations, Dysphagia, Testicular atrophy OMIM:313200
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Seizure, Polymicrogyria, Akinesia OMIM:225790
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Follicular thyroid carcinoma, E... ORPHA:97282
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Urinary incontinence, Tachypnea, Diaphragmatic paralysis, Respiratory ... OMIM:604320
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Rigidity, Hyperkalemia, Hyperpho... OMIM:145600
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Small for gestational age, Cardiac shunt, Congestive heart failure, Tachypnea, Left ... ORPHA:860
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Multiple Pterygium Syndrome, Lethal Type
Malignant hyperthermia, Akinesia OMIM:253290
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Small for gestational age, Increased serum prostaglandin E2, Polyuria, Renal sa... OMIM:601678
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia OMIM:201400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretio... ORPHA:505248
Meningococcal Meningitis
Fever, Hypothermia, Anorexia, Seizure, Paresthesia, Lethargy ORPHA:33475
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Seckel Syndrome 7
Hypoplasia of the uterus, Central hypothyroidism OMIM:614851
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Abnormal renal tubule morphology, Myocarditis, Oliguria, Cardi... ORPHA:188
Spastic Paraplegia 47, Autosomal Recessive
Waddling gait, Overweight, Inability to walk, Babinski sign, Spastic paraplegia, Hypertonia, Spas... OMIM:614066
Hemimegalencephaly
Gray matter heterotopia, Gliosis, Pachygyria, Polymicrogyria, Abnormal neuron morphology ORPHA:99802
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Anterior hypopituitarism, Hypohidrosis ORPHA:181
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia, Agitation, Micropenis OMIM:613870
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Ble... ORPHA:306674
Mitochondrial Dna-Associated Leigh Syndrome
Abnormal renal tubule morphology, Multiple glomerular cysts, Apnea, Ataxia, Cardiac conduction ab... ORPHA:255210
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
16P12.1P12.3 Triplication Syndrome
Nail-biting, Hyperactivity, Tachycardia, Attention deficit hyperactivity disorder, Skin-picking, ... ORPHA:485405
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Dilated cardiomyopathy, Hydronephrosis, Akinesia OMIM:607598
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia, Congestive heart failure, Exertional dyspnea, Increased tota... ORPHA:90037
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... ORPHA:96181
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Elevated circulating growth hor... ORPHA:97283
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Posterior pituitary hypoplasia, Abnormality of the anterior pituitary ORPHA:75389
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... OMIM:147750
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Muscular Dystrophy, Duchenne Type
Waddling gait, Hypoventilation, Abnormal EKG, Elevated circulating creatine kinase concentration,... OMIM:310200
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Hydranencephaly
Thalamic edema, Spastic diplegia, Opisthotonus, Seizure, Lethargy, Dysgenesis of the thalamus, At... ORPHA:2177
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Right ventricular failure, Increased pulmonary vascular resistance, Nonp... ORPHA:60025
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Mitochondrial Complex I Deficiency, Nuclear Type 13
Generalized dystonia, Apnea, Cardiac arrest, Spasticity, Irritability, Bradycardia, Hypertrophic ... OMIM:618235
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Reduced left ventricular ejection fract... OMIM:616501
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity OMIM:617885
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Lethargy, Hyperpigmentation of the skin,... OMIM:602390
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Hyperactivity, Cerebral palsy, Intermittent hyperventilation, Ataxia, Aggr... ORPHA:163681
Dopamine Beta-Hydroxylase Deficiency
Retrograde ejaculation, Hyperinsulinemia, Hypothermia ORPHA:230
Coenzyme Q10 Deficiency, Primary, 5
Seizure, Hypertonia, Hypothermia OMIM:614654
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia OMIM:609425
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Lead Poisoning
Somatic sensory dysfunction, Decreased female libido, Small for gestational age, Anorexia, Abnorm... ORPHA:330015
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Symmetrical Thalamic Calcifications
Failure to thrive, Abnormality of neuronal migration ORPHA:1314
Polyembryoma
Fever, Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Neoplasm of... ORPHA:180229
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Abnormal posturing OMIM:304700
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypothermia, Hyperhidrosis OMIM:245400
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Small for gestational age, Anterior pituitary hypoplasia, Hypospadias, Cryptorchid... ORPHA:464306
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Pulmonary arterial hypertension, Tachypnea, Hypertension OMIM:613320
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal repetitiv... OMIM:618917
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hypoplastic ilia, H... ORPHA:93333
Dpagt1-Cdg
Epileptic spasm, Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Focal motor se... ORPHA:86309
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ... OMIM:606407
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Atrial fibrillation, Proteinuria, Recurrent urinary tract infections, Dysuri... ORPHA:976
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short attention span, Abnormal mitochondrial shape, Hypospadias, Hypothermia, Aggressive behavior... ORPHA:17
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Hypertriglyce... ORPHA:567548
Joubert Syndrome
Encephalocele, Apnea, Episodic tachypnea, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculom... ORPHA:475
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171420
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia, Progressive neurologic deterioration, Myoclonic seizure, Bile duct proliferation, Sp... OMIM:618329
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:615866
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom... OMIM:605373
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Uterus didelphys ORPHA:1756
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... ORPHA:79414
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Nausea ORPHA:231580
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Cardiomyopathy, Dilated, 2H
Reduced left ventricular ejection fraction, Tachypnea, Cardiorespiratory arrest OMIM:620203
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Hyperalaninemia, Ketonuria, Hypoargininemia, Hyperglutami... OMIM:615751
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypopigmente... ORPHA:3143
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... OMIM:210710
Familial Cold Urticaria
Polydipsia ORPHA:47045
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Premature ovarian insufficiency, Female hypogonadism, Cholelithiasis, Decreas... OMIM:240300
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Small for gestational age, Episodic tachypnea, Hyperammonemia, Elevated... OMIM:615160
Encephalitis Lethargica
Urinary incontinence, Parkinsonism, Tremor, Bradycardia, Mental deterioration, Lethargy, Hyperven... ORPHA:83600
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:604213
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Malignant Hyperthermia Of Anesthesia
Hypercapnia, High-output congestive heart failure, Myoglobinuria, Tachypnea, Ventricular tachycar... ORPHA:423
Joubert Syndrome 9
Encephalocele, Apnea, Episodic tachypnea, Stage 5 chronic kidney disease, Oculomotor apraxia OMIM:612285
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Ureteral stenosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxem... ORPHA:2257
Bardet-Biedl Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Pigmentary retinopathy, Hypoplasia of the ovary, Hy... ORPHA:110
Marchiafava-Bignami Disease
Fever, Ataxia, Confusion, Aggressive behavior, Rigidity, Abnormal pyramidal sign, Gait ataxia, He... ORPHA:221074
Laurence-Moon Syndrome
Spastic paraplegia, Ataxia, Obesity OMIM:245800
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Anorexia, Paroxysmal atrial tachycardia, Congestive heart failure, Paresthesia, L... ORPHA:49827
Intellectual Developmental Disorder, Autosomal Recessive 46
Ataxia, Large for gestational age OMIM:616116
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Loss of ambulation, Self-mutilation of tongue and lips ... ORPHA:2388
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Urinary incontinence, Involuntary movements, Depression, Attention deficit h... ORPHA:98784
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Aspiration pneumoni... ORPHA:845
Lujo Hemorrhagic Fever
Respiratory distress, Shock, Resting tremor, Renal insufficiency, Confusion, Crackles, Elevated c... ORPHA:319213
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Anorexia, Increa... ORPHA:85138
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia, Increased total bilirubin, Exertional dyspnea ORPHA:90036
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Increased serum t... ORPHA:247768
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Hereditary Sensory And Autonomic Neuropathy Type 4
Anhidrosis, Pain insensitivity, Somatic sensory dysfunction, Nail-biting, Unexplained fevers, Hyp... ORPHA:642
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria... OMIM:607155
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Periodic paralysis, Tremor, Weight loss, Hypokalemia OMIM:613239
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Elevated circulating growth hor... ORPHA:97280
8P23.1 Duplication Syndrome
Adrenal insufficiency, Exostoses ORPHA:251076
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Primary Erythromelalgia
Leukemia, Hypothermia ORPHA:90026
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Hypothermia, Inability to walk, Unsteady gait, Obes... OMIM:618493
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Hypoplastic labia majora, Hypoplasia of the uteru... OMIM:618419
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Methionine Malabsorption Syndrome
Aminoaciduria, Tachypnea, Positive ferric chloride test OMIM:250900
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Periodic paralysis, Weight loss, Hypokalemia, Palpitations OMIM:188580
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Progressive neurologic deterioration, Tre... OMIM:614947
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Le... ORPHA:1359
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Short femur, Inguinal hernia, Metaphyseal spurs, Patent ductus arteriosus, F... OMIM:618188
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Nonproductive cough, Hypoalbuminemi... ORPHA:99826
Wolfram Syndrome
Diabetes mellitus, Ataxia, Seizure, Dementia, Hypogonadism, Delayed puberty, Male hypogonadism, P... ORPHA:3463
Joubert Syndrome 2
Central apnea, Encephalocele, Renal insufficiency, Ataxia, Episodic tachypnea, Hydrocephalus, Ren... OMIM:608091
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... ORPHA:672
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Tremor, Inability to walk, Babinski sign, Blepharospasm, Hypertonia, Abnormal posturing OMIM:128100
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Aggressive behavior, Clumsiness, Tongue fasciculations, Dysphagia, Hypokinesia OMIM:614707
Severe X-Linked Mitochondrial Encephalomyopathy
Involuntary movements, Tongue fasciculations, Hypokinesia ORPHA:238329
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Hyp... OMIM:235200
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Apneic episodes in infancy, Episodic tachypnea, Dysphagia ORPHA:163961
Menkes Disease
Epileptic spasm, Hypothermia, Babinski sign, Seizure, Hypertonia, Hypopigmentation of the skin OMIM:309400
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Speech apraxia, Ataxia, Anterior pituitary hypoplasia, Supernumerary nipple, Aggressive behavior,... ORPHA:466791
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m... OMIM:100800
Angelman Syndrome
Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Gastroeso... ORPHA:72
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ... ORPHA:93101
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Increased connective tissue, Pachygyria, Flexion contracture, Astrocytosis, Lissencephaly, Dyspha... ORPHA:258
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal... OMIM:617695
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Parkinsonism, Sensory ataxia, Depression, Cardiomyopathy, Dementia, Gait disturbance, Bradycardia... OMIM:609286
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow con... OMIM:617201
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bilateral vocal cord paresis, Neonatal respiratory distress, Tachycardia, Apnea, Retinal hemorrha... OMIM:614653
Poems Syndrome
Diabetes mellitus, Lymphoproliferative disorder, Hyperpigmentation of the skin, Abnormality of th... ORPHA:2905
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Memory impairment, Seizure, Addictive alcohol use, Cognitiv... ORPHA:90065
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Overweight, Obesity, Mitral regurgitation, Pulmonary arterial hypertension OMIM:614651
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness, Depression, Astrocytosis ORPHA:100070
Lipoyltransferase 1 Deficiency
Spastic tetraparesis, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Abnormality... OMIM:616299
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... ORPHA:769
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyp... ORPHA:143
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:615184
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Myocardial infarction, Overweight, Tremor, Hyperkinetic movements, Upper limb spasticity, Gait di... ORPHA:457240
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hypertonia, Gait distur... ORPHA:309854
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Teratoma, Pineal
Hemiparesis, Polydipsia, Polyuria OMIM:273120
Biotinidase Deficiency
Apnea, Ataxia, Tachypnea, Hyperammonemia, Organic aciduria, Lethargy OMIM:253260
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Spondyloepiphyseal Dysplasia Congenita
Short femur, Micrognathia, Abnormal foot morphology, Disproportionate short-trunk short stature, ... ORPHA:94068
Man1B1-Cdg
Periventricular heterotopia, 2-3 toe syndactyly, Truncal obesity, Clinodactyly of the 5th finger,... ORPHA:397941
Cap Myopathy
Reduced systolic function, Central hypoventilation, Fatiguable weakness of proximal limb muscles,... ORPHA:171881
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Ataxia, Unsteady gait, Obesity, Fasciculations, Difficulty ... ORPHA:464282
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... OMIM:619747
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology ORPHA:3411
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Waddling gait, Respiratory ... ORPHA:98915
Andersen-Tawil Syndrome
Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi... ORPHA:37553
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Danon Disease
Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Congestive he... OMIM:300257
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity, Infertility, Oligomenorrhea OMIM:604931
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Abnormal urinary color, Exertional dyspnea ORPHA:90033
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Micrognathia, Tibial bowing, Clinodactyly of the 5th finger, Self-mutilation, Broad hallux, Crypt... ORPHA:251028
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... OMIM:613090
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Joubert Syndrome 1
Central apnea, Hyperactivity, Hemifacial spasm, Ataxia, Episodic tachypnea, Aggressive behavior, ... OMIM:213300
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Cryptorchidism, Patent... OMIM:206900
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response, Ataxia, Urinary incontinence, Impaired tem... OMIM:268800
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
14Q22Q23 Microdeletion Syndrome
Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of ... ORPHA:264200
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Patent ductus arteriosus, Small for gestational age, Hypokinesia OMIM:610498
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Diabetes mell... OMIM:608594
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Broad-based gait, Increased body weight OMIM:614450
German Syndrome
Ambiguous genitalia, Cryptorchidism, Hypokinesia, Dysphagia ORPHA:2077
Kearns-Sayre Syndrome
Hypoparathyroidism, Diabetes mellitus, Ataxia, Primary adrenal insufficiency, Seizure, Pigmentary... OMIM:530000
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Anorexia, Increased circulating ACTH level, Pu... ORPHA:97287
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Somatic sensory dysfunction, Brain neoplasm, Metrorrhagia, Torticollis,... ORPHA:370348
Weaver Syndrome
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... OMIM:277590
Mitochondrial Complex I Deficiency, Nuclear Type 10
Broad-based gait, Ataxia, Apnea, Central hypoventilation, Dysmetria, Respiratory failure, Dysphagia OMIM:618233
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Short femur, Foot oligodactyly, Amelia OMIM:601357
Steinert Myotonic Dystrophy
Brain neoplasm, Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia,... ORPHA:273
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Polydipsia, Failure to thrive, Decreased circulating a... ORPHA:320
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Myelodysplasia, Adrenal hypoplasia, Cryptorchidism, ... OMIM:617053
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Bruxism, Gait disturbance, Agitation, Dystonia, Recurrent hand flapping, Hyperventilation OMIM:617903
Double Outlet Right Ventricle
Tachycardia, Tachypnea, Heart murmur, Hypocalcemia, Pulmonic stenosis, Failure to thrive ORPHA:3426
Myotonic Dystrophy 1
Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy OMIM:160900
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:610829
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyp... ORPHA:99880
Joubert Syndrome 5
Central apnea, Occipital encephalocele, Ataxia, Episodic tachypnea, Aggressive behavior, Impaired... OMIM:610188
Cebalid Syndrome
Polymicrogyria, Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Hypothermia, Infantile spasms, Poor fine motor coordination, Memory impairment, Seizure, ... ORPHA:79282
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Micrognathia, Periventricular heterotopia, Simplified gyral pattern, Talipes equin... OMIM:616171
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Short stature, Pachygyria, Achilles tendon contracture, Elbow flexion contracture, Abnormality of... OMIM:608840
3-Hydroxyisobutyric Aciduria
Failure to thrive, Abnormality of neuronal migration OMIM:236795
Alstrom Syndrome
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... OMIM:203800
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Palpitations, Hypertrophi... OMIM:613873
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Dy... OMIM:609040
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... ORPHA:99827
Myoclonus-Dystonia Syndrome
Torticollis, Depression, Myoclonus, Compulsive behaviors, Spinal myoclonus, Limb myoclonus ORPHA:36899
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Lipodystrophy... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati... OMIM:613327
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Obesity, Tetraplegia, Oculomotor a... OMIM:616267
Colchicine Poisoning
Respiratory distress, Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, H... ORPHA:31824
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613424
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Erdheim-Chester Disease
Fever, Ataxia, Hypogonadotropic hypogonadism, Weight loss, Hyperhidrosis, Xanthelasma, Polydipsia... ORPHA:35687
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Arthrogryposis Multiplex Congenita 5
Hypertonia, Akinesia, Hand tremor OMIM:618947
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Confusion, Primary adrenal insufficiency, Se... ORPHA:261476
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Pain insensitivity, Incoordination, Ataxia, Confusion, Slurre... ORPHA:90062
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... ORPHA:309246
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Decreased female libido, Salt craving, Adrenal hypoplasia, ... ORPHA:95409
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Hypospadias, Episodic tachypnea, Micropenis ORPHA:2872
Combined Oxidative Phosphorylation Deficiency 1
Seizure, Spasticity, Hypertonia, Hypokinesia OMIM:609060
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Attention deficit hyperactivi... ORPHA:300573
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Trisomy 18P
Short stature, Micrognathia, Bilateral cryptorchidism, Abnormal foot morphology, Abnormal finger ... ORPHA:1715
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Small for gestational age, Hypothermia OMIM:618775
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:98853
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... OMIM:301029
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Few cafe-au-lait spots, Broad-based gait, Decreased response to growth hormone stimulation test, ... OMIM:619503
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Delayed puberty, Breas... OMIM:181450
Neonatal Adrenoleukodystrophy
Seizure, Primary adrenal insufficiency, Abnormality of neuronal migration, Abnormality of retinal... ORPHA:44
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Dyspnea, Vocal ... OMIM:211530
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Dyspnea, Congestive heart failure, Oliguria, Dys... ORPHA:220393
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Ataxia, Small for gestational age, Ketonuria, Hypospadias, Tremor, Tachypnea, Dysmetria... OMIM:220111
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Ataxia, Babinski sign, Adrenocorticotropin receptor defect,... OMIM:231550
Baralle-Macken Syndrome
Inability to walk, Spasticity, Obesity OMIM:619255
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Intellectual Developmental Disorder, Autosomal Dominant 1
Short palm, Sandal gap, Short stature, Aggressive behavior, Micrognathia, Postnatal growth retard... OMIM:156200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypoma... OMIM:618183
Wolman Disease
Fever, Adrenal calcification, Cachexia, Adrenal insufficiency, Steatorrhea ORPHA:75233
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegi... OMIM:617864
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Babinski sign, Spastic tetraparesis OMIM:614924
Intermediate Nemaline Myopathy
Hypokinesia, Difficulty walking, Dysphagia ORPHA:171433
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Finger clinodactyly, Tics, L... ORPHA:508488
Muscular Hypertonia, Lethal
Hypertonia, Hypokinesia OMIM:254120
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Apnea, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hyperton... OMIM:618056
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:98863
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Fetal Akinesia Syndrome, X-Linked
Hypokinesia OMIM:300073
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Gait disturbance, Increased body weight, Hand tremor ORPHA:589905
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... ORPHA:57777
Seckel Syndrome 10
Microretrognathia, Acute pancreatitis, Severe short stature, Diabetes mellitus, Elevated hemoglob... OMIM:617253
Pheochromocytoma
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171300
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation, Seizure, Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:203700
Alg11-Cdg
Ataxia, Opisthotonus, Gray matter heterotopia, Seizure, Hypertonia, Temperature instability, Fail... ORPHA:280071
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micromelia, Micrognathia, Ingui... OMIM:613848
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Hypertriglyce... ORPHA:528
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Small for gestational age, Apnea, Ataxia, Aggressive behavior, Inability t... OMIM:617799
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Poly... OMIM:617671
Rhombencephalosynapsis
Fusion of the left and right thalami, Abnormality of the uterus ORPHA:59315
Infantile Nephropathic Cystinosis
Failure to thrive, Constipation, Polydipsia, Vomiting ORPHA:411629
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Gliosis, Compulsive behaviors... OMIM:615873
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Exaggerated startle response, Ataxia, Clonus, Irritability, Hypertonia, Sp... OMIM:616881
Xq21 Microdeletion Syndrome
Ataxia, Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone defici... ORPHA:1435
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Cryptorchidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:101800
Methanol Poisoning
Confusion, Hyperlipidemia, Seizure, Addictive alcohol use, Type II diabetes mellitus, Type I diab... ORPHA:31825
Eisenmenger Syndrome
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... ORPHA:97214
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Failure to thrive OMIM:264350
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Abnormality of the uterus OMIM:617805
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Elevated circulating creatine kinase concentration, Sudden cardiac death, Dyspnea, D... OMIM:614921
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, P... OMIM:604367
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Congenital Fibrinogen Deficiency
Tachycardia, Micropenis, Internal hemorrhage, Opisthotonus ORPHA:335
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Lig4 Syndrome
Small for gestational age, Myelodysplasia, Cryptorchidism, Acute lymphoblastic leukemia, Type II ... OMIM:606593
Omodysplasia 2
Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasia, Micropenis OMIM:164745
Periventricular Nodular Heterotopia 1
Syndactyly, Patent ductus arteriosus, Abnormality of neuronal migration, Gray matter heterotopia,... OMIM:300049
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea, Ataxia, Renal hypoplasia/aplasia, Tremor, Renal agenesis, Gait disturb... ORPHA:2754
Developmental And Epileptic Encephalopathy 28
Rigidity, Simplified gyral pattern, Seizure, Status epilepticus, Spasticity, Hypokinesia OMIM:616211
Desmosterolosis
Severe short stature, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Splenomegaly, Pachy... ORPHA:35107
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Tachypnea, Telangiecta... OMIM:615934
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Obesity, Myocardial infarction OMIM:618620
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, D... OMIM:272750
Plague
Respiratory distress, Tachycardia, Anorexia, Hematemesis, Unsteady gait, Slurred speech, Depressi... ORPHA:707
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Hyperpigmentation of the ski... ORPHA:231226
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Achilles tendon contracture, Pachygyria ORPHA:370980
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Renal insufficiency, Apnea, Hypospadias, Tachypnea, Meningocele, Renal c... ORPHA:397715
Renal Tubular Dysgenesis
Anuria, Respiratory insufficiency, Abnormality of the urinary system, Hypotension, Renotubular dy... OMIM:267430
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Luscan-Lumish Syndrome
Polyphagia, Obesity, Aggressive behavior OMIM:616831
Peroxisome Biogenesis Disorder 4B
Ataxia, Seizure, Gait disturbance, Adrenal insufficiency, Recurrent fever OMIM:614863
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... OMIM:300770
Hyperekplexia 3
Exaggerated startle response, Apnea, Hypertonia, Syncope, Myoclonus, Respiratory arrest OMIM:614618
Lassa Fever
Shock, Cough, Dyspnea, Oliguria, Dysphagia ORPHA:99824
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Lesch-Nyhan Syndrome
Opisthotonus, Choreoathetosis, Self-injurious behavior, Seizure, Abnormality of extrapyramidal mo... OMIM:300322
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Cafe-au-lait spot, Hypogonadism, Adrenal insufficiency, Abnormality of the hypothala... ORPHA:300298
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... OMIM:611705
Poliomyelitis
Fever, Confusion, Anorexia, Paralysis, Diminished movement, Inability to walk, Paraparesis, Hyper... ORPHA:2912
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Short attention span, Broad-based gait, Exaggerated startle response, Ataxi... ORPHA:438216
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Wild Type Attr Amyloidosis
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... ORPHA:330001
Zellweger Syndrome
Hypospadias, Brushfield spots, Cryptorchidism, Primary adrenal insufficiency, Seizure, Cognitive ... ORPHA:912
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Sinusitis, Renal insufficiency, Epista... ORPHA:727
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Hypoplastic vertebral bodies, Hepatic stea... ORPHA:3455
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Chordee, Failure to thrive OMIM:151050
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Micromelia, Cryptorchidism, Abnormality of neuronal migration, Disproportionate short-limb short ... ORPHA:2772
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Obesity, Increased circulating ACTH level, Abdominal obesity, Oligomenorrhea OMIM:219090
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Graft Versus Host Disease
Tachycardia, Pneumonia, Irritability, Hyperbilirubinemia, Failure to thrive ORPHA:39812
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology ORPHA:314621
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short stature, Micrognathia, Aggressive behavior, Coxa valga, Periventricular heterotopia, Self-i... OMIM:619833
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diab... ORPHA:435651
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
Joubert Syndrome 17
Oculomotor apraxia, Abnormal renal morphology, Ataxia, Hyperventilation OMIM:614615
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ... ORPHA:71273
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Tachypnea, Ketonuria OMIM:245050
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... OMIM:615577
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Cryptorchidism, Genu valgum, Growth delay, Irritability OMIM:617798
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dila... ORPHA:98855
Familial Hypoaldosteronism
Adrenal insufficiency, Increased circulating renin level, Lethargy, Failure to thrive, Decreased ... ORPHA:427
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypoventilation, Hyponatremia, Renal insufficiency, Spontaneous pneu... ORPHA:731
Joubert Syndrome 8
Occipital encephalocele, Ataxia, Obesity, Hypertonia, Oculomotor apraxia, Hyperventilation OMIM:612291
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Chronic pancreatitis,... OMIM:307030
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Increased circ... OMIM:177735
Gitelman Syndrome
Respiratory distress, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephr... ORPHA:358
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosi... OMIM:602080
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Flexion contracture, Hypoplasia of the thymus, Genu varum, Long toe, Short stature,... OMIM:264090
Acalvaria
Omphalocele, Postaxial hand polydactyly, Talipes, Abnormality of neuronal migration ORPHA:945
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Short femur, Inguinal hernia, Micrognathia, Postnatal growth ret... OMIM:616145
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diab... ORPHA:79085
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Hyperpigmentation of the ski... ORPHA:231214
Edinburgh Malformation Syndrome
Micrognathia, Long fingers, Abnormality of neuronal migration, Ulnar deviation of finger, Failure... ORPHA:1895
Combined Oxidative Phosphorylation Deficiency 57
Apnea, Left ventricular noncompaction cardiomyopathy, Central hypoventilation, Cardiac arrest, Sm... OMIM:620167
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Gait disturbance, Inappropriate laughter, Abnormal repetitive mannerisms, ... OMIM:614104
Distal Renal Tubular Acidosis
Diarrhea, Constipation, Vomiting, Polydipsia, Failure to thrive ORPHA:18
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Reticular hyperpigmentation, Bilateral tonic-clonic seizure OMIM:618165
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis, Pseudohypoaldosteronism OMIM:145260
Wilson Disease
Hypoparathyroidism, Poor motor coordination, Tremor, Hypoesthesia, Rigidity, Hand tremor, Seizure... OMIM:277900
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Pparg-Related Familial Partial Lipodystrophy
Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Maternal diabetes, Insulin-resistant diabe... ORPHA:79083
Morgagni-Stewart-Morel Syndrome
Hypertension, Obesity, Action tremor ORPHA:77296
Oligomeganephronia
Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Glomerulo... ORPHA:2260
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Obesity OMIM:615981
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation, Frequent falls, Impaired pain sensation, Inability to walk, Impaired distal vibr... ORPHA:99949
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation OMIM:619483
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Spastic Tetraplegia And Axial Hypotonia, Progressive
Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,... OMIM:618598
D-Glyceric Aciduria
Neonatal respiratory distress, Tongue thrusting, Nonketotic hyperglycinemia, Spastic tetraplegia,... OMIM:220120
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea OMIM:184700
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis OMIM:611812
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Ataxia, Parkinsonism, Overweight, Inability to walk, Paraparesis, Obesit... ORPHA:2822
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Speech apraxia, Large for gestational age, Overgrowth, Pulmonic stenosis, Tall stature ORPHA:137634
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hypokinesia OMIM:310400
Aortic Arch Interruption
Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substa... ORPHA:2299
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Portal hypertension, Aggressive behavior... ORPHA:84081
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F... OMIM:610921
Biotinidase Deficiency
Respiratory distress, Apnea, Ataxia, Myelopathy, Hyperammonemia, Organic aciduria, Spastic parapa... ORPHA:79241
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Childhood Absence Epilepsy
Urinary incontinence, Depression, Punding, Attention deficit hyperactivity disorder, Limb myoclon... ORPHA:64280
Lissencephaly 6 With Microcephaly
Tapered finger, Periventricular heterotopia, Simplified gyral pattern, Microlissencephaly, Lissen... OMIM:616212
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Short stature, Abnormal dental enamel morphology, Obesity, Delayed puberty, Episodic ... ORPHA:251004
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, Fle... ORPHA:90324
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure, Hypokinesia OMIM:249650
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Dysgyria ORPHA:352682
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diab... ORPHA:435660
Adrenomyodystrophy
Seizure, Generalized hyperpigmentation, Failure to thrive, Primary adrenal insufficiency ORPHA:977
Melas
Wolff-Parkinson-White syndrome, Nephropathy, Abnormal central motor function, Ataxia, Dilated car... ORPHA:550
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Typical Nemaline Myopathy
Waddling gait, Elevated circulating creatine kinase concentration, Fatigable weakness of distal l... ORPHA:171436
Autosomal Recessive Primary Microcephaly
Growth delay, Gray matter heterotopia, Pachygyria, Short stature ORPHA:2512
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Irregular menstruation... OMIM:615238
Chilton-Okur-Chung Neurodevelopmental Syndrome
Hypospadias, Anterior pituitary hypoplasia, Aggressive behavior, Cryptorchidism, Patent ductus ar... OMIM:619841
Hypomelanosis Of Ito
Syndactyly, Gray matter heterotopia, Hand polydactyly, Radial deviation of finger, Clinodactyly OMIM:300337
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... OMIM:613243
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Thanatophoric Dysplasia
Micromelia, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Gray matter heterotop... ORPHA:2655
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Brain Small Vessel Disease 2
Growth delay, Subcortical heterotopia, Polymicrogyria OMIM:614483
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia, Hypertonia, Aspiration OMIM:272800
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Somatic sensory dysfunction, Ataxia, Hypohidrosis, Adrenal insufficiency, Dysphagia, Spasticity OMIM:615510
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... ORPHA:699
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Cholelithiasis, Hypot... ORPHA:231222
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Seizure, Failure to thrive, Hypothermia, Hepatocellular necrosis OMIM:251880
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hype... ORPHA:522077
Absence Of The Pulmonary Artery
Orthopnea, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Nonproductive... ORPHA:980
Myasthenic Syndrome, Congenital, 20, Presynaptic
Hypoventilation, Apnea, Stridor, Fatigable weakness, Dysphagia OMIM:617143
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of the knee, Inguinal hernia, Congenital diaphragmatic hernia, Lower limb asymmetry, ... ORPHA:2063
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Polydipsia, Weight loss, Dysphagia ORPHA:537
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... OMIM:187600
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Elevated circula... ORPHA:94089
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Small for gestationa... ORPHA:555874
Imerslund-Gräsbeck Syndrome
Tachycardia, Failure to thrive, Proteinuria, Weight loss ORPHA:35858
Fragile X Syndrome
Macroorchidism, postpubertal, Pes planus, Hyperactivity, Periventricular heterotopia, Self-biting... OMIM:300624
7Q11.23 Microduplication Syndrome
Pes planus, Collectionism, Hyperactivity, Short stature, Inguinal hernia, Congenital diaphragmati... ORPHA:96121
Adnp Syndrome
Inguinal hernia, Broad hallux, Sandal gap, Short stature, Aggressive behavior, Oral-pharyngeal dy... ORPHA:404448
Autoimmune Polyendocrinopathy Type 4
Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Xerostomia, Anterior pituitary dys... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Xer... ORPHA:227982
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:881
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete... OMIM:241080
Rh Deficiency Syndrome
Tachycardia, Tachypnea, Hypoxemia, Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Apnea, Rigidity, Babinski sign, Abnormal pyramidal sign, Respirator... OMIM:617527
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Exaggerated startle response, Clonus, Myoclonus, Spasticity, Failure to thrive OMIM:618201
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Micrognathia, Knee flexion contracture, Gray matter heterotopia, Camptoda... OMIM:619694
Sarcoidosis
Fever, Hypopigmentation of the skin, Hyperthyroidism, Diabetes insipidus, Hyperpigmentation of th... ORPHA:797
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Pes planus, Short stature, Monkey wrench femoral neck, Micromelia, Periventric... OMIM:618870
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Thanatophoric Dysplasia Type 2
Short stature, Micromelia, Patent ductus arteriosus, Abnormality of neuronal migration, Abnormal ... ORPHA:93274
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Vici Syndrome
Hypopigmentation of hair, Albinism, Ocular albinism, Gray matter heterotopia, Seizure, Abnormal t... OMIM:242840
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Crackles, Cylindruria, Macroscopic hematuri... OMIM:233450
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Obesity OMIM:600151
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... OMIM:232300
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Diabetes mellitus, Aplasia/Hypopl... ORPHA:93111
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Pitt-Hopkins-Like Syndrome 2
Broad-based gait, Pulmonic stenosis, Hyperventilation OMIM:614325
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Elevated circulating creatine kinase concentration, Respiratory failure, ... OMIM:603689
Congenital Enterovirus Infection
Fever, Hypothermia ORPHA:292
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Distal Deletion 13Q
Ambiguous genitalia, Hypertonia, Primary adrenal insufficiency, Cognitive impairment ORPHA:1590
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Abdominal obesity, Truncal obesity, Myocardial infarction OMIM:615812
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Portal hypertension, Splenomegaly, ... ORPHA:1454
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Degcags Syndrome
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Vocal cord paralysis, Hypospadias, Abnorma... OMIM:619488
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gray matter heterotopia, Gonadal dys... OMIM:618820
Hyperthyroidism, Nonautoimmune
Hyperactivity, Tachycardia, Small for gestational age, Increased circulating thyroglobulin level OMIM:609152
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Lissencephaly 5
Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly OMIM:615191
Radio-Tartaglia Syndrome
Pes planus, Impulsivity, Aggressive behavior, Micrognathia, Tapered finger, Precocious puberty, O... OMIM:619312
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Pneumonia, Myocarditis, Dyspnea, Hyperkalemia, Oliguria, Hemiparesis, Hyper... ORPHA:544482
Prune Belly Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Abnormality of the uterus, Decreased testicular siz... ORPHA:2970
Wilson Disease
Abnormality of the menstrual cycle, Aggressive behavior, Hypersexuality, Increased body weight, W... ORPHA:905
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Epileptic spasm, Streak ovary, Failure to thrive in infancy, Nephroblast... ORPHA:798
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Urinary incontinence, Dysphagia, Sinus bradycardia, Hypopnea, Restrictive... OMIM:619482
Leopard Syndrome 1
Hypospadias, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Multiple lentigines, Aplasia of... OMIM:151100
Zttk Syndrome
Aortic regurgitation, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Spasticity, Failure ... OMIM:617140
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Short femur, Short stature, Talipes, Micrognathia, Patent ductus arteriosus, Elliptoc... OMIM:300990
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Li-Ghorbani-Weisz-Hubshman Syndrome
Overlapping toe, Periventricular heterotopia, Patent ductus arteriosus, Attention deficit hyperac... OMIM:618974
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
3C Syndrome
Finger syndactyly, Inguinal hernia, Short stature, Adrenal hypoplasia, Missing ribs, Micrognathia... ORPHA:7
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Elevated urinary catecholamine level, Renal cell carcinoma, Palpitations, Hypertensi... OMIM:115310
Intellectual Developmental Disorder, Autosomal Dominant 57
Tip-toe gait, Compulsive behaviors, Attention deficit hyperactivity disorder, Frequent temper tan... OMIM:618050
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore... OMIM:619580
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Hypertension, Arrhythmia ORPHA:139411
Ogden Syndrome
Global glomerulosclerosis, Torticollis, Apnea, Abnormal repetitive mannerisms, Ventricular tachyc... OMIM:300855
Necrotizing Enterocolitis
Shock, Hyponatremia, Apnea, Small for gestational age, Bradycardia, Hypotension, Lethargy ORPHA:391673
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Congenital Disorder Of Glycosylation, Type Iu
Seizure, Hypokinesia OMIM:615042
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Congenital Myopathy 3 With Rigid Spine
Reduced vital capacity, Restrictive ventilatory defect, Nocturnal hypoventilation, Decreased body... OMIM:602771
Matthew-Wood Syndrome
Cryptorchidism, Annular pancreas, Abnormality of the uterus, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking ORPHA:100924
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Short stature, Tapered finger, Irritability, Dysphagia OMIM:618367
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory insufficiency, Tetraplegia, Irritability, Respiratory failure, Myoclonus, ... OMIM:618278
1P36 Deletion Syndrome
Abnormality of the spleen, Abnormality of the liver, Clinodactyly of the 5th finger, Hepatic stea... ORPHA:1606
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension, Weight loss ORPHA:98849
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus, Polycystic kidney dysplasia OMIM:263210
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Acute Monoblastic/Monocytic Leukemia
Weight loss, Oliguria, Anorexia, Exertional dyspnea ORPHA:514
Peroxisome Biogenesis Disorder 2B
Seizure, Adrenal insufficiency OMIM:202370
Proximal Renal Tubular Acidosis
Failure to thrive, Diarrhea, Polydipsia, Vomiting ORPHA:47159
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension, Central hypoventilation ORPHA:251992
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Adrenal calcification, Adrenal insufficiency, Steatorrhea, Hypercholesterol... OMIM:278000
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Rigidity, Respiratory insufficiency, Myoclonus, Failure to thrive OMIM:300673
Rajab Interstitial Lung Disease With Brain Calcifications 1
Recurrent urinary tract infections, Small for gestational age, Portal hypertension, Tachypnea, Re... OMIM:613658
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia OMIM:191830
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus OMIM:620306
Congenital Myopathy 21 With Early Respiratory Failure
Elevated circulating creatine kinase concentration, Dyspnea, Respiratory failure, Nocturnal hypov... OMIM:620326
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea, Hypertension OMIM:613834
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Stiff Person Spectrum Disorder
Exaggerated startle response, Rigidity, Falls, Difficulty walking, Emotional lability ORPHA:3198
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Hepatomegaly, Elevated hepatic transaminase, Tapered toe, Elevated circulating aspartat... OMIM:608836
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Dysphagia OMIM:617008
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia, Hypercapnia OMIM:601887
Menkes Disease
Hypopigmentation of hair, Hypothermia, Chorea, Seizure, Hypertonia, Spasticity, Exostoses ORPHA:565
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Renal cyst, Hypoplasia of t... OMIM:137920
Bohring-Opitz Syndrome
Syndactyly, Overlapping toe, Short stature, Supernumerary nipple, Tapered finger, Micrognathia, M... OMIM:605039
Myasthenia Gravis
Hyperthyroidism, Primary adrenal insufficiency, Seizure, Abnormal thymus morphology, Paresthesia,... ORPHA:589
Mirizzi Syndrome
Dark urine, Tachycardia, Hyperbilirubinemia, Anorexia ORPHA:521219
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Koolen-De Vries Syndrome Due To A Point Mutation
Generalized-onset seizure, Decreased response to growth hormone stimulation test, Pineal cyst, Hy... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Generalized-onset seizure, Decreased response to growth hormone stimulation test, Pineal cyst, Hy... ORPHA:363958
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Van Maldergem Syndrome 1
Short fourth metatarsal, Periventricular nodular heterotopia, Micrognathia, Abnormal foot morphol... OMIM:601390
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ulnar deviation of the hand, Rocker bottom foot, A... OMIM:214100
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Congestive heart failure... OMIM:261740
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Abnormality of ext... ORPHA:320406
Coffin-Lowry Syndrome
Pes planus, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Short stature, T... ORPHA:192
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Overweight, Dilated cardiomyopathy, Renovascular hypertension ORPHA:401923
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Short stature, Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Gracile Bone Dysplasia
Short stature, Asplenia, Flared metaphysis, Slender long bone, Hypoplastic spleen, Failure to thr... OMIM:602361
Gray Platelet Syndrome
Myelodysplasia, Abnormality of the menstrual cycle ORPHA:721
3-Methylglutaconic Aciduria, Type Viii
Apnea, Clonus, Tremor, Dysphagia, Hypopnea, Respiratory failure, 3-Methylglutaric aciduria, 3-Met... OMIM:617248
Neu-Laxova Syndrome
Abnormal cortical gyration, Micromelia, Micrognathia, Flexion contracture, Abnormality of neurona... ORPHA:2671
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Cryptorchidism, Abnormality of neuronal migration, Macrog... ORPHA:899
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Small for gestational age, Ankle flexion contracture, Tapered fing... ORPHA:464311
Pitt-Hopkins Syndrome
Ataxia, Aggressive behavior, Gait ataxia, Self-injurious behavior, Micropenis, Failure to thrive,... ORPHA:2896
Hydrolethalus Syndrome 1
Hypospadias, Abnormal cortical gyration, Bifid uterus, Gray matter heterotopia, Adrenal gland dys... OMIM:236680
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai... OMIM:300952
Isolated Osteopoikilosis
Abnormality of the endocrine system, Addictive alcohol use ORPHA:166119
Alg9-Cdg
Lower limb spasticity, Torticollis, Seizure, Hypoplasia of the ovary, Bicornuate uterus, Hypoplas... ORPHA:79328
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Involuntary movements, Inability to walk, Cryptorchidism, Unsteady gait, Patchy hypo... ORPHA:3063
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Gray matter heterotopia, Gliosis... ORPHA:26791
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Transient ischemic attack, Cardiac arrest, First degree atrioventricular bl... OMIM:115197
Pachydermoperiostosis
Cerebral palsy, Elevated circulating growth hormone concentration, Impaired temperature sensation... ORPHA:2796
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potass... ORPHA:79102
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Congenital Disorder Of Deglycosylation 2
Ulnar deviation of the hand, Genu recurvatum, Sandal gap, Micrognathia, Gray matter heterotopia, ... OMIM:619775
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Developmental And Epileptic Encephalopathy 2
Inability to walk, Abnormal repetitive mannerisms, Myoclonus, Hyperventilation OMIM:300672
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus, Adrenal hypoplasia OMIM:264480
Hyperekplexia 1
Exaggerated startle response, Apnea, Hypertonia, Myoclonus, Aspiration, Frequent falls OMIM:149400
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Micrognathia, Intrah... OMIM:614887
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... OMIM:619121
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bruxism OMIM:616351
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Pain insensitivity, Decreased response to growth hormone stimulati... OMIM:616007
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Exaggerated startle response, Elevated circulating creatine kinase concentration, ... OMIM:253800
Galloway-Mowat Syndrome
Short stature, Camptodactyly of finger, Micrognathia, Hiatus hernia, Abnormality of neuronal migr... ORPHA:2065
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Dyspnea, Congestive heart failure, Oliguria, Heart murmur, Cough ORPHA:1054
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Failure to thrive, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Micrognathia, Postnatal growth retardation, Cryptorchidism, Ulnar bowing,... OMIM:619135
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Short stature, C... ORPHA:2839
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Postpoliomyelitis Syndrome
Hypoventilation, Fasciculations, Respiratory insufficiency, Dysphagia ORPHA:2942
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clonus OMIM:609541
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Tetrasomy 18P
Large hands, Abnormality of neuronal migration ORPHA:3307
Rabin-Pappas Syndrome
Hyponatremia, Hypoventilation, Failure to thrive in infancy, Retinal telangiectasia, Hydrocephalu... OMIM:620155
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Apnea, Rigidity, Respiratory insufficiency, Progressive spastic qua... ORPHA:521426
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Syndactyly, Periventricular nodular heterotopia, Cryptorchidis... OMIM:603671
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Congenital hip dislocation, Cryptorchidism OMIM:164180
Glutathionuria
Gray matter heterotopia OMIM:231950
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Alkuraya-Kucinskas Syndrome
Overlapping toe, Micrognathia, Abnormal foot morphology, Cutaneous syndactyly, Gray matter hetero... OMIM:617822
Subependymal Nodular Heterotopia
Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration ORPHA:101030
9Q21.13 Microdeletion Syndrome
Talipes, Postnatal growth retardation, Cryptorchidism, Gray matter heterotopia, Hip dysplasia, Po... ORPHA:531151
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Lethargy, Breathing dysregulation OMIM:618232
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Inguinal hernia, Micrognathia, Pachygyria, Cryptorchidism, Joint contracture of the ... OMIM:247200
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Van Maldergem Syndrome 2
Short fourth metatarsal, Ulnar deviation of the hand, Inguinal hernia, Periventricular nodular he... OMIM:615546
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hemog... ORPHA:90038
Bethlem Myopathy
Waddling gait, Hypoventilation, Reduced maximal expiratory pressure, Elevated circulating creatin... ORPHA:610
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Arrhythmia, Paroxysmal supraventricular tachycardia, Spina bifida occulta, Pulmonic stenosis OMIM:617877
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Cardiomyopathy, Urinary glycosaminoglycan excretion, Abnormality of... ORPHA:79255
Igg4-Related Ophthalmic Disease
Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis, Sialadeni... ORPHA:449563
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Periventricular Nodular Heterotopia
Periventricular heterotopia, Patent ductus arteriosus, Shoulder dislocation, Patellar dislocation... ORPHA:98892
Dyskeratosis Congenita, Autosomal Recessive 2
Reticulated skin pigmentation, Testicular atrophy OMIM:613987
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Bardet-Biedl Syndrome 1
Ataxia, Poor coordination, Obesity, Hypertension, Truncal obesity, Abdominal obesity, Gait imbalance OMIM:209900
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Spastic paraplegia, Obesity, Lower limb hypertonia, Tip-toe gait, Spastic gait, Limb hypertonia OMIM:617296
Chromosome 1P36 Deletion Syndrome, Distal
Clinodactyly of the 5th finger, Pachygyria, Hypothyroidism, Self-mutilation, Oppositional defiant... OMIM:607872
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Apnea, Clonus, Respiratory failure, Hypertonia, Dysphagia OMIM:617301
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
16P13.11 Microdeletion Syndrome
Short stature, Camptodactyly of finger, Cryptorchidism, Abnormality of neuronal migration, Self-i... ORPHA:261236
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Asparagine Synthetase Deficiency
Exaggerated startle response, Clonus, Tremor, Spastic tetraplegia, Respiratory insufficiency, Irr... OMIM:615574
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Ventricular arrhythmia OMIM:141000
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Tetraamelia Syndrome 1
Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia OMIM:273395
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Patent ductus arteriosus, Gray matter heterotopia, P... OMIM:617397
Acrorenal-Mandibular Syndrome
Absent nipple, Uterus didelphys, Bicornuate uterus, Polycystic kidney dysplasia, Unicornuate uterus OMIM:200980
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal cortical gyration, Preaxial hand polydactyly, P... ORPHA:2211
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Decreased forced expiratory flow 25-75%, Elevated circulating creatine kinase concentration, Prem... OMIM:617072
Microsporidiosis
Abnormality of the parathyroid gland, Abnormal endometrium morphology, Thyroiditis, Abnormal fall... ORPHA:2552
Double Outlet Left Ventricle
Failure to thrive, Tachypnea, Systolic heart murmur, Abnormal right ventricular function ORPHA:3427
Doors Syndrome
Adrenal hyperplasia, Bilateral tonic-clonic seizure, Congenital hypothyroidism, Focal impaired aw... ORPHA:79500
Congenital Muscular Dystrophy With Cerebellar Involvement
Calf muscle pseudohypertrophy, Decreased thalamic volume, Gray matter heterotopia, Polymicrogyria... ORPHA:370959
Neutral Lipid Storage Disease With Ichthyosis
Cardiomyopathy, Ataxia, Obesity, Difficulty walking ORPHA:98907
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Fryns Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Bicornuate uterus, Hypospadias ORPHA:2059
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Respiratory failure, Fasciculations, Hydronephrosis, Limb h... OMIM:620327
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus OMIM:601186
Koolen-De Vries Syndrome
Hyperactivity, Small for gestational age, Short stature, Impulsivity, Cryptorchidism, Patent duct... OMIM:610443
Unilateral Polymicrogyria
Involuntary movements, Infantile spasms, Focal-onset seizure, Perisylvian polymicrogyria, Spastic... ORPHA:268943
Pitt-Hopkins Syndrome
Incoordination, Intermittent hyperventilation, Gait ataxia, Self-injurious behavior, Micropenis, ... OMIM:610954
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypertension, Obesity ORPHA:69663
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Renal cyst, Ovarian cyst, Aplasia of the vagina, Ap... OMIM:614527
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Severe Congenital Nemaline Myopathy
Micropenis, Hypospadias, Hypokinesia, Dysphagia ORPHA:171430
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Abnormal fallopian tube m... ORPHA:1655
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Hypoplasia of the ovary, Generalized hypopigmentation, Micropenis, Decreased t... OMIM:619321
Acute Promyelocytic Leukemia
Stomatitis, Addictive alcohol use, Anorexia, Weight loss ORPHA:520
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... ORPHA:3312
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Micrognathia, Flexion contracture, Perisylvian predominant thick cor... ORPHA:98889
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ... ORPHA:449291
Rat-Bite Fever
Fever, Diminished movement, Weight loss, Pancreatitis, Parotitis ORPHA:31205
Pyruvate Dehydrogenase E1-Beta Deficiency
Intrauterine growth retardation, Periventricular heterotopia, Pachygyria, Decreased body weight ORPHA:255138
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Occipital Horn Syndrome
Dysphagia, Hypothermia, Exostoses ORPHA:198
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Holoprosencephaly
Omphalocele, Diabetes mellitus, Failure to thrive in infancy, Talipes, Congenital diaphragmatic h... ORPHA:2162
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Poor fine motor coordination, Sick sinus syndrome, Bradycardia, Prolon... ORPHA:542306
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Intrauterine growth retardation, Short stature, Abnormality of neuronal migration ORPHA:2518
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Seizure, Type II diabetes mellitus, Stea... OMIM:269200
Cerebrofacioarticular Syndrome
Syndactyly, Short stature, Micrognathia, Absence of pubertal development, Self-injurious behavior... ORPHA:314679
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dyspnea, Hyperpepsinogenemia I, Cardiomy... OMIM:615745
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Anuria, Megacystis, Pyelonephritis, Bidirecti... OMIM:619351
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, 2-5 finger syndactyly, Severe short stature, Multiple joint contractures, Camp... ORPHA:468631
Opitz-Kaveggia Syndrome
Syndactyly, Inguinal hernia, Multiple joint contractures, Broad hallux, Short stature, Micrognath... OMIM:305450
D-Bifunctional Protein Deficiency
Bilateral tonic-clonic seizure, Primary adrenal insufficiency, Seizure, Bile duct proliferation, ... OMIM:261515
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Abnormality of neuronal migration, Hepatic calcification, Renal tubular epithelial ... ORPHA:157
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use ORPHA:399180
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Smith-Magenis Syndrome
Increased body weight, Impaired pain sensation OMIM:182290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Agyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyr... OMIM:614643
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Breast aplasia, Abnormality of the uterus, Hypoplastic nippl... ORPHA:3138
Smith-Lemli-Opitz Syndrome
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc... OMIM:270400
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum, T... ORPHA:2745
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Congenital Analbuminemia
Small for gestational age, Obesity, Low pulse pressure ORPHA:86816
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Micropenis, Uterus didelphys, Septate vagina OMIM:617925
Legius Syndrome
Short attention span, Hyperactivity, Dystonia, Paroxysmal atrial tachycardia, Nephrolithiasis, Ma... ORPHA:137605
Sandhoff Disease, Infantile Form
Mitral regurgitation, Myoclonus, Exaggerated startle response, Spasticity ORPHA:309155
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Speech apraxia, Apnea, Recurrent pneumonia, Myoclonus, Asp... ORPHA:314655
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Porphyria Cutanea Tarda
Diabetes mellitus, Hematological neoplasm, Addictive alcohol use, Hypopigmentation of the skin, H... ORPHA:101330
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Facial-lingual fasciculations, Hydrocephalus, Spasti... OMIM:617281
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic fusion, Hypoplastic labia ... OMIM:269150
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Abnormality of neuronal migration, Hepatic calcification, Renal tubular epithelial ... ORPHA:228308
Pagod Syndrome
Multicystic kidney dysplasia, Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal... ORPHA:991
Orofaciodigital Syndrome I
Microretrognathia, Syndactyly, Short stature, Abnormal cortical gyration, Pancreatic cysts, Short... OMIM:311200
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Impulsivity, Periventricular heterotopia, Supernumerary nipple, Cryptorchidism, Interhypothalamic... OMIM:618929
Vici Syndrome
Gray matter heterotopia, Decreased circulating IgG2 level, Decreased circulating IgG level, Short... ORPHA:1493
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Decreased heart rate variability, H... OMIM:209880
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Urethral stricture, Abnormal blood ion concentration, Renal cyst, Aplasia/H... ORPHA:79404
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst... ORPHA:201
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Hellp Syndrome
Cerebral hemorrhage, Increased body weight, Internal hemorrhage, Hypotension ORPHA:244242
Limb-Mammary Syndrome
Absent nipple, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Ap... ORPHA:69085
Aicardi Syndrome
Proximal placement of thumb, Missing ribs, Precocious puberty, Postnatal growth retardation, Hiat... OMIM:304050
Obesity-Hypoventilation Syndrome
Hypoventilation, Obesity OMIM:257500
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Missing... ORPHA:3186
Lysosomal Acid Lipase Deficiency
Psychomotor deterioration, Hypertriglyceridemia, Adrenal calcification, Cachexia, Primary adrenal... ORPHA:275761
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Failure to thrive, Small for gestational age, Short stature, Cryptorchidi... OMIM:620024
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Patent ductus arteriosus, Seizure, Bile duct proliferation, Hyperc... OMIM:619534
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Cryptorchidism, Azoospermia, Bicornuate uterus, Hypog... ORPHA:84
Mosaic Trisomy 9
Hypoplasia of penis, Cryptorchidism, Multiple renal cysts, Abnormality of the uterus, Abnormal fa... ORPHA:99776
Klippel-Trénaunay Syndrome
Patent ductus arteriosus, Hemangioma, Abnormality of the menstrual cycle ORPHA:90308
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Elevated circulating creatine kinase concentration, Left bundle branch block, Arrhythmia, Failure... OMIM:610131
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, Short stature, Cachexia, Abnormality of ne... ORPHA:647
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo... OMIM:181270
Pmm2-Cdg
Fever, Hypogonadotropic hypogonadism, Ataxia, Elevated circulating growth hormone concentration, ... ORPHA:79318
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy OMIM:300707
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Orofaciodigital Syndrome Xvi
Postaxial foot polydactyly, Gray matter heterotopia, Postaxial hand polydactyly, Inguinal hernia OMIM:617563
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Micrognathia, Periventricular heterotopia, Cryptorchidism, Hip dyspl... ORPHA:261250
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Broad hallux, Periventricular heterotopia OMIM:614105
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... OMIM:263650
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Renal cyst, Bicornuate ute... OMIM:229850
Peters Plus Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Congenital hypothyroidism, Hypoplasia ... ORPHA:709
6Q Terminal Deletion Syndrome
Hallux valgus, Aplasia/Hypoplasia of the ribs, Micrognathia, Periventricular heterotopia, Obesity... ORPHA:75857
Microphthalmia, Syndromic 2
Hypospadias, Septate vagina, Cryptorchidism, Patent ductus arteriosus, Seizure, Adrenal insuffici... OMIM:300166
Chiari Malformation Type Ii
Gray matter heterotopia, Dysphagia OMIM:207950
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Talipes, Cryptorchidism, Gray matter heterotopia, Hip dysplasia, Bruxism, Intrauterine growth ret... ORPHA:453499
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Overweight, Hypovolemia, Obesity, Elevated diastolic bloo... ORPHA:90041
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia, Obesity, Brachydactyly OMIM:608624
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Tachypnea, Abnormal heart valve physiology, Pulmonic stenosis ORPHA:3384
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Beaulieu-Boycott-Innes Syndrome
Endometriosis OMIM:613680
Marshall-Smith Syndrome
Apnea, Hydrocephalus, Premature ventricular contraction, Stridor, Hypertension, Hypertonia, Aspir... OMIM:602535
Wiskott-Aldrich Syndrome
Fever, Abnormality of the menstrual cycle, Lymphoma, Chronic leukemia, Acute leukemia, Neoplasm, ... ORPHA:906
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Oligodendroglioma, Ependymoma, Gray matter heterotopia, Leu... OMIM:276300
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Metaphyseal widening, Diaphyseal sclerosis, Inappropriate laughter, ... OMIM:618476
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal atrioventricular conducti... ORPHA:280365
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Malakoplakia
Orchitis, Fever, Prostate neoplasm, Abnormality of the menstrual cycle ORPHA:556
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Herpes Simplex Virus Encephalitis
Fever, Seizure, Addictive alcohol use, Focal impaired awareness seizure, Status epilepticus, Foca... ORPHA:1930
Yellow Fever
Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent... ORPHA:99829
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy OMIM:309801
Periventricular Nodular Heterotopia 9
Periventricular nodular heterotopia, Tapered finger, Gray matter heterotopia, Clinodactyly of the... OMIM:618918
Neutral Lipid Storage Myopathy
Congestive heart failure, Obesity, Cardiomyopathy, Fasciculations, Difficulty walking ORPHA:98908
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Thyroiditis, Sialadenitis, Prostatitis, Pancreatitis ORPHA:449395
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bi... ORPHA:2052
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Bifid uterus, Cr... OMIM:107480
Orofaciodigital Syndrome Type 4
Failure to thrive, Monorchism, Primary adrenal insufficiency, Perineal fistula, Rectovaginal fist... ORPHA:2753
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia ORPHA:140952
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Meacham Syndrome
Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Septate vagina OMIM:608978
Meckel Syndrome 14
Ambiguous genitalia, Polycystic kidney dysplasia, Aplasia of the uterus OMIM:619879
Cardiac-Urogenital Syndrome
Tachycardia, Enlarged kidney, Patent urachus, Tracheomalacia, Micropenis, Penoscrotal hypospadias OMIM:618280
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Fraser Syndrome 1
Hypospadias, Cryptorchidism, Bicornuate uterus, Abnormal thymus morphology, Micropenis, Vaginal a... OMIM:219000
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Spasticity, Hypertonia, Intermittent hyperventilation, Decreased body weight OMIM:300749
Sotos Syndrome
Poor coordination, Overgrowth, Increased body weight, Tall stature OMIM:117550
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Rigidity, Hypoventilation OMIM:620275
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Tricuspid ... ORPHA:99125
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Brachydactyly, Severe short stature, Abnormal distal phalanx morphology of finger, Micromelia, Mi... ORPHA:2636
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Hypospadias, Endometriosis ORPHA:363444
Proteus Syndrome
Neoplasm of the thymus, Abnormal finger morphology, Clinodactyly of the 5th finger, Finger syndac... ORPHA:744
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Hypertonia ORPHA:163985
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus ORPHA:3440
Currarino Syndrome
Bicornuate uterus, Rectovaginal fistula, Septate vagina OMIM:176450
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficiency, Congenital hypot... ORPHA:2255
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea, Dystonia ORPHA:79330
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cardiomyopathy, Failure to thrive, Increased body weight ORPHA:264580
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Hypertonia OMIM:300607
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Lissencephaly, Simplified gyral pattern OMIM:615219
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Norrie Disease
Cryptorchidism, Diabetes mellitus, Delayed puberty, Uterine rupture ORPHA:649
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Syndactyly, Absent nipple, Small for gestational age, Short ... OMIM:612289
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Pes planus, Postaxial polydactyly, Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Growth de... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Pes planus, Postaxial polydactyly, Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Growth de... ORPHA:352665
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Bicornuate uterus, Hypospadias OMIM:265380
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Aplasia of the uterus OMIM:274000
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Xerostomia, Bicornuate uterus, Abnormal salivary gland morphology, Lacrimal gland... ORPHA:2363
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Renal cyst, Ambigu... ORPHA:93271
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation OMIM:606056
Meckel Syndrome, Type 1
External genital hypoplasia, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, female, Amb... OMIM:249000
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Knee flexion contracture, Calf muscle hypertrophy, Talipes equinovar... OMIM:618733
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Renal agenes... OMIM:619522
Genitopatellar Syndrome
Hip contracture, Congenital hip dislocation, Micrognathia, Periventricular heterotopia, Hypothyro... OMIM:606170
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus OMIM:614083
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin... ORPHA:289176
Holoprosencephaly 2
Anterior pituitary agenesis, Diabetes insipidus, Adrenal hypoplasia OMIM:157170
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Postaxial polydactyly OMIM:219730
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Cryptorchidism, Multiple renal cysts, Abnormali... ORPHA:567
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus OMIM:154400
Isolated Posterior Meningocele
Paraplegia, Hypertonia, Upper limb spasticity, Difficulty walking, Hypokinesia ORPHA:268810
Okamoto Syndrome
Bifid uterus ORPHA:2729
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Multiple ... ORPHA:857
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hypoplasia of the ut... OMIM:261540
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Wolf-Hirschhorn Syndrome
Precocious puberty, Cryptorchidism, Hypospadias, Aplasia of the uterus OMIM:194190
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Bicornuate uterus, Polycystic kid... OMIM:268300
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse ORPHA:286
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Bifid femur, Aplasia/hypoplasia of the femur, Clinodactyly of th... ORPHA:2769
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Calcaneovalgus deformity, Flexion contracture, Abnormal repetitive mannerisms, Long hal... ORPHA:261537
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Coffin-Siris Syndrome 1
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus OMIM:135900
Mowat-Wilson Syndrome
Asplenia, Calcaneovalgus deformity, Flexion contracture, Abnormal repetitive mannerisms, Long toe... ORPHA:2152
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hypoplastic labia... ORPHA:199
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Orofaciodigital Syndrome Type 14
Microretrognathia, Broad hallux, Deviation of the hallux, Periventricular heterotopia, Bilateral ... ORPHA:434179
Orofaciodigital Syndrome Xiv
Microretrognathia, Broad hallux, Micrognathia, Periventricular heterotopia, Cryptorchidism, Posta... OMIM:615948
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Calcaneovalgus deformity, Flexion contracture, Abnormal repetitive mannerisms, Long hal... ORPHA:261552
Pallister-Killian Syndrome
Hypospadias, Inability to walk, Obesity, Renal cyst, Apneic episodes in infancy, Aortic valve ste... OMIM:601803
Holoprosencephaly 14
Gray matter heterotopia, Periventricular heterotopia OMIM:619895
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Gray matter heterotopia, Decreased testicular size, Type II lissencephaly OMIM:615287
Classical Ehlers-Danlos Syndrome
Uterine prolapse, Cervical insufficiency ORPHA:287
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Hypermobile Ehlers-Danlos Syndrome
Cystocele, Paresthesia, Decreased fertility, Abnormality of the menstrual cycle ORPHA:285
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse ORPHA:284984
Loeys-Dietz Syndrome 3
Uterine prolapse, Cystocele OMIM:613795

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 Drd2

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 Drd2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Widespread Inhibition, Antagonism, and Synergy in Mouse Olfactory Sensory Neurons In Vivo. Cell reports (June 2020) Drd2tm1c(EUCOMM)Hmgu Drd2tm1a(EUCOMM)Hmgu 32610120
The perfect host: a mouse host embryo facilitating more efficient germ line transmission of genetically modified embryonic stem cells. PloS one (July 2013) Drd2tm1a(EUCOMM)Hmgu PMC3699516

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Drd2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Drd2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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