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Gene: Hydin MGI:2389007

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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:
HYDIN, axonemal central pair apparatus protein
Synonyms:
hy-3,  1700034M11Rik,  hy3,  hyrh,  4930545D19Rik

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 Hydin 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 Hydin by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... OMIM:608647
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Nasal polyposis, Productive cough, Asplenia, Wheezing, Hydrocephal... ORPHA:244

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Neonatal asphyxia, Depression, Bradykinesia, Hemiparesis, Lateral ventricle... ORPHA:306669
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Short stature, Decreased nasal nitric oxide, Bronchiectasis, Abnor... OMIM:612649
Ciliary Dyskinesia, Primary, 6
Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary motility, Recurrent sinusitis, Ci... OMIM:610852
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Ataxia, Babinski sign, Hand tremor, Depression, Lateral ventricl... OMIM:615889
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dy... OMIM:614017
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Microcephaly, Hypoplasia of the pons, Dysphagia, Respiratory insufficiency, Limb ataxia, ... OMIM:607596
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Microcephaly, Abnormal repetitive mannerisms, Hydrocephalus, Attention deficit hyperactiv... OMIM:618709
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Atypical Teratoid Rhabdoid Tumor
Cerebral palsy, Ataxia, Hemiplegia/hemiparesis, Hydrocephalus, Irritability, Macrocephaly ORPHA:99966
Alexander Disease Type I
Ataxia, Cachexia, Hydrocephalus, Progressive macrocephaly, Abnormal pyramidal sign, Spasticity, S... ORPHA:363717
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:616481
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Ciliary Dyskinesia, Primary, 28
Neonatal respiratory distress, Dynein arm defect of respiratory motile cilia, Decreased nasal nit... OMIM:615505
Masa Syndrome
Lower limb spasticity, Short stature, Microcephaly, Hyperlordosis, Kyphosis, Hydrocephalus, Spast... OMIM:303350
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:215520
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Short stature, Chronic pulmonary obstruction, Decreased nasal nitr... OMIM:612650
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... OMIM:612444
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Ciliary Dyskinesia, Primary, 18
Neonatal respiratory distress, Absent inner dynein arms, Absent outer dynein arms, Decreased nasa... OMIM:614874
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... OMIM:242670
Ciliary Dyskinesia, Primary, 14
Neonatal respiratory distress, Absent inner dynein arms, Wheezing, Recurrent pneumonia, Abnormal ... OMIM:613807
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Camptodactyly of finger, Short stature, Microcephaly, Spastic dipl... OMIM:619420
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... OMIM:617091
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Recurrent sin... OMIM:613193
Cach Syndrome
Premature ovarian insufficiency, Microcephaly, Atrophy/Degeneration affecting the brainstem, Prog... ORPHA:135
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Absent outer dynein arms, Decreased nasal nitric oxide, Bronchiect... OMIM:615500
Ciliary Dyskinesia, Primary, 27
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Rhinitis, Respirator... OMIM:615504
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... OMIM:615294
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Band Heterotopia
Hydrocephalus, Lateral ventricle dilatation, Macrocephaly, Spasticity, Agenesis of corpus callosu... OMIM:600348
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Chronic sinusitis, Recurrent s... OMIM:612518
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression... OMIM:618093
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Spastic tetraparesis, Short neck, Ankle flexion contracture, Cranio... ORPHA:284417
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Aggressive behavior, Babinski sign, Euphoria, Lateral ventricle dilatation, Inappropriate behavio... OMIM:221770
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms OMIM:618801
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Paraparesis, Oro... OMIM:617854
Ciliary Dyskinesia, Primary, 17
Dynein arm defect of respiratory motile cilia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary d... OMIM:614679
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Nasal polyposis, Wheezing, Recurrent pneumonia, Abnormal axonemal ... OMIM:613808
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Macrocephaly, Ventriculo... OMIM:611808
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Bicoronal synostosis, Delayed closure of the anterior fontanelle, Microcephaly, Hypoplasia of the... OMIM:618736
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis,... OMIM:608644
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... OMIM:617092
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Later... ORPHA:363654
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis OMIM:615872
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Congenital hip dislocation, Small for gestational age, Microcephaly, La... ORPHA:3078
Lissencephaly 4
Short stature, Babinski sign, Growth delay, Colpocephaly, Hypertonia, Primary microcephaly, Agene... OMIM:614019
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media, Ciliary dys... OMIM:616726
Beemer Lethal Malformation Syndrome
Hydrocephalus, Wide nasal bridge, Thrombocytopenia OMIM:209970
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Absent outer dynein arms, Asthma, Decreased nasal nitric oxide, Bronchiectasis, ... OMIM:616037
Ciliary Dyskinesia, Primary, 25
Neonatal respiratory distress, Productive cough, Chronic pulmonary obstruction, Recurrent pneumon... OMIM:615482
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Tongue thrusting, Lateral ventricle dilatation, Abnormal pons morphology, Atrophy/D... ORPHA:77299
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Small for gestational age, Clonus, Short stature, Microcephaly, Cryptorchidism, B... OMIM:619847
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Polymicrogyria Due To Tubb2B Mutation
Microcephaly, Hypoplasia of the pons, Oromotor apraxia, Abnormal brainstem morphology, Hemiparesi... ORPHA:300573
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Rhinitis, Re... OMIM:614935
Ciliary Dyskinesia, Primary, 22
Neonatal respiratory distress, Nasal polyposis, Bronchiectasis, Decreased nasal nitric oxide, Abs... OMIM:615444
Foxg1 Syndrome
Short stature, Kyphoscoliosis, Inability to walk, Abnormal respiratory system physiology, Stereot... ORPHA:561854
Ige Responsiveness, Atopic
Asthma, Eczema, Allergic rhinitis OMIM:147050
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Abnormal respiratory motile cili... ORPHA:922
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Ab... OMIM:618300
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... OMIM:604213
Bilateral Generalized Polymicrogyria
Short stature, Oral-pharyngeal dysphagia, Microcephaly, Spastic tetraplegia, Eyelid myoclonus, Gr... ORPHA:208447
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Depression, Irritability,... ORPHA:248111
Pineocytoma
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251912
Craniosynostosis 6
Bicoronal synostosis, Delayed cranial suture closure, Craniosynostosis, Microcephaly, Lateral ven... OMIM:616602
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Ataxia, Small for gestational age, Microcephaly, Inability to walk... ORPHA:79243
Eosinophilopenia
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Central Neurocytoma
Abnormal lateral ventricle morphology, Pain insensitivity, Ataxia, Hydrocephalus, Babinski sign, ... ORPHA:73256
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Inability to walk, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clon... OMIM:611225
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... OMIM:609637
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Kyphoscolio... ORPHA:3077
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Microcephaly, Tremor,... OMIM:619470
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Recurrent bacterial upper respiratory tract infections, Asthma, Atopic dermatitis, Rhi... ORPHA:70593
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Involuntary movements, Microcephaly, Inability to walk, Growth delay, Lateral ventricle dilatatio... OMIM:615716
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Myoclonus, Scoliosis, Action myoclonus, Frequent falls, Agenesis of corpus callosum,... OMIM:616540
Christianson Syndrome
Cachexia, Microcephaly, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Abnormal ... ORPHA:85278
Carboxypeptidase N Deficiency
Allergic rhinitis OMIM:212070
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... OMIM:601457
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Short stature, Aggressive behavior, Limb tremor, Self-injurious behavior, Hypertonia, Myoclonus, ... OMIM:300699
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... OMIM:620032
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein a... OMIM:606763
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Ventriculomegaly, Microcephaly, Inability to walk, Chorea, Self-injurious behavior, Hyperkinetic ... OMIM:614254
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Depression, Abnormality of extrapyramidal motor funct... OMIM:615362
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Abnormal pyramidal sign, Distal sensory impairment, Lateral ventricle dilatat... OMIM:256850
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology ORPHA:2703
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... OMIM:608647
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Postural tremor, Impair... ORPHA:99947
Pontocerebellar Hypoplasia, Type 13
Microcephaly, Hypoplasia of the pons, Inability to walk, Asthma, Gait ataxia, Lateral ventricle d... OMIM:618606
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Sacral dimple, Congenital hip dislocation, Respiratory insufficiency due to muscle... OMIM:618291
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Microcephaly, Recurrent pneumonia, Lateral ventricle dil... OMIM:617751
Immunodeficiency 102
Recurrent skin infections, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infecti... OMIM:301082
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Spastic tetraparesis, Respiratory insufficiency, Microcephaly OMIM:617668
Pontocerebellar Hypoplasia, Type 12
Hypoplasia of the brainstem, Lateral ventricle dilatation, Primary microcephaly OMIM:618266
Joubert Syndrome 3
Central apnea, Enlarged fossa interpeduncularis, Ataxia, Episodic tachypnea, Lateral ventricle di... OMIM:608629
Combined Oxidative Phosphorylation Defect Type 39
Lower limb spasticity, Involuntary movements, Microcephaly, Cryptorchidism, Babinski sign, Increa... ORPHA:565624
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Coiled sperm flagella, Recurrent sin... OMIM:620197
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Rhizomelia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Hip dislocation, Hypertonia, Attention deficit hyperactivity disor... ORPHA:250994
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Thoracic scoliosis, Torticollis, Kyphoscoliosis, Cubitus valgus, Inability to wal... ORPHA:300570
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Abnormal repetitive ma... OMIM:613443
Unilateral Hemispheric Polymicrogyria
Hemiparesis, Lateral ventricle dilatation ORPHA:101071
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis ORPHA:26137
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Short stature, Microcephaly, Tremor, Crypto... OMIM:300957
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Asplenia, Anosmia, Bronchiectasis, Immot... OMIM:244400
Spastic Paraplegia 70, Autosomal Recessive
Somatic sensory dysfunction, Microcephaly, Ankle clonus, Growth delay, Fasciculations, Scoliosis,... OMIM:620323
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Ciliary Dyskinesia, Primary, 37
Rhinorrhea, Wheezing, Bronchiectasis, Chronic rhinitis, Goiter OMIM:617577
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation... OMIM:619517
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Hypertonia, Spasticity, Microcephaly OMIM:618890
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Coiled sperm flagell... OMIM:618433
Ciliary Dyskinesia, Primary, 50
Coiled sperm flagella, Short sperm flagella, Chronic sinusitis, Absent inner dynein arms OMIM:620356
Slc35A2-Cdg
Failure to thrive in infancy, Camptodactyly of finger, Spastic tetraparesis, Microcephaly, Cranio... ORPHA:356961
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Recurrent pharyngitis, Thrombocytopenia, Recurrent pneumon... ORPHA:47612
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Somatic sensory dysfunction, Unsteady gait, Abnormal pyramidal sign, Impaired proprioception, Lim... ORPHA:95434
Developmental And Epileptic Encephalopathy 36
Microcephaly, Hydrocephalus, Abnormal pyramidal sign, Abnormality of extrapyramidal motor functio... OMIM:300884
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Microcephaly, Abnormal fear-induced behavior, Pseudobulbar paralysis, Macroc... ORPHA:208441
Mitochondrial Complex I Deficiency, Nuclear Type 19
Rigidity, Inability to walk, Respiratory insufficiency, Irritability, Athetosis, Secondary microc... OMIM:618241
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Hypoplasia of the brainstem, Scoliosis, Macrocephaly, Episodic atax... ORPHA:420179
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Clonus, Microcephaly, Kyphosis, Impaired proprioception, Upper limb... ORPHA:319199
Huntington Disease
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Depre... ORPHA:399
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Aggressive behavior, Tremor, Respiratory insufficiency, Hypogonadism, Myoclonus... ORPHA:97229
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral palsy, Poor gross motor coordination, Irritability, Lateral ventricle dilatation, Second... ORPHA:2148
Dermatitis, Atopic
Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Atopic dermatitis, Conjunctivitis OMIM:603165
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Lateral ventricle dilatation OMIM:616816
Alg13-Cdg
Clumsiness, Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Microcephaly, Chorea, Atrophy/Degeneration affecting the brainstem, Self-i... OMIM:617493
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Lateral ventricle dilatation OMIM:300982
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Fried Syndrome
Aggressive behavior, Hydrocephalus, Spastic diplegia, Gait disturbance, Scoliosis ORPHA:85335
Global Developmental Delay With Or Without Impaired Intellectual Development
Poor fine motor coordination, Lateral ventricle dilatation, Short stature OMIM:618330
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Kyphosis, Inability to walk, Chore... ORPHA:500180
Rett Syndrome
Apnea, Intermittent hyperventilation, Cachexia, Short stature, Kyphosis, Gait apraxia, Truncal at... OMIM:312750
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Increased CSF lactate, Gait ataxia, Weight loss, Failure to thrive OMIM:612075
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Ataxia, Short stature, Inability to walk, Hydrocephalus, Spastic tetraplegia, Hypoplasia of the b... OMIM:618174
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Short statu... OMIM:616756
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Microcephaly, Short stature, Kyphosis, Respirator... ORPHA:702
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Ataxia, Cachexia, Microcephaly, Ventriculomegaly ORPHA:1933
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Short stature, Abnormal cerebellum morphology, Hydrocephalus, Abnor... ORPHA:1532
Alexander Disease
Ataxia, Hydrocephalus, Babinski sign, Progressive macrocephaly, Dysmetria, Spasticity, Palatal tr... OMIM:203450
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Gait ataxia, Depression, Irritability, Hemiparesis, Myoclonus, ... OMIM:123400
Glutaric Acidemia I
Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat... OMIM:231670
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus, Gait disturbance, Lethargy, Failure to thrive ORPHA:26
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Ataxia, Microcephaly, Overweight, Inability to walk, Tremor, Obesity, Ster... OMIM:619229
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Acut... ORPHA:486
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Hyperactivity, Microcephaly, Aggressive behavior, Cryptorchidism, Chorea, ... ORPHA:485350
Diencephalic Syndrome
Hydrocephalus, Cachexia, Decreased body weight ORPHA:1672
Juvenile Amyotrophic Lateral Sclerosis
Lower limb spasticity, Ataxia, Clonus, Cachexia, Microcephaly, Parkinsonism, Inability to walk, C... ORPHA:300605
2,4-Dienoyl-Coa Reductase Deficiency
Incoordination, Ataxia, Clonus, Microcephaly, Hydrocephalus, Tetraplegia, Increased CSF lactate, ... OMIM:616034
Hsd10 Disease
Ataxia, Microcephaly, Tremor, Rigidity, Postnatal growth retardation, Choreoathetosis, Gait distu... ORPHA:391417
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Nasal polyposis, Productive cough, Asplenia, Wheezing, Hydrocephal... ORPHA:244
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Ataxia, Short stature, Kyphosis, Tongue fasciculations, Attention deficit hyperactivity disorder,... OMIM:620007
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Sacral dimple, Short stature, Ankle clonus, Lateral ventricle dilatation, Lower limb hypertonia, ... OMIM:619995
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Ataxia, Aggressive behavior, Wide anterior fontanel, Unsteady gait, L... ORPHA:457279
Atypical Rett Syndrome
Episodic tachypnea, Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Sudden episodi... ORPHA:3095
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation, Progressive spasticity OMIM:619972
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Spinal rigidity, Hyperlordosis, Respiratory insufficiency, Gait disturbance ORPHA:157973
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Aggressive behavior, Dysplastic corpus callosum, Genu valgum, Later... ORPHA:488627
Distal Deletion 10Q
Failure to thrive, Lumbar hyperlordosis, Ataxia, Clonus, Prominent metopic ridge, Microcephaly, A... ORPHA:96148
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Overweight, Inability to walk, Parapa... ORPHA:2822
Leukoencephalopathy With Vanishing White Matter 5
Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Myoclonus, Lethargy,... OMIM:605899
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, ... ORPHA:507
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Delayed vertebral ossification, Thoracic kyphoscoliosis, Small for gestational age, Ky... OMIM:613330
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Failure to thrive in infancy, Cachexia, Short neck, Microcephaly, Inability to w... OMIM:616801
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia, Macrocephaly ORPHA:2576
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili... ORPHA:66624
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Ataxia, Camptodactyly of finger, Short stature, Kyphosis, Abnormal... ORPHA:48431
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait ataxia, Growth delay, Gait imbalance, Intrauterine gr... ORPHA:488635
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Up... ORPHA:401901
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, Secondary microcephal... OMIM:606777
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Short stature, Genu valgum, Agenesis of corpus callosum, Macrocephaly, Molar too... ORPHA:166024
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, At... ORPHA:572798
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Broad-based gait, Short stature, Camptodactyly of finger, Cachexia, Microcephaly, ... ORPHA:85293
Adams-Oliver Syndrome 2
Microcephaly, Hydrocephalus, Lateral ventricle dilatation, Macrocephaly, Limb hypertonia OMIM:614219
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Microcephaly, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, M... OMIM:607317
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... OMIM:618218
Congenital Disorder Of Glycosylation, Type In
Ataxia, Short stature, Short neck, Microcephaly, Respiratory insufficiency, Myoclonus, Spasticity... OMIM:612015
Alg2-Cdg
Lateral ventricle dilatation, Microcephaly ORPHA:79326
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Dyspnea, Chorea, Choreoathetosis, Hyperkinetic move... ORPHA:98810
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Dysmetria, Irritability, Agenesis of corpus callosum, Abnormality of the... OMIM:250620
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Short stature, Hyperlordosis, Microcephaly, Kyphosis, Spinal rigidity, Res... OMIM:617404
Moynahan Syndrome
Short stature, Hypogonadism, Cachexia, Microcephaly ORPHA:2574
Hurler-Scheie Syndrome
Splenomegaly, Rhinitis ORPHA:93476
Aicardi-Goutieres Syndrome 9
Spastic tetraparesis, Microcephaly, Spastic tetraplegia, Spastic diplegia, Weight loss, Irritabil... OMIM:619487
Hao-Fountain Syndrome
Speech apraxia, Aggressive behavior, Cryptorchidism, Large fontanelles, Apraxia, Delayed cranial ... OMIM:616863
Whipple Disease
Ataxia, Anorexia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Respiratory insufficiency, De... ORPHA:3452
Huntington Disease-Like 1
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax... ORPHA:157941
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb spasticity, Impaired vibration sensation in the lower limbs, Limb hypertonia, Colpocep... ORPHA:401815
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Spastic tetraplegia, Hypoplasia of the br... OMIM:619302
Gm1-Gangliosidosis, Type Iii
Ataxia, Short stature, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior beaking of lu... OMIM:230650
Cog5-Cdg
Short stature, Camptodactyly of finger, Short neck, Microcephaly, Cryptorchidism, Atrophy/Degener... ORPHA:263487
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop... OMIM:259710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Respirato... OMIM:613153
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dila... OMIM:618914
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Hypoplasia of the brainstem, Agitation, Myoclonus, Compulsive behaviors, Failure to thrive OMIM:619651
Developmental And Epileptic Encephalopathy 69
Inability to walk, Spastic tetraplegia, Hyperkinetic movements, Myoclonus, Macrocephaly OMIM:618285
Infantile Krabbe Disease
Respiratory distress, Lower limb spasticity, Cachexia, Decreased head circumference, Spastic dipl... ORPHA:206436
Polymyoclonus, Infantile
Irritability, Ataxia, Myoclonus OMIM:263550
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu... ORPHA:572
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Cachexia, Weight loss OMIM:613662
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem OMIM:615957
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia,... OMIM:614409
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Myoclonus-Dystonia Syndrome
Torticollis, Depression, Myoclonus, Compulsive behaviors, Spinal myoclonus, Limb myoclonus ORPHA:36899
Sandhoff Disease, Adult Form
Tremor, Gait ataxia, Fasciculations, Dysphagia, Spasticity ORPHA:309169
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Failure to thrive in infancy, Short stature, Kyphoscoliosis, Microcephaly, Sh... OMIM:611209
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Aggressive behavior, Cryptorchidism, Kyphosis, Lateral ventricle dilatation, Dilate... OMIM:619244
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Ex... ORPHA:71277
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Microcephaly, Tremor, Apneic episodes precipitated by illness, fatigue... OMIM:312170
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Lower limb spasticity, Broad-based gait, Hip contracture, Hyperlordosis, Kyphosis,... OMIM:615290
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Cerebral palsy, Ataxia, Short stature, Microcephaly, Aggressive behavior, Hydrocephalus, Irritabi... OMIM:619833
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Short stature, Cachexia, Short neck, Microcephaly, Elbow flexion contracture, Sp... ORPHA:371364
D-2-Hydroxyglutaric Aciduria 1
Apnea, Subependymal cysts, Lateral ventricle dilatation, Macrocephaly, Inspiratory stridor OMIM:600721
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology, Increased CSF lactate, Abnormal CS... ORPHA:255182
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Mild microcephaly, Paroxy... OMIM:500003
Mcdonough Syndrome
Short stature, Cachexia, Cryptorchidism, Kyphosis, Scoliosis ORPHA:2471
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Periodontitis ORPHA:1008
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Spastic paraplegia, Obesity, Lateral ventricle dilatatio... OMIM:617296
Alexander Disease
Clonus, Short neck, Aqueductal stenosis, Tremor, Chorea, Abnormal pyramidal sign, Agenesis of cor... ORPHA:58
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Apnea, Tachypnea, Molar tooth sign on MRI, Dilated third ventricle, Recu... ORPHA:397715
Bainbridge-Ropers Syndrome
Failure to thrive, Microcephaly, Cryptorchidism, Inability to walk, Large fontanelles, Growth del... OMIM:615485
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Aggressive behavior, Bilateral cryptorchidism, Large for gestational age, Asthma, ... ORPHA:544488
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Abnormal substantia nigra morphology, Involuntary movements, Akines... ORPHA:97349
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Decrea... OMIM:605407
Temple Syndrome
Relative macrocephaly, Small for gestational age, Short stature, Postnatal growth retardation, Cr... ORPHA:254516
Epilepsy, Progressive Myoclonic, 8
Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, Gait disturbance, Fal... OMIM:616230
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Depression, Abnormality of extrapyramidal motor function, Myoclonus OMIM:162350
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Short stature, Cachexia, Microcephaly, Chorea, Athetosis, Hypertonia, Self... ORPHA:52503
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Ataxia, Clonus, Rigidity, Chorea, Depression, Choreoathetosis, Bradykinesia, Opisth... ORPHA:13
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Dysmetria, Gait at... OMIM:607136
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation, Growth delay, Microcephaly ORPHA:85290
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Pneumothorax, Depression, Growth delay... OMIM:619738
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia ORPHA:1882
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Relative macrocephaly, Hyperactivity, Short stature, Aggressive behavior, Tremor, Cryptorchidism,... OMIM:300354
Dystonia 11, Myoclonic
Torticollis, Tremor, Depression, Myoclonus, Compulsive behaviors OMIM:159900
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea, Short neck, Tremor, Choreoathetosis, Male hypogonadism, Wrist flexion contracture, Ataxia,... OMIM:300055
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Self-injurious behavior, Lateral ventricle di... OMIM:620075
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Apnea, Respiratory insufficiency, Irritability, Hypertonia, Secondary microcephaly, Myoclonus, Ve... OMIM:617290
Netherton Syndrome
Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Hypereosinophilia, Chronic rhinitis... OMIM:256500
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Loss of ambulation, Impaired vibratory sensation, Self-... ORPHA:2388
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal left ventricular function, Cardiomyopathy, ... OMIM:613155
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Clonus, Involuntary movements, Opisthotonus, Irritability, Colpocephaly,... OMIM:620352
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Microcephaly, Respiratory insufficiency, Lateral ventricle d... OMIM:617397
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Hypertension, Apneic episodes in infancy, Molar toot... OMIM:619111
Yellow Nail Syndrome
Sinusitis, Dyspnea, Bronchiectasis, Rhinitis, Cough, Pulmonary arterial hypertension ORPHA:662
Flynn-Aird Syndrome
Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis ORPHA:2047
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Spasticity, Ventriculomegal... OMIM:304100
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Respiratory insufficiency due to muscle weakness, Inability to walk, Tremor, Clums... ORPHA:2590
Hyperphenylalaninemia, Bh4-Deficient, C
Microcephaly, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonus, Dysphagia OMIM:261630
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Subependymal cysts, Lateral ventricle dilatation, Decreased... OMIM:610015
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements OMIM:618425
Developmental And Epileptic Encephalopathy 37
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... OMIM:616981
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Macrocephaly, Spasticity, Agenesis of cor... OMIM:307000
L1 Syndrome
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Depression, Gait disturbance, Spasticity ORPHA:275543
Cdkl5-Deficiency Disorder
Impaired pain sensation, Kyphosis, Abnormal respiratory system physiology, Growth delay, Gait dis... ORPHA:505652
Mitochondrial Complex I Deficiency, Nuclear Type 31
Failure to thrive, Myoclonus, Ventriculomegaly, Dysmetria OMIM:618251
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Depression, Irritability, Secondary microcephaly, Myoclonus, Spasticity, Progressive micr... OMIM:256730
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Irritability, Increased CSF phenylalanine concentration, Hyper... OMIM:233910
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Increased CSF homovanillic acid concentration, Chorea, Rigidity, Abnormal p... OMIM:613135
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Increased CSF alanine concentration, Failure to thrive in infancy, Short stature, Babinsk... OMIM:619065
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agita... OMIM:607485
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Ataxia, Short stature, Absent pubertal growth spurt, Microc... ORPHA:464282
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Choreoathetosis, Hyperkinetic movements, Secondary microcephaly, Myoclonus, Br... OMIM:618497
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age, Short stature, Kyphosis, Congenital bilateral hip dislo... ORPHA:85288
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Myoclonus, Difficulty walking, Attention deficit hyperactivity dis... OMIM:619191
Paroxysmal Hemicrania
Focal sensory seizure with olfactory features, Rhinitis, Rhinorrhea ORPHA:157835
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma ORPHA:330064
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Irritability, Depression, Action tremor OMIM:606438
Weaver Syndrome
Cryptorchidism, Kyphosis, Limited elbow extension, Slurred speech, Hydrocele testis, Poor fine mo... OMIM:277590
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Salt And Pepper Developmental Regression Syndrome
Microcephaly, Choreoathetosis, Irritability, Myoclonus, Failure to thrive OMIM:609056
Spinocerebellar Ataxia 2
Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Ri... OMIM:183090
Kleeblattschaedel
Hydrocephalus OMIM:148800
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Relative macrocephaly, Failure to thrive, Short stature, Impulsivity, Microcephaly, Aggressive be... ORPHA:500055
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Hypertonia, Decreased CSF homovanillic acid concentration, Myoclonus, Failure to t... OMIM:610090
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Neonatal respiratory distress, Ataxia, Aggressive behavior, Microcephaly, Babinski sign, Respirat... OMIM:618356
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations, Dysphagia ORPHA:85162
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Short stature, Microcephaly, Kyphosis, Hip dislocation, Scoliosis, Bruxism OMIM:300434
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Microcephaly, Chorea, Cogwheel rigidity, Bradykinesia, Myoc... OMIM:619725
Lopes-Maciel-Rodan Syndrome
Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Ankle clonus, ... OMIM:617435
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Secondary microcephaly, Myoclonus, Difficulty walking, Lethargy, Spast... OMIM:617829
Hogue-Janssen Syndrome 2
Prominent metopic ridge, Microcephaly, Inability to walk, Hydrocephalus, Gait ataxia, Scoliosis, ... OMIM:616362
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Myoclonus, Lethargy, Spasticity... OMIM:617065
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... ORPHA:363710
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Hyperkinetic movements, Stereotypical hand wringing, Progressive microce... ORPHA:397933
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Hydrocephalus, Spastic tetraplegia, Macrocephaly, Macroorchidism OMIM:300886
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Persistent open anterior fontanelle, Congenital hip dislocation, Ataxia... ORPHA:357058
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Dyspnea, Spasticity, Gait ataxia, Myoclonus, Primary microcephaly, Intrauterine gr... OMIM:620145
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hydrocephalus, Splenomegaly, Respiratory insufficiency, CSF lymph... OMIM:610333
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Midline brainstem cleft, Hemiparesis, Scoli... OMIM:617542
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcephaly, Aggressive behavior, Kyphosis, Inability to walk, Recurrent pneumonia, Lateral vent... ORPHA:464738
Pettigrew Syndrome
Microcephaly, Aqueductal stenosis, Aggressive behavior, Hydrocephalus, Stereotypical hand wringin... OMIM:304340
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Small for gestational age, Microcephaly OMIM:619278
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Asthma OMIM:612714
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Short stature, Microcephaly, Overweight, Tremor, Depression, Hyperkine... ORPHA:457240
Narp Syndrome
Ataxia, Short stature, Babinski sign, Irritability, Progressive gait ataxia, Myoclonic spasms, Ve... ORPHA:644
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Incoordination, Ataxia, Impaired distal proprioception, Babinski sign, Abnormal pyramidal sign, I... OMIM:616688
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the brainstem ORPHA:352682
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cerebral palsy, Small for gestational age, Short stature, Microcephaly, Cryptorchi... ORPHA:352490
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Sacral dimple, Short stature, Craniosynostosis, Short neck, Hydrocephalus, Macrocephaly ORPHA:1516
Ataxia-Telangiectasia-Like Disorder
Dilated fourth ventricle, Ataxia, Hypergonadotropic hypogonadism, Short stature, Chorea, Dysmetri... ORPHA:251347
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation, Olivopontocerebellar hypoplasi... ORPHA:166063
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Irritability, Inappropria... ORPHA:275864
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Adult Krabbe Disease
Broad-based gait, Acroparesthesia, Ataxia, Somatic sensory dysfunction, Abnormal medulla oblongat... ORPHA:206448
Sandhoff Disease
Kyphosis, Failure to thrive, Ataxia, Macrocephaly ORPHA:796
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Elevated CSF 4-hydroxybutyric acid concentration, Ele... OMIM:271980
Idiopathic Bronchiectasis
Crackles, Productive cough, Cachexia, Dyspnea, Wheezing, Abnormal respiratory system physiology, ... ORPHA:60033
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly, Macrocephaly ORPHA:2185
Optic Atrophy 11
Hyperactivity, Ataxia, Short stature, Microcephaly, Gait apraxia, Dysmetria, Athetosis, Stereotyp... OMIM:617302
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function, Depression OMIM:204300
Pontocerebellar Hypoplasia, Type 4
Microcephaly, Hypoplasia of the pons, Respiratory failure, Hypertonia, Hypoplasia of the brainste... OMIM:225753
Combined Saposin Deficiency
Babinski sign, Myoclonus, Fasciculations, Hyperkinetic movements OMIM:611721
Achondroplasia
Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Hydrocephalus, Wide anterior... ORPHA:15
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Microcephaly, Hyperlordosis, Kyphosis, Restrictive ventilatory defect, Respirat... OMIM:606612
4Q21 Microdeletion Syndrome
Short neck, Tremor, Kyphosis, Large fontanelles, Growth delay, Self-injurious behavior, Agenesis ... ORPHA:238750
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Episodic tachypnea... ORPHA:163961
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Irrita... ORPHA:101150
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Short neck, Hydrocephalus, Obesity, Azoospermia, C... ORPHA:2183
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... ORPHA:254343
Nasu-Hakola Disease
Hydrocephalus, Chorea, Irritability, Disinhibition, Oculomotor apraxia, Spasticity, Ventriculomegaly ORPHA:2770
Parastremmatic Dwarfism
Severe short stature, Short neck, Kyphosis, Genu valgum, Scoliosis OMIM:168400
Pontocerebellar Hypoplasia, Type 2E
Ventriculomegaly, Short stature, Microcephaly, Spastic tetraplegia, Opisthotonus, Irritability, H... OMIM:615851
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Cachexia, Macrocephaly, Lethargy, Exertional dyspnea ORPHA:42
Williams-Beuren Region Duplication Syndrome
Speech apraxia, Small for gestational age, Short stature, Cryptorchidism, Hydrocephalus, Gait dis... OMIM:609757
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Ataxia, Atrophy/Degeneration affecting the brainstem, Spastic tetraplegia, Myoclonus, Attention d... OMIM:619971
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Failure to thrive, Short stature, Overweight, Hydrocephalus, Head-banging, Self-injurious behavio... OMIM:619575
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Multicentric Reticulohistiocytosis
Arthritis, Cachexia ORPHA:139436
Pulmonary Blastoma
Weight loss, Dyspnea, Recurrent pneumonia, Cough ORPHA:64741
Silver-Russell Syndrome
Relative macrocephaly, Failure to thrive in infancy, Short stature, Cachexia, Postnatal growth re... ORPHA:813
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Scoliosis,... OMIM:619317
Craniotelencephalic Dysplasia
Craniosynostosis, Microcephaly, Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Irritability, Small anterior fontanelle, Myoclonus, Prim... OMIM:607196
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Cryptorchidism, Hydrocephalus, Unilambdoid synostosis, Scoliosis, A... OMIM:618577
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... ORPHA:314632
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Short stature, Aggressive behavior, Microcephaly, Hydrocephalus, Clu... OMIM:300558
Greig Cephalopolysyndactyly Syndrome
Delayed cranial suture closure, Craniosynostosis, Cryptorchidism, Hydrocephalus, Metopic synostos... OMIM:175700
Spinocerebellar Ataxia Type 2
Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce... ORPHA:98756
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Ataxia, Short stature, Impaired pain sensation, Kyphosis, Unstea... OMIM:618124
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis ORPHA:101075
Developmental And Epileptic Encephalopathy 1
Spastic tetraparesis, Microcephaly, Dyspnea, Abnormal pyramidal sign, Choreoathetosis, Growth del... OMIM:308350
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Tenorio Syndrome
Cerebral palsy, Apnea, Delayed cranial suture closure, Hydrocephalus, Recurrent pneumonia, Clumsi... OMIM:616260
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Olivopon... ORPHA:370959
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Atrophy/Degeneration affecting the brainstem, Slurred speech, Impaired p... ORPHA:98755
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Valinemia
Failure to thrive, Hyperkinetic movements OMIM:277100
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Microcephaly OMIM:614105
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Severe short stature, Cachexia, Microcephaly, Poor coordination,... OMIM:610965
Huntington Disease-Like 2
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance ORPHA:98934
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Small for gestational age, Short stature, Kyphosis, Delayed ossification of carpal... OMIM:618392
Myoclonus, Intractable, Neonatal
Apnea, Microcephaly, Chorea, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation, Dand... OMIM:617235
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Respiratory insufficiency due to muscle weakness, Kyphosis, Distal sensory impairment, Difficulty... OMIM:617087
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Sc... OMIM:615157
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Hydrocephalus, Shoulder dislocation, Gait disturbance, Scoliosis, Hemiplegia ORPHA:2181
Ichthyosis Prematurity Syndrome
Neonatal asphyxia, Asthma, Allergic rhinitis, Erythroderma OMIM:608649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cerebel... OMIM:615181
Microtriplication 11Q24.1
Speech apraxia, Joint dislocation, Short stature, Short neck, Microcephaly, Obesity, Genu valgum,... ORPHA:289522
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosencephaly, Spasticity, Agenes... ORPHA:2182
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Spastic tetraplegia OMIM:613721
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Ataxia, Spastic tetraparesis, Proportionate short stature, Babinski sign, W... ORPHA:3208
Joubert Syndrome 31
Oculomotor apraxia, Molar tooth sign on MRI, Ventriculomegaly, Truncal ataxia OMIM:617761
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Hydrocephalus, Spastic tetraplegia, Platysp... OMIM:618476
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Vocal cord paralysis, Spasticity... ORPHA:500144
Joubert Syndrome With Renal Defect
Encephalocele, Molar tooth sign on MRI, Apnea, Ataxia, Tremor, Hydrocephalus, Gait disturbance, B... ORPHA:220497
Renpenning Syndrome
Severe short stature, Cachexia, Microcephaly, Growth delay, Decreased testicular size ORPHA:3242
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Microcephaly, Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Secondary microcephaly, Spas... OMIM:615599
Ravine Syndrome
Apnea, Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Schwartz-Jampel Syndrome
Apnea, Short neck, Hypertonia, Wrist flexion contracture, Abnormally ossified vertebrae, Short st... ORPHA:800
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Spasticity, Gait ataxia, Choreoathetosis, ... ORPHA:225154
Houge-Janssens Syndrome 1
Congenital hip dislocation, Hydrocephalus, Gait ataxia, Scoliosis, Macrocephaly, Intrauterine gro... OMIM:616355
Chiari Malformation Type Ii
Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Opisthotonus, Cervical myelopathy, Dysphag... OMIM:207950
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Spastic tetraplegia, Irritability, Intrauterine growth retardation, Failure to thrive OMIM:618237
Spinocerebellar Ataxia, Autosomal Recessive 10
Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal ataxia, Intention tremor OMIM:613728
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Pontocerebellar Hypoplasia, Type 7
Apnea, Ataxia, Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Spastic paraplegia, Opistho... OMIM:614969
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... ORPHA:331235
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Short neck, Microcephaly, Dyspnea, Large fontanelles, Respiratory failure, ... ORPHA:1832
Joubert Syndrome 7
Central apnea, Encephalocele, Ataxia, Episodic tachypnea, Brainstem dysplasia, Tachypnea, Genu va... OMIM:611560
Joubert Syndrome 30
Cerebellar atrophy, Ventriculomegaly, Apnea, Tachypnea, Molar tooth sign on MRI, Superior cerebel... OMIM:617622
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Abnormality of the pa... ORPHA:2552
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Paresthesia... ORPHA:298
Familial Cold Autoinflammatory Syndrome 3
Recurrent otitis media, Asthma, Allergic rhinitis, Hashimoto thyroiditis OMIM:614468
Scheie Syndrome
Splenomegaly, Rhinitis ORPHA:93474
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Gabriele-De Vries Syndrome
Waddling gait, Tremor, Cryptorchidism, Lateral ventricle dilatation, Tip-toe gait, Patellar dislo... OMIM:617557
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis ORPHA:101078
Lissencephaly 5
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the brainstem... OMIM:615191
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Corpus Callosum Agenesis-Neuronopathy Syndrome
Craniosynostosis, Microcephaly, Aqueductal stenosis, Hemiplegia/hemiparesis, Agenesis of corpus c... ORPHA:1496
Papillary Tumor Of The Pineal Region
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251915
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O... OMIM:619028
Noonan Syndrome 14
Short stature, Short neck, Cryptorchidism, Kyphosis, Lateral ventricle dilatation, Cubitus valgus... OMIM:619745
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Somatic sensory dysfunction, Postural tremor, Atrophy/Degeneration affecting the bra... OMIM:619862
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Keppen-Lubinsky Syndrome
Spastic tetraparesis, Microcephaly, Recurrent pneumonia, Upper airway obstruction, Respiratory in... OMIM:614098
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Short stature, Clonus, Microcephaly, Tremor, Chorea, Unsteady gait, ... ORPHA:397946
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Short stature, Hydrocephalus, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... ORPHA:443811
Medulloblastoma
Back pain, Ataxia, Delayed cranial suture closure, Hydrocephalus, Progressive macrocephaly, Dysme... ORPHA:616
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Hip contracture, Microcephaly, Short neck, Large for gestational age, Larg... OMIM:300868
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Respiratory insufficiency ORPHA:263410
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Disproportionate shor... OMIM:271530
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Spasticity OMIM:615924
Developmental And Epileptic Encephalopathy 54
Myoclonus, Ventriculomegaly, Microcephaly OMIM:617391
Pontocerebellar Hypoplasia, Type 1E
Respiratory failure requiring assisted ventilation, Hypoplasia of the pons, Elbow flexion contrac... OMIM:619303
Ciliary Dyskinesia, Primary, 20
Productive cough, Absent outer dynein arms, Recurrent pneumonia, Bronchiectasis, Respiratory insu... OMIM:615067
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Hydranencephaly, Intrauterine... OMIM:225790
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Short stature, Cachexia, Microcephaly, Hydrocephalus, Spasticity ORPHA:220295
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Depression, Bradyk... OMIM:137440
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Microcephaly, Babinski sign, Respiratory insufficiency, Respiratory failure, Spasticity OMIM:618186
Joubert Syndrome With Ocular Defect
Encephalocele, Molar tooth sign on MRI, Apnea, Ataxia, Tremor, Hydrocephalus, Agenesis of corpus ... ORPHA:220493
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Gait disturbance, Scoliosis, Macrocephaly, Spasticity ORPHA:2429
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Short stature, Cachexia ORPHA:1389
Perry Syndrome
Hypoventilation, Central hypoventilation, Akinesia, Parkinsonism, Tremor, Rigidity, Respiratory i... OMIM:168605
Restless Legs Syndrome, Susceptibility To, 1
Restless legs, Paresthesia, Myoclonus OMIM:102300
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Hydrocephalus, Growth delay, Lateral ventricle dilatation, Intrauterine gro... OMIM:612863
Epilepsy, Progressive Myoclonic, 11
Rigidity, Ataxia, Myoclonus, Intention tremor OMIM:618876
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Steppage gait, Claw hand deformity, Fasciculations, Distal sensory impairment OMIM:606595
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Craniosynostosis, Macrocephaly ORPHA:380
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Short stature, Kyphosis, Obesity, Depression, Scoliosis ORPHA:276630
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Hypogonadotropic hypogonadism, Short stature, Microcephaly, Short neck, Obe... ORPHA:177907
Immunodeficiency 58
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Asthma, ... OMIM:618131
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Gait ataxia, Dysphagia, Progressive cerebellar ataxia, Cogwheel rig... OMIM:607346
Temple Syndrome
Relative macrocephaly, Small for gestational age, Short stature, Overweight, Cryptorchidism, Hydr... OMIM:616222
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Methylcobalamin Deficiency Type Cble
Microcephaly, Postnatal growth retardation, Hydrocephalus, Lower limb hypertonia, Hypoplasia of t... ORPHA:2169
Idiopathic Achalasia
Cough, Wheezing, Weight loss, Dysphagia, Recurrent aspiration pneumonia ORPHA:930
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, ... ORPHA:240103
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Machado-Joseph Disease
Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism, Facial-lingual fasc... OMIM:109150
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Classic Galactosemia
Male infertility, Speech apraxia, Premature ovarian insufficiency, Ataxia, Incoordination, Postur... ORPHA:79239
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Respiratory insufficiency due to muscle weakness, Tremor, Dysphagia, Tongue fasciculations, Diffi... OMIM:159950
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Loss of ability to walk in early childhood, Small for gestational age, Short stature, Respiratory... OMIM:612073
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Short stature, Microcephaly, Irritability, Lateral ventricle dilata... OMIM:618367
Ck Syndrome
Hyperactivity, Hyperlordosis, Microcephaly, Kyphosis, Aggressive behavior, Irritability, Scoliosi... OMIM:300831
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Microcephaly, Hypoplasia of the pons, Extra-axial cerebrospinal fluid ac... OMIM:617669
Cole-Carpenter Syndrome 2
Wide cranial sutures, Short stature, Postnatal growth retardation, Kyphosis, Hydrocephalus, Platy... OMIM:616294
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Scoliosis, Loss of ambulation OMIM:614018
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Severe short stature, Small for gestational age, Rigidity, Growth ... OMIM:619057
H Syndrome
Psoriasiform dermatitis, Microcytic anemia, Recurrent pharyngitis, Hydrocephalus, Bronchiectasis,... ORPHA:168569
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature, Abnormal form of... ORPHA:40
Joubert Syndrome 9
Encephalocele, Apnea, Episodic tachypnea, Scoliosis, Oculomotor apraxia, Molar tooth sign on MRI,... OMIM:612285
Ceroid Lipofuscinosis, Neuronal, 8
Loss of ambulation, Ataxia, Myoclonus OMIM:600143
Phosphoserine Aminotransferase Deficiency
Apnea, Decreased CSF serine concentration, Hypertonia, Secondary microcephaly, Myoclonus, Decreas... OMIM:610992
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Wrist swelling, Gait disturbance, Carpal osteolysis, Abnormali... ORPHA:2774
Peho-Like Syndrome
Progressive microcephaly, Myoclonus, Ventriculomegaly OMIM:617507
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Abnormal brainstem morphology, Falls, Myoclonus ORPHA:2382
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Secondary microcephaly, Spasticity ORPHA:397951
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,... ORPHA:2635
Dystonia 28, Childhood-Onset
Torticollis, Short stature, Microcephaly, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retr... OMIM:617284
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus OMIM:125370
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Impulsivity, Microcephaly, Tremor, Involuntary movements, Ri... ORPHA:442835
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Eosinophilic Gastroenteritis
Allergic rhinitis, Eosinophilia, Leukocytosis, Asthma, Atopic dermatitis, Anemia ORPHA:2070
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Congenital hip dislocation, Apnea, Delayed closure of the anterior fontanelle, Cryptorchidism, Ky... OMIM:619797
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Lower limb spasticity, Babinski sign, Depression, Ankle clonus, Respiratory failure, Fasciculatio... OMIM:613954
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis, Respiratory insufficiency, Platysp... ORPHA:2655
Spinocerebellar Ataxia 13
Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressi... OMIM:605259
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Chiari malformation, Frontal encephalocele ORPHA:261102
Borjeson-Forssman-Lehmann Syndrome
Short stature, Microcephaly, Cryptorchidism, Kyphosis, Obesity, Scoliosis, Delayed puberty, Scheu... OMIM:301900
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Microcephaly, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Thoracic kypho... OMIM:619092
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Abnormality of the cerv... ORPHA:306511
Sandhoff Disease, Juvenile Form
Incoordination, Ataxia, Abnormal pyramidal sign, Gait disturbance, Fasciculations, Abnormality of... ORPHA:309162
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Joubert Syndrome 2
Central apnea, Enlarged fossa interpeduncularis, Encephalocele, Ataxia, Episodic tachypnea, Brain... OMIM:608091
Congenital Toxoplasmosis
Failure to thrive in infancy, Microcephaly, Hydrocephalus, Intrauterine growth retardation, Ventr... ORPHA:858
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
O'Donnell-Luria-Rodan Syndrome
Aggressive behavior, Cryptorchidism, Kyphosis, Self-injurious behavior, Skin-picking, Macrocephaly OMIM:618512
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem ORPHA:250972
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Impulsivity, Microcephaly, Hypoplasia of the pons, Dysphagia, Abnor... ORPHA:280195
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Macrocephaly, Truncal ataxia, Dandy-Walker malformation OMIM:220220
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Lujo Hemorrhagic Fever
Respiratory distress, Maculopapular exanthema, Skin rash, Crackles, Nonproductive cough, Fulminan... ORPHA:319213
Thanatophoric Dysplasia Type 2
Encephalocele, Short stature, Kyphosis, Hydrocephalus, Respiratory insufficiency, Platyspondyly, ... ORPHA:93274
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Hydrocephalus, Hip dislocation, Abnormality of the vertebral column, Macrocephaly,... OMIM:109120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, D... OMIM:613154
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Ataxia, Breathing dysregulation, Hypo... OMIM:610688
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Hurler Syndrome
Depressed nasal bridge, Anteverted nares, Splenomegaly, Hydrocephalus, Wide nasal bridge, Rhinitis ORPHA:93473
1Q44 Microdeletion Syndrome
Prominent metopic ridge, Short stature, Microcephaly, Hydrocephalus, Growth delay, Biparietal nar... ORPHA:238769
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Ataxia, Increased CSF lactate, Myoclonus, Macrocephaly, Lethargy, Spasticity OMIM:618225
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Inability to walk, Elbow flexion contracture, Thoracic ... ORPHA:206546
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Prominent metopic ridge, Ataxia, Kyphosis, Gait disturbance, Scoliosis ORPHA:85317
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Kyphosis, Hyperlordosis, Short... OMIM:300718
Mosaic Trisomy 1
Thoracic scoliosis, Camptodactyly of finger, Elbow flexion contracture, Small anterior fontanelle... ORPHA:1692
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Respiratory insufficiency due to muscle weakness, Cryptorchidism, Microcephaly, Kypho... OMIM:611890
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Eyelid myoclonus, Attention deficit hyperactivity disorder, Scoliosis OMIM:616421
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spinocerebellar Ataxia Type 36
Ataxia, Babinski sign, Limb myoclonus, Dysmetria, Dysphagia, Limb ataxia, Hand tremor, Tongue fas... ORPHA:276198
Halperin-Birk Syndrome
Inability to walk, Hip dislocation, Spastic tetraplegia, Colpocephaly, Pseudobulbar paralysis, Hy... OMIM:618651
Joubert Syndrome 20
Molar tooth sign on MRI, Aggressive behavior, Inability to walk, Respiratory insufficiency, Oculo... OMIM:614970
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Loss of ambulation OMIM:256731
Intellectual Developmental Disorder, Autosomal Dominant 65
Prominent metopic ridge, Ataxia, Aggressive behavior, Noncommunicating hydrocephalus, Clumsiness,... OMIM:619320
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Marinesco-Sjogren Syndrome
Hypergonadotropic hypogonadism, Ataxia, Short stature, Microcephaly, Kyphosis, Limb ataxia, Gait ... OMIM:248800
Joubert Syndrome 33
Apnea, Ataxia, Macrocephaly, Oculomotor apraxia, Molar tooth sign on MRI OMIM:617767
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Broad-based gait, Cachexia, Paralysis, Hydrocephalus, Oculomoto... ORPHA:2072
Aicardi Syndrome
Block vertebrae, Spina bifida, Microcephaly, Postnatal growth retardation, Partial agenesis of th... OMIM:304050
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Spastic tetraparesis, Craniosynostosis, Cryptorchidism, Hydrocephalus, Large fontanelles, Obesity... ORPHA:171839
Spinocerebellar Ataxia 1
Dilated fourth ventricle, Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski... OMIM:164400
Intellectual Developmental Disorder, Autosomal Dominant 26
Hyperactivity, Cerebral palsy, Small for gestational age, Short stature, Microcephaly, Kyphosis, ... OMIM:615834
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Cryptorchidism, Kyphosis, Attention deficit hyperactivity disorder, Age... OMIM:615433
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cervical platyspondyly, Colpocephaly, Scoliosis, Microcephaly OMIM:618731
Childhood-Onset Spasticity With Hyperglycinemia
Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Babinski sign, Spastic diplegi... ORPHA:401866
Dystonia 23
Torticollis, Gait disturbance, Myoclonus, Head tremor OMIM:614860
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... ORPHA:79263
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Small for gestational age, Short neck, Microcephaly, Cryptorchidism, Wid... OMIM:614541
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal ... OMIM:619574
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Hydrocephalus, Obesity, Polyphagia, Self-mutilation OMIM:616521
Tay-Sachs Disease
Tremor, Dysmetria, Decerebrate rigidity, Aspiration pneumonia, Progressive spasticity, Progressiv... ORPHA:845
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Pontocerebellar Hypoplasia Type 10
Growth delay, Abnormal brainstem morphology ORPHA:411493
Frontotemporal Dementia With Motor Neuron Disease
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Depress... ORPHA:275872
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Hypogonadism, Gait disturbance, Cubitus valgus, Decreased testicular size ORPHA:1875
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... ORPHA:309246
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Kyphosis, Babinski sign, Dysmetria, ... ORPHA:88644
Developmental And Epileptic Encephalopathy 16
Microcephaly, Hemiparesis, Secondary microcephaly, Myoclonus, Abnormality of extrapyramidal motor... OMIM:615338
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, My... ORPHA:254881
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Microcephaly OMIM:618302
Spermatogenic Failure, X-Linked, 6
Male infertility, Recurrent pneumonia, Coiled sperm flagella, Reduced sperm motility, Absent sper... OMIM:301101
Joubert Syndrome
Encephalocele, Apnea, Episodic tachypnea, Ataxia, Tremor, Hydrocephalus, Abnormal form of the ver... ORPHA:475
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Short stature, Hyperlordosis, Cryptorchidism, Abnormal repetitive mannerisms, Brux... OMIM:615873
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Ataxia, Myoclonus OMIM:545000
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Hydrocephalus, Gait disturbance, Intrauterine growth retardation, Ventri... ORPHA:272
Pediatric-Onset Graves Disease
Hyperactivity, Craniosynostosis, Microcephaly, Tremor, Neonatal asphyxia, Irritability, Small ant... ORPHA:525731
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Progressive Myoclonic Epilepsy With Dystonia
Microcephaly, Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function,... ORPHA:352596
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Gait disturbance, Scoliosis ORPHA:99014
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Short stature, Short neck, Microcephaly, Kyphosis, Inability to walk, Hip disloc... OMIM:301041
Central Precocious Puberty In Male
Pituitary microadenoma, Hydrocephalus, Acne, Abnormality of the testis size ORPHA:649929
Hemimegalencephaly
Hemiparesis, Myoclonus, Ventriculomegaly, Macrocephaly ORPHA:99802
Mitochondrial Complex I Deficiency, Nuclear Type 12
Ataxia, Unsteady gait, Choreoathetosis, Gait imbalance, Myoclonus, Frequent falls OMIM:301020
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia, Microcephaly, Patellar aplasia, Hip dislocation, Scoliosis ORPHA:2058
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Facial-lingual fasciculations, Microcephaly, Dysplas... OMIM:617281
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Scol... OMIM:610743
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly OMIM:617127
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia, Short neck ORPHA:1438
Cronkhite-Canada Syndrome
Cachexia, Anorexia, Macrocephaly ORPHA:2930
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Abnormal pyramidal sign, Knee flexion contracture, Hypertonia, Agenesis o... ORPHA:468631
Emanuel Syndrome
Sacral dimple, Failure to thrive, Congenital hip dislocation, Kyphoscoliosis, Microcephaly, Crypt... ORPHA:96170
Developmental And Epileptic Encephalopathy 27
Microcephaly, Chorea, Mild microcephaly, Myoclonus, Spasticity OMIM:616139
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavi... ORPHA:98794
Hereditary Central Diabetes Insipidus
Weight loss, Growth delay, Irritability, Lethargy, Polydipsia ORPHA:30925
Continuous Spikes And Waves During Sleep
Speech apraxia, Clumsiness, Hyperkinetic movements, Aggressive behavior ORPHA:725
Tetrasomy 12P
Short stature, Cachexia, Short neck ORPHA:884
Duplication Of The Pituitary Gland
Encephalocele, Lower limb spasticity, Thoracic scoliosis, Abnormal odontoid process morphology, S... ORPHA:314621
Mantle Cell Lymphoma
Anorexia, Weight loss ORPHA:52416
Cutis Laxa, Autosomal Recessive, Type Iib
Congenital hip dislocation, Microcephaly, Hydrocephalus, Large fontanelles, Scoliosis, Wormian bo... OMIM:612940
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Hypothyroidism, Congenital, Nongoitrous, 6
Relative macrocephaly, Increased body mass index, Broad-based gait, Congenital hip dislocation, I... OMIM:614450
Krabbe Disease
Hydrocephalus, Hypertonia, Decerebrate rigidity, Progressive spasticity, Failure to thrive, Incre... OMIM:245200
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
19Q13.11 Microdeletion Syndrome
Congenital hip dislocation, Cachexia, Microcephaly, Cryptorchidism, Growth delay, Intrauterine gr... ORPHA:217346
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Fasciculations, Difficulty walking OMIM:615575
47,Xyy Syndrome
Macroorchidism, Cryptorchidism, Asthma, Hydrocephalus, Abnormal brainstem morphology, Oligozoospe... ORPHA:8
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Rhinitis, Depressed nasal bridge, Hypoplastic nipples, Absent nipple OMIM:614941
Hsd10 Disease, Infantile Type
Restlessness, Spastic tetraparesis, Microcephaly, Poor coordination, Spastic diplegia, Increased ... ORPHA:391428
Joubert Syndrome 36
Molar tooth sign on MRI, Macrocephaly OMIM:618763
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Kyphoscoliosis OMIM:271200
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, Paraplegia, Weight l... ORPHA:98897
Posttransplant Acute Limbic Encephalitis
Ataxia, Hyperglycorrhachia, CSF lymphocytic pleiocytosis, Depression, Myoclonus, Increased CSF pr... ORPHA:163921
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Ho... OMIM:615491
Oromandibular Dystonia
Respiratory distress, Torticollis, Dysphagia, Weight loss, Depression, Blepharospasm, Hyperkineti... ORPHA:93958
Pontocerebellar Hypoplasia, Type 1D
Oral-pharyngeal dysphagia, Short neck, Microcephaly, Respiratory insufficiency, Tongue fasciculat... OMIM:618065
Myoclonic Epilepsy Of Infancy
Poor motor coordination, Aggressive behavior, Irritability, Myoclonus, Poor hand-eye coordination... ORPHA:86909
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Congenital hip dislocation, Prominent metopic ridge, Microcephaly, Aqueductal sten... OMIM:619512
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Enlarged joints, Severe short stature, Thoracolumbar scoliosis, Kyphosis, Respir... OMIM:313420
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... OMIM:614898
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Myoclonus OMIM:204500
Tuberculosis
Weight loss, Cough ORPHA:3389
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Gaucher Disease, Type Iii
Ataxia, Short stature, Depression, Myoclonus, Spastic paraparesis, Decreased body weight OMIM:231000
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Microcephaly, Tremor, Kyphosis, Inability to walk, Dys... OMIM:617988
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Pneumonia, Chron... ORPHA:125
Palmoplantar Carcinoma, Multiple Self-Healing
Chronic rhinitis OMIM:615225
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... OMIM:606693
Ogden Syndrome
Torticollis, Delayed cranial suture closure, Postnatal growth retardation, Cryptorchidism, Hypert... ORPHA:276432
Aredyld Syndrome
Cachexia, Short stature, Scoliosis, Intrauterine growth retardation ORPHA:1133
Developmental And Epileptic Encephalopathy 72
Inability to walk, Hyperkinetic movements, Dysphagia OMIM:618374
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Short neck, Partial agenesis of the corpus callosum, Knee flexion contracture, Agenesis of corpus... OMIM:210710
Mitochondrial Complex I Deficiency, Nuclear Type 18
Wide anterior fontanel, Increased CSF lactate, Respiratory failure, Hypertonia, Myoclonus, Macroc... OMIM:618240
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Semilobar Holoprosencephaly
Aspiration pneumonia, Lethargy, Agenesis of corpus callosum, Abnormal central motor function, Sho... ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia, Lethargy, Agenesis of corpus callosum, Abnormal central motor function, Sho... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia, Lethargy, Agenesis of corpus callosum, Abnormal central motor function, Sho... ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia, Lethargy, Agenesis of corpus callosum, Abnormal central motor function, Sho... ORPHA:93924
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal nasal morphology, Hydrocephalus, Depressed nasal bridge ORPHA:83473
Joubert Syndrome 32
Ataxia, Large for gestational age, Macrocephaly, Oculomotor apraxia, Molar tooth sign on MRI OMIM:617757
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Alpers-Huttenlocher Syndrome
Ataxia, Microcephaly, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic pa... ORPHA:726
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition... OMIM:600795
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Ataxia, Short stature, Craniosynostosis, Wide anterior fontanel, Depression, Self-... OMIM:601853
Joubert Syndrome 1
Central apnea, Enlarged fossa interpeduncularis, Hyperactivity, Hemifacial spasm, Ataxia, Episodi... OMIM:213300
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Slurred speech, Limb ataxia, Dysmetria, Ankle clonus, Progressive cerebellar ataxia, Progressive ... ORPHA:284289
Adenylosuccinase Deficiency
Hyperactivity, Prominent metopic ridge, Aggressive behavior, Microcephaly, Inability to walk, Gai... OMIM:103050
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
20Q11.2 Microdeletion Syndrome
Intrauterine growth retardation, Brainstem dysplasia ORPHA:444051
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Ankle flexion contracture, Respiratory insufficiency due t... ORPHA:1143
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Dysphagia, Scoliosis, Spinal rigidity OMIM:618323
Alg12-Cdg
Wide nose, Prominent nasal bridge, Recurrent pharyngitis, Thrombocytopenia, Recurrent pneumonia, ... ORPHA:79324
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Neonatal respiratory distress, Trident pelvis, Lateral ventricle dilatation, Disproportionate sho... OMIM:619479
Leukodystrophy, Hypomyelinating, 10
Inability to walk, Babinski sign, Hypoplasia of the brainstem, Hyperkinetic movements, Secondary ... OMIM:616420
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis, Wide anterior fontanel, Respirator... ORPHA:1860
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Eosinophil... OMIM:615816
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Kyphoscoliosis, Molar tooth sign on MRI, Intrauterine gr... OMIM:614815
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... ORPHA:101112
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia ORPHA:163596
Cog8-Cdg
Ventriculomegaly, Ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem, Failure to thr... ORPHA:95428
Chronic Hiccup
Depression, Weight loss, Abnormal eating behavior ORPHA:396
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyph... OMIM:616482
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Joint dislocation, Ataxia, Poor motor coordination, Tremor, Rigidity... ORPHA:25
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Increased CSF lactate, Progressive cerebellar ataxia, Myoclonus ORPHA:139485
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Arachnoid Cyst
Back pain, Enlarged fossa interpeduncularis, Encephalocele, Inability to walk, Hydrocephalus, Par... ORPHA:2356
Emanuel Syndrome
Sacral dimple, Failure to thrive, Torticollis, Congenital hip dislocation, Microcephaly, Cryptorc... OMIM:609029
Brain-Lung-Thyroid Syndrome
Respiratory distress, Chorea, Abnormal drinking behavior, Choreoathetosis, Compulsive behaviors, ... ORPHA:209905
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Recurrent pneumonia, Growth delay, Lateral ventricle dilatation, Increased head ci... OMIM:612301
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Galloway-Mowat Syndrome
Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger, Microcephaly, Aq... ORPHA:2065
Holocarboxylase Synthetase Deficiency
Respiratory distress, Ataxia, Anorexia, Tachypnea, Weight loss, Growth delay, Irritability, Lethargy ORPHA:79242
Craniofacial Dyssynostosis With Short Stature
Short stature, Cryptorchidism, Hydrocephalus, Chiari type I malformation, Agenesis of corpus call... OMIM:218350
Joubert Syndrome 14
Encephalocele, Ataxia, Hydrocephalus, Meningocele, Growth delay, Irritability, Hypoplasia of the ... OMIM:614424
Perry Syndrome
Parkinsonism, Central hypoventilation, Tremor, Weight loss, Depression, Abnormality of extrapyram... ORPHA:178509
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Dyspnea, Kyphos... OMIM:211530
Dworschak-Punetha Neurodevelopmental Syndrome
Short neck, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hypertonia, Gait disturbance, Hyperkinetic movements, Lethargy, Failure to thrive OMIM:236270
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Apnea, Ataxia, Microcephaly, Hydrocephalus, Upper motor neuron dysfunction... ORPHA:395
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Respiratory fai... OMIM:616505
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involu... ORPHA:454887
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Inability to walk, Weight loss, Opisthotonus, Tip-toe gait, Gait disturbance, Attention de... ORPHA:216866
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Choanal atresia OMIM:612247
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Tremor, Abnormal pyramidal sign, Increased CSF lactate, Myoclonus OMIM:612016
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Trisomy 18
Short stature, Camptodactyly of finger, Spina bifida, Microcephaly, Cachexia, Cryptorchidism, Ane... ORPHA:3380
Japanese Encephalitis
Respiratory distress, Genu recurvatum, Anorexia, Tremor, Opisthotonus, Choreoathetosis, Hypertoni... ORPHA:79139
Joubert Syndrome With Oculorenal Defect
Encephalocele, Apnea, Ataxia, Hydrocephalus, Tachypnea, Biparietal narrowing, Scoliosis, Molar to... ORPHA:2318
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature OMIM:618453
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... OMIM:600175
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Allergic rhinitis ORPHA:90368
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microcephaly, Respiratory insufficiency due to muscle weakness, Hydrocephalus, Hypoplasia of the ... OMIM:615249
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Rhinitis, Anemia ORPHA:230
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... OMIM:611134
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Camptocormia, Involuntary movements, Chorea, Choreoathetosis, Limb hypertonia, My... OMIM:606703
Bresek Syndrome
Microcephaly, Cryptorchidism, Hydrocephalus, Hemivertebrae, Growth delay, Scoliosis, Intrauterine... ORPHA:85284
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Delayed closure of the anter... OMIM:130060
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Hemivertebrae, Obesity, Abnormal form of the vertebral bodies, Scoliosis, Macrocep... ORPHA:2180
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Dysphagia, Oculomotor apraxia, ... OMIM:614487
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Short neck, Cryptorchidism, Hydrocephalus, Hypertonia, Secondary microcephaly, Intrauterine growt... OMIM:612938
Joubert Syndrome 37
Prominent metopic ridge, Lumbar hyperlordosis, Short stature, Molar tooth sign on MRI, Cryptorchi... OMIM:619185
Baralle-Macken Syndrome
Microcephaly, Inability to walk, Kyphosis, Obesity, Spasticity OMIM:619255
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Early Myoclonic Encephalopathy
Lethargy, Myoclonus, Dysphagia ORPHA:1935
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Ataxia, Rhizomelia, Microcephaly, Tremor, Recurrent pneumonia, Increased CS... OMIM:616271
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hyperlordosis, Tremor, Kyphosis, Inability to walk, Babinski sign, Depression, Bleph... OMIM:128100
Winchester Syndrome
Arthropathy, Kyphosis, Carpal osteolysis OMIM:277950
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Short stature, Hydrocephalus, Coronal craniosynostosis, Scoliosis, W... OMIM:112240
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Depressed nasal bridge, Leukemia, Ventriculomegaly OMIM:602501
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Ataxia, Babinski sign, Abnormal pyramidal sig... ORPHA:204
Fg Syndrome Type 1
Limited elbow extension and supination, Sacral dimple, Broad-based gait, Short stature, Craniosyn... ORPHA:93932
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Sjögren-Larsson Syndrome
Short stature, Microcephaly, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spas... ORPHA:816
Marden-Walker Syndrome
Short neck, Microcephaly, Cryptorchidism, Kyphosis, Wide anterior fontanel, Postnatal growth reta... OMIM:248700
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst, Primary microcephaly ORPHA:293725
Wilson Disease
Back pain, Aggressive behavior, Abnormality of the menstrual cycle, Hypersexuality, Increased bod... ORPHA:905
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal intervertebral disk morphology, Short stature, Cryptorchidism, Hydrocephalus, Abnormalit... ORPHA:2701
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Vitamin K Antagonist Embryofetopathy
Short neck, Hydrocephalus, Myelomeningocele, Punctate vertebral calcifications, Respiratory insuf... ORPHA:1914
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus OMIM:619647
Muscle-Eye-Brain Disease
Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Hypertonia, Gait disturbance, Holoprosencephaly ORPHA:588
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Microcephaly, Progressive cerebellar ataxia, Chin myoclonus, Myoclonu... ORPHA:263516
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Absent nipple, Depressed nasal bridge, Eczema, Underdeveloped nasal alae, A... OMIM:305100
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Spinal rigidity, Short neck, Kyphosis, Hip dislocation, Elbow flexion contracture, K... ORPHA:75840
Joubert Syndrome 10
Growth delay, Molar tooth sign on MRI, Macrocephaly OMIM:300804
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Ventriculome... ORPHA:467166
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Genu recurvatum, Short stature, Aggressive behavior, Cryptorchidism, Kyphosis... ORPHA:364028
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Short stature, Pneumonia, Kyphosis, Chorea, Disproportiona... ORPHA:1855
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Tongue fasciculations, Fasciculations, Dysphagia, Loss of ambulation OMIM:613435
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Short stature, Hypertonia, Secondary microcephaly, Myoclonus, Primary ... ORPHA:289266
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage, Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Incre... ORPHA:88619
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Eczema, Hydrocephalus, Asthma, Annular pancreas OMIM:618162
Hyperekplexia 4
Respiratory failure, Hypertonia, Myoclonus, Kyphoscoliosis OMIM:618011
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... OMIM:617282
Laryngotracheoesophageal Cleft Type 4
Cachexia, Respiratory insufficiency, Abnormal form of the vertebral bodies ORPHA:93941
Meckel Syndrome 13
Oculomotor apraxia, Occipital encephalocele, Ataxia, Molar tooth sign on MRI OMIM:617562
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Isaacs Syndrome
Fasciculations, Distal sensory impairment, Weight loss ORPHA:84142
Seckel Syndrome
Short stature, Cachexia, Craniosynostosis, Microcephaly, Scoliosis, Intrauterine growth retardation ORPHA:808
Kleefstra Syndrome 2
Microcephaly, Kyphosis, Growth delay, Self-injurious behavior, Scoliosis OMIM:617768
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Edinburgh Malformation Syndrome
Hypertonia, Hydrocephalus, Failure to thrive, Respiratory insufficiency ORPHA:1895
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Somatic sensory dysfunction, Steppage gait, Fasciculations, Impaired distal tactile sensation OMIM:600882
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Truncal ataxia, Restrictive ventilatory defect, Hyperkinetic movements, Difficulty walkin... ORPHA:369847
Pallister-Hall-Like Syndrome
Occipital encephalocele, Short stature, Microcephaly, Hydrocephalus, Hip dislocation, Macrocephaly OMIM:241800
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Ataxia, Thoracolumbar scoliosis, Short stature, Hyperlordosis, Microcephaly, Kyphosis, Inability ... OMIM:618443
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Respiratory insufficienc... ORPHA:100924
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Disinhibition, Myoclonus, Gait disturbance, Apraxia OMIM:618193
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Relative macrocephaly, Short stature, Sagittal craniosynostosis, Hydrocephalus, Attention deficit... ORPHA:459061
Bethlem Myopathy 2
Kyphosis, Hip dislocation, Scoliosis OMIM:616471
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Respiratory insufficiency ORPHA:139406
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Relative macrocephaly, Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosis, Sagitt... ORPHA:500150
Joubert Syndrome 4
Ataxia, Oculomotor apraxia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI, Thic... OMIM:609583
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Delayed cranial suture closure, Inability to walk, Gait ataxia, Extra-axial... OMIM:619383
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Apnea, Tongue thrusting, Babinski sign, Limb tremor, C... OMIM:608643
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Short nec... OMIM:613686
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Scoliosis, Dy... ORPHA:363722
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum OMIM:300952
Joubert Syndrome 25
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI OMIM:616781
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Short stature, Rhizomelia, Short neck, Microcephaly, Kyphosis, Wide ante... ORPHA:3098
Spinocerebellar Ataxia 36
Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Dysphagia, Hypertonia, Tongue fa... OMIM:614153
Laryngeal Neuroendocrine Tumor
Weight loss, Oral-pharyngeal dysphagia, Anorexia, Exertional dyspnea ORPHA:100083
3C Syndrome
Short stature, Short neck, Postnatal growth retardation, Kyphosis, Hydrocephalus, Hemivertebrae, ... ORPHA:7
Central Diabetes Insipidus
Anorexia, Weight loss, Depression, Lethargy, Polydipsia, Failure to thrive ORPHA:178029
Leigh Syndrome
Ataxia, Involuntary movements, Abnormal brainstem MRI signal intensity, Chorea, Focal T2 hyperint... ORPHA:506
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Impaired pain sensation... ORPHA:101085
Fanconi Anemia, Complementation Group I
Short stature, Short neck, Microcephaly, Fused cervical vertebrae, Colpocephaly, Decreased body w... OMIM:609053
Camurati-Engelmann Disease
Waddling gait, Ataxia, Anorexia, Hyperlordosis, Cachexia, Kyphosis, Genu valgum, Abnormality of t... ORPHA:1328
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Short stature, Hydrocephalus, Obesity, Genu valgum, Oculomotor apraxia, Ventriculomegaly OMIM:615630
Metatropic Dysplasia
Relatively short spine, Enlarged joints, Severe short stature, Kyphoscoliosis, Hypoplasia of the ... OMIM:156530
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Ataxia, Short stature, Microcephaly, Elbow dislocation, Cryptorchidism, Inability to walk, Radial... OMIM:620083
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Schaaf-Yang Syndrome
Failure to thrive in infancy, Short stature, Impulsivity, Cryptorchidism, Kyphosis, Inability to ... OMIM:615547
Peroxisome Biogenesis Disorder 12A (Zellweger)
Short stature, Delayed closure of the anterior fontanelle, Microcephaly, Wide anterior fontanel, ... OMIM:614886
Al-Gazali-Bakalinova Syndrome
Enlarged joints, Short neck, Genu valgum, Macrocephaly, Molar tooth sign on MRI, Agenesis of corp... OMIM:607131
Neutral Lipid Storage Disease With Myopathy
Short stature, Fasciculations, Difficulty walking OMIM:610717
Trisomy 17P
Prominent metopic ridge, Short stature, Short neck, Microcephaly, Hydrocephalus, Growth delay, Hy... ORPHA:261290
Dravet Syndrome
Incoordination, Parkinsonism, Impulsivity, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine m... ORPHA:33069
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Kyphosis, Hydrocephalus, Knee flexion contracture, Macrocephaly, Ventriculome... OMIM:603387
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Abnormality of extrapyramidal motor function, Parkinsonism, Myoclonus OMIM:204200
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Clonus, Abnormal curvature of the vertebral column, Hypertonia, Tics, Compulsive behav... OMIM:619475
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Machado-Joseph Disease Type 1
Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign,... ORPHA:276238
Machado-Joseph Disease Type 2
Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign,... ORPHA:276241
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Microcephaly, Cryptorchidism, Kyphosis, Vertebral segmentation defect, Hype... ORPHA:2617
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Sialidosis Type 2
Short stature, Ataxia, Tremor, Dyspnea, Kyphosis ORPHA:87876
Hall-Riggs Syndrome
Microcephaly, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine gro... OMIM:234250
Infantile Sialic Acid Storage Disease
Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Anteverted nares OMIM:269920
Cutis Laxa, Autosomal Recessive, Type Iiia
Wide cranial sutures, Congenital hip dislocation, Short stature, Cryptorchidism, Large fontanelle... OMIM:219150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Ataxia, Short stature, Hyperlordosis, Microcephaly, Inability to w... OMIM:615356
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Res... ORPHA:363400
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Dysphagia, Oculomotor aprax... ORPHA:313772
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Eyelid myoclonus, Aggressive behavior OMIM:618357
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation, Respiratory insufficiency ORPHA:93262
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Abnormal brainstem morphology, Telangiectasia, Aplasia/Hypoplasia of ... ORPHA:79279
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Short stature, Hydrocephalus, Platyspondyly, Macrocephaly, Intrauterine growth retard... OMIM:300863
Gorlin Syndrome
Vertebral fusion, Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Hemivertebrae, Ve... ORPHA:377
Cockayne Syndrome
Progressive gait ataxia, Hypertonia, Intention tremor, Ataxia, Cryptorchidism, Gait disturbance, ... ORPHA:191
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Hand tremor ORPHA:86814
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Kn... ORPHA:536516
Autosomal Recessive Malignant Osteopetrosis
Apnea, Splenomegaly, Hydrocephalus, Lymphadenopathy, Chronic rhinitis, Otitis media, Pulmonary ar... ORPHA:667
Tetrasomy 5P
Respiratory distress, Short neck, Postnatal growth retardation, Wide anterior fontanel, Hydroceph... ORPHA:3309
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Apnea, Ataxia, Small for gestational age, Aggressive behavior, Microcephal... OMIM:617799
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Chorea, Decreased CSF biopterin level, Shoulder dislocation, Decrease... ORPHA:404454
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, Short neck, Po... OMIM:253220
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Degcags Syndrome
Ventriculomegaly, Pancytopenia, Anteverted nares, Prominent nasal bridge, Pneumonia, Prominent no... OMIM:619488
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Microcephaly ORPHA:2787
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Short neck, Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
19P13.12 Microdeletion Syndrome
Hyperactivity, Craniosynostosis, Short neck, Microcephaly, Cryptorchidism, Kyphosis, Obesity, Sel... ORPHA:254346
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Myoclonus, Hand tremor OMIM:608105
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... OMIM:618060
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Eosinophilic infiltration of the esophagus, Eosinophilic microabscess formatio... ORPHA:411696
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Microcephaly, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Ch... OMIM:618877
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Hand tremor, Bradykinesia, ... ORPHA:53351
Majeed Syndrome
Cachexia, Synovitis, Weight loss, Cough, Failure to thrive ORPHA:77297
Triploidy
Short neck, Cryptorchidism, Hydrocephalus, Meningocele, Abnormality of the fontanelles or cranial... ORPHA:3376
Desmosterolosis
Relative macrocephaly, Rhizomelia, Microcephaly, Hydrocephalus, Partial agenesis of the corpus ca... OMIM:602398
Albers-Schönberg Osteopetrosis
Joint dislocation, Short stature, Hydrocephalus, Osteoarthritis, Genu valgum, Arthritis, Macrocep... ORPHA:53
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Short stature, Increased CSF lactate, Myoclonus, Decreased body weight, Elevated CSF fumarate con... OMIM:619060
Joubert Syndrome 27
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Gait ataxia OMIM:617120
Orofaciodigital Syndrome Xvi
Ataxia, Apnea, Inability to walk, Oculomotor apraxia, Molar tooth sign on MRI, Ventriculomegaly OMIM:617563
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Severe short stature, Hyperlordosis, Microcephaly, Large fontanelles, Scoliosis, Abnormality of t... ORPHA:2511
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Prominent metopic ridge, Camptodactyly of finger, Microcephaly, Kyphosis, ... ORPHA:261349
Khan-Khan-Katsanis Syndrome
Sacral dimple, Short stature, Delayed closure of the anterior fontanelle, Microcephaly, Colpoceph... OMIM:618460
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Inability to walk, Myelopathy... ORPHA:139396
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure, Ataxia, Short stature ORPHA:1861
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Abnormal midbrain morphology, Shor... ORPHA:444072
Joubert Syndrome 15
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Exencephaly OMIM:614464
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Achondroplasia
Respiratory distress, Lumbar hyperlordosis, Rhizomelia, Hydrocephalus, Upper airway obstruction, ... OMIM:100800
Spondylometaphyseal Dysplasia, Kozlowski Type
Increased intervertebral space, Thoracic kyphosis, Genu varum, Cervical platyspondyly, Waddling g... ORPHA:93314
Gm1 Gangliosidosis
Ataxia, Camptodactyly of finger, Short stature, Hyperlordosis, Tremor, Kyphosis, Unsteady gait, A... ORPHA:354
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Bradykinesia, Blephar... ORPHA:157846
Opitz-Kaveggia Syndrome
Relative macrocephaly, Sacral dimple, Lumbar hyperlordosis, Short stature, Delayed closure of the... OMIM:305450
1Q21.1 Microdeletion Syndrome
Short stature, Microcephaly, Cryptorchidism, Hydrocephalus, Depression, Scoliosis, Attention defi... ORPHA:250989
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Multiple joint dislocation, Abnormal curvature of the vertebral column, Genu varum, Short stature... ORPHA:93360
Multiple Sulfatase Deficiency
Ataxia, Short stature, Hydrocephalus, Hypoplastic vertebral bodies, Spasticity, Increased CSF pro... OMIM:272200
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
7Q11.23 Microduplication Syndrome
Short neck, Hemivertebrae, Dysmetria, Abnormal repetitive mannerisms, Collectionism, Hyperactivit... ORPHA:96121
Crouzon Syndrome
Multiple suture craniosynostosis, Hydrocephalus, Respiratory insufficiency, Abnormal sacrum morph... ORPHA:207
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Restrict... OMIM:607155
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Microcephaly ORPHA:398189
Desmosterolosis
Severe short stature, Microcephaly, Rigidity, Hydrocephalus, Growth delay, Hypertonia, Macrocepha... ORPHA:35107
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Delayed closure of the anterior fontanelle, Microcephaly, Aggressive beh... OMIM:607872
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Cachexia, Anorexia, Kyphosis, Scoliosis, Genu varum ORPHA:1969
Diastrophic Dysplasia
Joint dislocation, Camptodactyly of finger, Elbow dislocation, Cryptorchidism, Kyphosis, Abnormal... ORPHA:628
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Short stature, Babinski sign, Myoclonus, Truncal ataxia, Spasticity OMIM:252011
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Small for gestational age, Short stature, Microcephaly, Lateral ventric... OMIM:619869
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Craniosynostosis, Hydrocephalus, Facial paralysis, Macro... OMIM:259700
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones ORPHA:2773
Pelvis-Shoulder Dysplasia
Waddling gait, Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Spina bifida, Mesome... ORPHA:2839
Lowry-Maclean Syndrome
Craniosynostosis, Microcephaly, Bilateral cryptorchidism, Hydrocephalus, Hemiparesis, Small anter... ORPHA:2409
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Short stature, Microcephaly, Postnatal growth reta... OMIM:147920
Mucopolysaccharidosis, Type Iva
Waddling gait, Ulnar deviation of the wrist, Ovoid vertebral bodies, Short neck, Hyperlordosis, H... OMIM:253000
Joubert Syndrome 16
Encephalocele, Oculomotor apraxia, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Sialidosis Type 1
Ataxia, Short stature, Tremor, Kyphosis, Slurred speech, Abnormal form of the vertebral bodies, G... ORPHA:812
Episodic Ataxia, Type 5
Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia OMIM:613855
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Bulbous nose, Wide nasal bridge, Respiratory insuffi... ORPHA:1237
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Sudden episodic apnea, Weakness due to upper motor neuron dysfunction, Kyp... ORPHA:466722
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Impulsivity, Akinesia, Rigidity, Depression, Bradykinesia, Weight l... ORPHA:411602
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Intellectual Developmental Disorder, Autosomal Dominant 70
Microcephaly, Hypoplasia of the pons, Hydrocephalus, Postnatal macrocephaly, Failure to thrive OMIM:620157
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Unsteady gait, Ataxia, Scoliosis OMIM:300861
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Restlessness, Pain insensitivity, Involuntary movements, Oral-pharyngeal dy... OMIM:615273
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Short stature, Short neck, Postnatal growth retardation, Tachypnea, La... OMIM:613320
Pyridoxal Phosphate-Responsive Seizures
Microcephaly, Unsteady gait, Hypertonia, Decreased CSF homovanillic acid concentration, Myoclonus... ORPHA:79096
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Arthrogryposis, Distal, Type 5
Short stature, Limited wrist extension, Reduced forced expiratory volume in one second, Kyphosis,... OMIM:108145
Desbuquois Dysplasia 1
Waddling gait, Joint dislocation, Neonatal respiratory distress, Severe short stature, Phalangeal... OMIM:251450
Multiple Mitochondrial Dysfunctions Syndrome 1
Spastic tetraparesis, Respiratory insufficiency, Increased CSF lactate, Opisthotonus, Respiratory... OMIM:605711
Oxoglutaric Aciduria
Hydrocephalus, Hypertonia, Ataxia, Short stature ORPHA:31
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morphology, Ventriculo... ORPHA:370997
Mosaic Variegated Aneuploidy Syndrome 1
Small for gestational age, Short stature, Microcephaly, Short neck, Cryptorchidism, Hydrocephalus... OMIM:257300
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Reduced vital capacity, Parkinsonism, Tremor, Depression, Fasciculations, Difficulty w... ORPHA:329478
Neurodevelopmental Disorder With Spasticity And Poor Growth
Ataxia, Clonus, Short stature, Babinski sign, Opisthotonus, Knee flexion contracture, Irritabilit... OMIM:618076
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea, Short stature, Hyperlordosis, Short neck, Microcephaly, Kyp... OMIM:314580
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Cryptorchidism, Restrictive ventilatory defe... OMIM:618484
Machado-Joseph Disease Type 3
Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign,... ORPHA:276244
Thalidomide Embryopathy
Chronic rhinitis ORPHA:3312
Spinocerebellar Ataxia 34
Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp... OMIM:133190
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... ORPHA:90065
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Colpocephaly, Macrocephaly, Agenesis of... OMIM:615219
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Ataxia, Microcephaly, Loss of ability to walk in first decade, Dysphagia, Hyperkinetic movements,... OMIM:300243
Spondyloepiphyseal Dysplasia Congenita
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow move... ORPHA:94068
Hennekam-Beemer Syndrome
Short stature, Pneumonia, Camptodactyly of finger, Microcephaly, Delayed cranial suture closure, ... ORPHA:2135
Wolman Disease
Growth delay, Cachexia ORPHA:75233
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Apnea, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Biparietal narro... ORPHA:1454
Foxg1 Syndrome Due To 14Q12 Microdeletion
Prominent metopic ridge, Microcephaly, Kyphosis, Growth delay, Agenesis of corpus callosum, Scoli... ORPHA:261144
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Delayed puberty, Scoliosis, Microcephaly ORPHA:2598
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Babinski sign, Impaired d... OMIM:607459
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Myoclonus OMIM:254800
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Ataxia, Short neck, Microcephaly, Kyphosis, Oral-pharyngeal dysphagia, Tremor, Pro... OMIM:300966
Weiss-Kruszka Syndrome
Prominent metopic ridge, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Spinocerebellar Ataxia Type 13
Torticollis, Short stature, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Bradyk... ORPHA:98768
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Joubert Syndrome 28
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI OMIM:617121
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Impaired distal vibration sensation, Distal sensory impairment, Steppage gait, Tip-toe gait, Fasc... OMIM:614436
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Paresthesia, Anorexia OMIM:175500
Rhabdoid Tumor
Cerebral palsy, Respiratory insufficiency, Weight loss, Irritability, Hemiplegia ORPHA:69077
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Slender build, Chorea, Myoclonus, Scoliosis, Attention deficit hyp... OMIM:617600
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Kyphosis, Colpocephaly, Biparietal narrowing, Scoliosis, Dysphagia, Ventriculomegaly ORPHA:261250
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Kinked brain... OMIM:617822
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Short neck, Microcephaly, Platyspondyly, Wormian bones, Intrauterine g... OMIM:616897
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Ventriculomegaly, Exaggerated startle response, Apnea, Rigidity, Kyphosis, Cessation of head grow... OMIM:617527
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Short neck, Hydrocephalus, Platyspondyly, Disproportionate short-l... OMIM:187600
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hydrocephalus, Hemivertebrae, Growth delay, Agenesis of corpus callosum, Holopros... ORPHA:77298
Sifrim-Hitz-Weiss Syndrome
Hypogonadotropic hypogonadism, Short stature, Cryptorchidism, Flat acetabular roof, Fused cervica... OMIM:617159
Pontocerebellar Hypoplasia, Type 17
Hypoplasia of the pons, Kyphosis, Spastic tetraplegia, Respiratory insufficiency, Hypoplasia of t... OMIM:619909
Griscelli Syndrome
Encephalocele, Abnormality of neutrophils, Splenomegaly, Hydrocephalus, Hepatitis, Lymphadenopath... ORPHA:381
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Ovoid vertebral bodies, Short neck, Wide anterior fontanel, Abnormality of the elbow, Flat acetab... ORPHA:163649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Respiratory insufficiency, Hypoplasia of th... OMIM:253800
Shashi-Pena Syndrome
Kyphosis, Mild fetal ventriculomegaly, Scoliosis, Macrocephaly, Cervical C2/C3 vertebral fusion, ... OMIM:617190
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Ataxia, Short stature, Short neck, Microcephaly, Postnatal growth re... ORPHA:168577
Desmoplastic Small Round Cell Tumor
Cachexia, Testicular neoplasm, Weight loss ORPHA:83469
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Cryptorchidism... OMIM:310400
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Large for gestational age, Kyphosis, Wide anterior fontanel, Macrocephaly OMIM:618272
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Aggressive behavior, Chorea, Spastic tetraplegia, Gait ataxia, Irritability, Myoclonus, L... OMIM:618321
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, Opisthotonus, Hypertonia, Abnormal repeti... ORPHA:508533
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism, Obesity OMIM:601794
Magel2-Related Prader-Willi-Like Syndrome
Short stature, Impulsivity, Impaired temperature sensation, Cryptorchidism, Kyphosis, Increased b... ORPHA:398069
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Knee contracture, ... OMIM:620351
Smith-Mccort Dysplasia 1
Waddling gait, Short stature, Short neck, Microcephaly, Hypoplasia of the odontoid process, Kypho... OMIM:607326
Congenital Sialidosis Type 2
Ataxia, Hydrocephalus, Dysmetria, Myoclonus, Macrocephaly, Spasticity ORPHA:93400
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Short Stature-Wormian Bones-Dextrocardia Syndrome
Short stature, Camptodactyly of finger, Cryptorchidism, Wormian bones, Spasticity ORPHA:2863
Hereditary Hyperekplexia
Joint dislocation, Ataxia, Rigidity, Hip dislocation, Hypertonia, Gait disturbance, Myoclonus, Fa... ORPHA:3197
Osteopetrosis, Autosomal Recessive 5
Short stature, Clonus, Microcephaly, Hydrocephalus, Spastic tetraplegia, Growth delay, Irritabili... OMIM:259720
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Cryptorchidism, Kyphosis, Obesity, ... ORPHA:3085
Coffin-Siris Syndrome 6
Short stature, Kyphoscoliosis, Tics, Attention deficit hyperactivity disorder, Wormian bones, Abn... OMIM:617808
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger, Microcephaly, Sh... ORPHA:2311
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory failure, Abnormal... OMIM:614299
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Ataxia, Recurrent... ORPHA:496641
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Rigidity, Respiratory insufficiency, Myoclonus, Failure to thrive... OMIM:300673
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Prader-Willi Syndrome
Hypoventilation, Hypogonadotropic hypogonadism, Short stature, Cryptorchidism, Poor gross motor c... OMIM:176270
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Abnormal brainstem MRI signal intensity, Congestive heart failure... ORPHA:444013
Myopathy, Centronuclear, 2
Waddling gait, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphosis, Scolios... OMIM:255200
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency, Cardiomyopathy, Arrhyt... ORPHA:2119
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Kyphosis, Short neck OMIM:618393
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Weight loss, Co... ORPHA:50251
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Recurrent upper respiratory tract infections, Conjunctivitis, Pe... OMIM:217090
Heart Defects-Limb Shortening Syndrome
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... ORPHA:1354
Rett Syndrome, Congenital Variant
Kyphosis, Chorea, Tongue thrusting, Irritability, Athetosis, Scoliosis, Bruxism, Aspiration, Spas... OMIM:613454
Monosomy 18Q
Short stature, Kyphoscoliosis, Microcephaly, Bilateral cryptorchidism, Hydrocephalus, Poor coordi... ORPHA:1600
Muenke Syndrome
Tarsal synostosis, Hydrocephalus, Macrocephaly, Carpal synostosis, Coronal craniosynostosis ORPHA:53271
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint dislocation, Repeated pneumothoraces, Large joint dislocatio... ORPHA:536467
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Decreased fertility, Fasciculations, Dysphagia, Testicular atrophy OMIM:313200
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Skin rash, Aplastic anemia, Maculopapular exanthema, Thrombocytop... ORPHA:398124
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... ORPHA:1908
Developmental And Epileptic Encephalopathy 23
Hypoplasia of the pons, Myoclonus OMIM:615859
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Chiari malformation, Cerebral ischemia, Aplasia/Hypopl... ORPHA:60040
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Low frustration ... ORPHA:168491
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Microcephaly, Aggressive behavior, Inability to walk, Tr... ORPHA:72
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Poliomyelitis
Respiratory failure requiring assisted ventilation, Anorexia, Paralysis, Inability to walk, Parap... ORPHA:2912
Clark-Baraitser syndrome
Genu recurvatum, Kyphosis, Obesity, Genu valgum, Scoliosis, Macrocephaly, Macroorchidism OMIM:300602
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, Short stature, Spasticity ORPHA:1946
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Episodic ataxia, Myoclonus, Morning myoclonic jerks, Truncal ataxia OMIM:607682
Spastic Tetraplegia And Axial Hypotonia, Progressive
Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,... OMIM:618598
15Q24 Microdeletion Syndrome
Small for gestational age, Short stature, Microcephaly, Postnatal growth retardation, Cryptorchid... ORPHA:94065
Cole-Carpenter Syndrome
Communicating hydrocephalus, Short stature, Kyphosis, Abnormal form of the vertebral bodies, Scol... ORPHA:2050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Encephalocele, Partial absence of cerebellar vermis, Hydrocephalus, Hypopla... OMIM:613150
Mend Syndrome
Sacral dimple, Hyperactivity, Short stature, Aggressive behavior, Cryptorchidism, Hydrocephalus, ... ORPHA:401973
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Mild postnatal growth retardation, Short stature, Cryptorchidism, Hydr... OMIM:101800
Classic Hodgkin Lymphoma
Ataxia, Anorexia, Respiratory insufficiency, Weight loss, Cough ORPHA:391
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Hemangioblastoma
Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma ORPHA:252054
Microcephaly-Micromelia Syndrome
Craniosynostosis, Short neck, Aqueductal stenosis, Microcephaly, Humeroradial synostosis, Intraut... OMIM:251230
Osteogenesis Imperfecta, Type V
Short stature, Vertebral wedging, Platyspondyly, Wormian bones, Anterior radial head dislocation,... OMIM:610967
Genitopalatocardiac Syndrome
Microcephaly, Cryptorchidism, Hydrocephalus, Kyphosis, Scoliosis, Intrauterine growth retardation ORPHA:2075
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Exaggerated startle response, Clonus, Microcephaly, Myoclonus, Spasticity, ... OMIM:618201
Coach Syndrome 3
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI OMIM:619113
Holoprosencephaly 14
Microcephaly, Aqueductal stenosis, Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of t... OMIM:619895
Marshall-Smith Syndrome
Thoracic scoliosis, Apnea, Bilateral cryptorchidism, Hypertonia, Thoracic kyphosis, Aspiration pn... OMIM:602535
Mucopolysaccharidosis Type 1
Joint dislocation, Sinusitis, Apnea, Short stature, Hemiplegia/hemiparesis, Hydrocephalus, Spinal... ORPHA:579
Ruvalcaba Syndrome
Short stature, Microcephaly, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty, Limited elbow ... OMIM:180870
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow ... OMIM:183900
Osteogenesis Imperfecta
Cervical kyphosis, Osteoarthritis, Abnormal form of the vertebral bodies, Brain stem compression,... ORPHA:666
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Pain insensitivity, Congenital hip dislocation, Short stature, Hyperlordosis, Hypoplasia of the o... OMIM:616007
Erythrokeratodermia Variabilis
Weight loss, Abnormal testis morphology, Short stature, Microcephaly ORPHA:317
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Microcephaly, Respiratory insuffi... ORPHA:352447
Isolated Posterior Meningocele
Occipital meningocele, Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube ... ORPHA:268810
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Short ... ORPHA:98863
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
White-Sutton Syndrome
Waddling gait, Hyperactivity, Short stature, Short neck, Microcephaly, Aggressive behavior, Obesi... OMIM:616364
Bruck Syndrome
Short stature, Kyphosis, Respiratory insufficiency, Platyspondyly, Scoliosis, Wormian bones, Pter... ORPHA:2771
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Limb hypertonia ORPHA:324588
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
Mucopolysaccharidosis, Type Ii
Severe short stature, Short stature, Short neck, Kyphosis, Asthma, Hydrocephalus, Recurrent pneum... OMIM:309900
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Atrial fibrillation, Tricuspid regurgitation, Supraventricular arrhythmia, Postnatal g... ORPHA:75249
Distal Triplication 15Q
Craniosynostosis, Large for gestational age, Kyphosis, Hydrocephalus, Hydrocele testis, Scoliosis... ORPHA:314588
B4Galt1-Cdg
Inflammatory abnormality of the skin, Splenomegaly, Hydrocephalus, Wide nasal bridge, Dandy-Walke... ORPHA:79332
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Severe short stature, Short neck, Microcephaly, Cryptorchidism, Hydrocephalus, Res... ORPHA:1865
Diabetic Embryopathy
Microcephaly, Cryptorchidism, Abnormal sacrum morphology, Hydrocephalus, Spinal dysraphism, Verte... ORPHA:1926
6Q Terminal Deletion Syndrome
Prominent metopic ridge, Short neck, Obesity, Dysmetria, Gait ataxia, Colpocephaly, Scoliosis, Ma... ORPHA:75857
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Inability to walk, Abnormal repetitive mannerisms, Myoclonus ORPHA:411986
Dural Sinus Malformation
Somatic sensory dysfunction, Ataxia, Parkinsonism, Myelopathy, Hydrocephalus, Poor coordination, ... ORPHA:97339
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Short stature, Postnatal growth retardation, Partial agenesis of the corpus callosum, Colpocephal... OMIM:620113
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Kyphosis, Hip dis... OMIM:254090
Cerebellofaciodental Syndrome
Short stature, Short neck, Microcephaly, Cryptorchidism, Aggressive behavior, Hypoplasia of the p... OMIM:616202
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Wormian bones OMIM:259440
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Short stature, Hypoplasia of the pons, Hypoplasia of the brainstem,... OMIM:618325
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Hyperactivity, Small for gestational age, Prominent metopic ridg... OMIM:610443
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Lumbar hyperlordosis, Ataxia, Repetitive compulsive behavior, Chorea, Self-biting,... ORPHA:522077
Benign Samaritan Congenital Myopathy
Lethargy, Abnormal respiratory system physiology, Fasciculations ORPHA:324581
Mirage Syndrome
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hydrocephalus, Paraplegia, Aspirat... OMIM:617053
Amoebiasis Due To Free-Living Amoebae
Restlessness, Sinusitis, Ataxia, Pneumonia, Abnormal cerebrospinal fluid morphology, Abnormal med... ORPHA:68
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hydrocephalus, Gait disturbance, Macrocephaly, Agenesis of corpus callosum, Ventr... ORPHA:1812
Myopathy, Myofibrillar, 2
Orthopnea, Respiratory insufficiency due to muscle weakness, Paradoxical respiration, Fasciculati... OMIM:608810
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ataxia, Postural tremor, Short stature, Microcephaly, Babinski sign, Truncal ataxia, Truncal obes... OMIM:301072
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Short stature, Hyperlordosis, Upper motor neuron dysfunction, Abnormality of the v... ORPHA:52430
Joubert Syndrome 8
Occipital encephalocele, Ataxia, Obesity, Hypertonia, Oculomotor apraxia, Molar tooth sign on MRI... OMIM:612291
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Ataxia, Myoclonus OMIM:620094
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Impaired vibration sensation in the lower limbs, Impaired p... ORPHA:88628
Mucopolysaccharidosis Type 3
Abnormal pyramidal sign, Abnormal form of the vertebral bodies, Hypertonia, Aspiration pneumonia,... ORPHA:581
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Apnea, Microcephaly, Rigidity, Kyphosis, Respiratory insufficiency,... ORPHA:521426
Congenital Disorder Of Glycosylation, Type Iil
Microcephaly, Hydrocephalus, Growth delay, Intrauterine growth retardation, Failure to thrive, Ve... OMIM:614576
Bruck Syndrome 1
Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow f... OMIM:259450
Mepan Syndrome
Ataxia, Chorea, Gait disturbance, Myoclonus, Dysphagia, Spasticity, Failure to thrive ORPHA:508093
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Subarachnoid hemorrhage, Abnormal brainstem morphology, Intracranial h... ORPHA:231160
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Wide anterior fontanel, Kyphosis, Disproportionate short-limb short stature,... OMIM:259420
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Short stature, Scoliosis, Macrocephaly ORPHA:109
Amyotrophic Lateral Sclerosis 5, Juvenile
Respiratory insufficiency due to muscle weakness, Babinski sign, Abnormal pyramidal sign, Fascicu... OMIM:602099
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Small for gestational age, Cubitus valgus, Cryptorchidism, W... OMIM:614866
Pseudoachondroplasia
Waddling gait, Lumbar hyperlordosis, Genu recurvatum, Ulnar deviation of the wrist, Hypoplasia of... OMIM:177170
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Microcephaly, Spinal rigidity, Dy... OMIM:615084
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Short stature ORPHA:2786
Lateral Meningocele Syndrome
Vertebral fusion, Short stature, Short neck, Cryptorchidism, Hydrocephalus, Kyphosis, Meningocele... OMIM:130720
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Short stature, Hydrocephalus, Abnormal brainstem morphology, Hypertonia ORPHA:2720
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Intrauterine growth retardation, Radioulnar synostosis, Abnormal form of the... ORPHA:1788
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Tetraplegia, Hand tremor, Distal sensory impairment, Gait disturbance, Fasciculations OMIM:604484
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Ataxia, Short stature, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Babinski s... OMIM:300232
Optic Pathway Glioma
Growth delay, Hydrocephalus ORPHA:2086
Lenz-Majewski Hyperostotic Dwarfism
Relative macrocephaly, Failure to thrive, Short stature, Delayed cranial suture closure, Microcep... OMIM:151050
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements ORPHA:209970
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Rhizomelia, Short neck, Abnormality of the elbow, Respiratory insufficiency, W... ORPHA:1842
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Reduced vital capacity, Short neck, Cryptorchidism, Kyphosis, Respiratory insufficiency, Scoliosis ORPHA:178148
Trisomy 1Q
Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum... ORPHA:261344
Tick-Borne Encephalitis
Back pain, Speech apraxia, Somatic sensory dysfunction, Incoordination, Abnormal medulla oblongat... ORPHA:297
Nephronophthisis 18
Tubulointerstitial nephritis, Hydrocephalus OMIM:615862
Monosomy 9Q22.3
Hyperactivity, Short neck, Large for gestational age, Kyphosis, Hydrocephalus, Abnormality of the... ORPHA:77301
Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphos... ORPHA:261
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb... OMIM:113000
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphos... ORPHA:98853
Rhombencephalosynapsis
Hydrocephalus, Ataxia, Ventriculomegaly, Macrocephaly ORPHA:59315
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Anteverted nares, Splenomegaly, Hydrocephalus, A... ORPHA:2969
Rabin-Pappas Syndrome
Hypoventilation, Retinal telangiectasia, Hypoplasia of the pons, Hydrocephalus, Chiari type I mal... OMIM:620155
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Ataxia, Babinski sign, Gait ataxia, Hyperkinetic movements, Loss of ambulation, Spasticity OMIM:620089
Kinsship Syndrome
Sacral dimple, Failure to thrive, Short stature, Spastic tetraparesis, Microcephaly, Short neck, ... OMIM:619297
Joubert Syndrome 35
Oculomotor apraxia, Elongated superior cerebellar peduncle, Ataxia, Molar tooth sign on MRI OMIM:618161
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Agenesis of corpus callosum, Spina bifida, Hyperlordosis, Cryptorchidism, Scol... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Agenesis of corpus callosum, Spina bifida, Hyperlordosis, Cryptorchidism, Scol... ORPHA:363958
Dubowitz Syndrome
Sacral dimple, Short stature, Craniosynostosis, Microcephaly, Postnatal growth retardation, Crypt... ORPHA:235
Hypomelanosis Of Ito
Kyphosis, Macrocephaly, Scoliosis, Microcephaly OMIM:300337
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggressive behavior, Tr... OMIM:612953
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcephaly, Kyphosis, Recurrent pneumonia, Scoliosis, Pulmonary arterial hypertension, Spastici... OMIM:616449
Marfan Syndrome
Arthralgia/arthritis, Spontaneous pneumothorax, Protrusio acetabuli, Cachexia, Limited elbow move... ORPHA:558
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Kyphosis, Gait ataxia, Secondary microcephaly, Compulsive behaviors,... ORPHA:476126
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Cerebral Visual Impairment
Cerebral palsy, Microcephaly, Hydrocephalus, Clumsiness, Attention deficit hyperactivity disorder... ORPHA:447788
Uruguay Faciocardiomusculoskeletal Syndrome
Waddling gait, Congenital hip dislocation, Kyphoscoliosis, Limited elbow movement, Kyphosis, Diff... OMIM:300280
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Inability to walk, Kyphosis, Babinski sign, Spastic paraplegia, Ank... OMIM:609541
Amyotrophic Lateral Sclerosis 8
Postural tremor, Abnormal pyramidal sign, Fasciculations, Dysphagia, Loss of ambulation OMIM:608627
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short stature, Short neck, Hydrocephalus, Abnormal form of the vertebral... ORPHA:1834
Cockayne Syndrome Type 2
Lower limb spasticity, Ataxia, Kyphosis, Cryptorchidism, Gait disturbance, Scoliosis, Difficulty ... ORPHA:90322
Parietal Foramina 1
Encephalocele, Wormian bones, Macrocephaly OMIM:168500
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Fasciculations OMIM:608030
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hemivert... ORPHA:3412
Typical Nemaline Myopathy
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Hip dislocation, Respiratory... ORPHA:171436
Pycnodysostosis
Persistent open anterior fontanelle, Rhizomelia, Delayed cranial suture closure, Hyperlordosis, O... ORPHA:763
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Kyphosis, Scoliosis, Bicoronal synostosis OMIM:619951
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Kyphosis, Compulsive behaviors, Scoliosis OMIM:615761
Thyrocerebrorenal Syndrome
Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia ORPHA:3327
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia ORPHA:276183
Galactose Epimerase Deficiency
Growth delay, Weight loss ORPHA:79238
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Gait disturbance, Shuffling gai... OMIM:168601
Multifocal Motor Neuropathy
Increased CSF protein concentration, Fasciculations, Limited wrist extension ORPHA:641
Amyotrophic Lateral Sclerosis 18
Spasticity, Fasciculations, Dysphagia OMIM:614808
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Intrauterine growth retardation, Abnormally ossified vertebrae ORPHA:3035
D-Glyceric Aciduria
Neonatal respiratory distress, Microcephaly, Tongue thrusting, Spastic tetraplegia, Opisthotonus,... OMIM:220120
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Craniosynostosis, Hydrocepha... ORPHA:314585
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Fasciculations, Distal sensory impairment OMIM:137200
Norrie Disease
Clonus, Cachexia, Microcephaly, Cryptorchidism, Irritability, Self-injurious behavior, Hypertonia... ORPHA:649
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Amyotrophic Lateral Sclerosis 1
Pseudobulbar paralysis, Fasciculations, Spasticity, Dysphagia OMIM:105400
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Short neck, Hydrocephalus, Growth delay, Hypogonadism, Intrauteri... OMIM:300514
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Anorexia, Nonproductive cough, Dyspnea, W... ORPHA:1302
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Hydrocephalus, Cerebellar hypoplasia, Intrauterine growth retardation ORPHA:163966
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Sacral dimple, Anencephaly, Molar tooth sign o... OMIM:614175
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation, Platyspondyly OMIM:263520
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Hydrocephalus, Hemivertebrae, Dandy-Walker malformation OMIM:220210
Intellectual Developmental Disorder, Autosomal Dominant 57
Short stature, Craniosynostosis, Microcephaly, Kyphosis, Contracture of the proximal interphalang... OMIM:618050
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Disinhibition, Fasciculations, Dysphagia OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Disinhibition, Fasciculations, Dysphagia OMIM:616437
Riddle Syndrome
Ataxia, Pneumonia, Short stature, Microcephaly, Neonatal asphyxia, Recurrent pneumonia, Weight lo... ORPHA:420741
Apert Syndrome
Delayed cranial suture closure, Limited elbow movement, Sagittal craniosynostosis, Craniosynostos... OMIM:101200
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Hypoesthesia, Weight loss, Distal sensory impairment, Dysphagia, Slender build OMIM:603041
Fanconi Anemia, Complementation Group R
Growth delay, Hydrocephalus, Scoliosis, Microcephaly OMIM:617244
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Small for gestational age, Ankle flexion contracture, Microcephaly... ORPHA:464311
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio... OMIM:313400
Stickler Syndrome
Joint dislocation, Short stature, Protrusio acetabuli, Cachexia, Kyphosis, Hemiplegia/hemiparesis... ORPHA:828
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Microcephaly, Aggressive behavior, Kyphosis, Tremor, Dysphagia, Self-injuriou... OMIM:617061
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Scoliosis OMIM:618234
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Cryptorchidism, Hydrocephalus, Hemiplegia/hemiparesis, Dandy-Walker m... ORPHA:1647
Tetrasomy 15Q26
Intrauterine growth retardation, Hydrocephalus, Kyphoscoliosis, Dandy-Walker malformation OMIM:614846
Scapuloperoneal Spinal Muscular Atrophy
Broad-based gait, Torticollis, Hyperlordosis, Kyphosis, Respiratory insufficiency, Distal sensory... OMIM:181405
De Barsy Syndrome
Congenital hip dislocation, Short stature, Kyphoscoliosis, Delayed closure of the anterior fontan... ORPHA:2962
Chromosome 6Pter-P24 Deletion Syndrome
Short neck, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Nipah Virus Disease
Respiratory distress, Anorexia, Tremor, Myoclonus, Cough ORPHA:99825
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus, Dysphagia ORPHA:324708
Joubert Syndrome 22
Oculomotor apraxia, Intrauterine growth retardation, Molar tooth sign on MRI OMIM:615665
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis, Macrocephaly OMIM:300676
Mucopolysaccharidosis, Type Ivb
Ataxia, Ovoid vertebral bodies, Ulnar deviation of the wrist, Hyperlordosis, Hypoplasia of the od... OMIM:253010
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Bile duct proliferation, Dandy-Walker malformation OMIM:607361
Microcephaly-Capillary Malformation Syndrome
Small for gestational age, Short stature, Spastic tetraparesis, Extra-axial cerebrospinal fluid a... OMIM:614261
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation, Hip contracture, Short stature, Microcephaly, Kyphosis, Inability to walk, Recur... OMIM:618493
Walker-Warburg Syndrome
Microcephaly, Cryptorchidism, Hydrocephalus, Macrocephaly, Dandy-Walker malformation, Agenesis of... ORPHA:899
Mend Syndrome
Sacral dimple, Hyperactivity, Short stature, Cryptorchidism, Hydrocephalus, Kyphosis, Small anter... OMIM:300960
Subaortic Stenosis-Short Stature Syndrome
Short stature, Short neck, Kyphosis, Obesity, Respiratory insufficiency, Scoliosis, Synostosis of... ORPHA:3191
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Wide anterior fontanel, Platyspondyly, Macrocephaly OMIM:601356
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Parkinsonian-Pyramidal Syndrome
Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradyki... ORPHA:171695
Coffin-Lowry Syndrome
Short stature, Microcephaly, Kyphosis, Abnormal form of the vertebral bodies, Self-injurious beha... ORPHA:192
Combined Oxidative Phosphorylation Deficiency 14
Microcephaly, Increased CSF lactate, Growth delay, Myoclonus, Atrophy/Degeneration affecting the ... OMIM:614946
Fatal Familial Insomnia
Apnea, Ataxia, Weight loss, Myoclonus, Dysphagia OMIM:600072
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Short stature, Pneumonia, Ovoid vertebral bodies, Kyphoscoliosis, Anterior ... OMIM:253200
Crisponi Syndrome
Camptodactyly of finger, Kyphosis, Respiratory insufficiency, Hypertonia, Scoliosis ORPHA:1545
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Megalocornea-Intellectual Disability Syndrome
Ataxia, Short stature, Microcephaly, Kyphosis, Scoliosis, Macrocephaly, Abnormal repetitive manne... ORPHA:2479
Nijmegen Breakage Syndrome
Short stature, Cachexia, Short neck, Microcephaly, Recurrent pneumonia, Respiratory failure, Atte... ORPHA:647
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Patellar hypoplasia, Neonatal... OMIM:114290
Orofaciodigital Syndrome Type 6
Ataxia, Apnea, Episodic tachypnea, Short stature, Bilateral cryptorchidism, Tremor, Growth delay,... ORPHA:2754
Hereditary Sensory And Autonomic Neuropathy Type 2
Wormian bones, Abnormality of the knee, Abnormality of the ankle, Hyperlordosis ORPHA:970
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Growth delay, R... ORPHA:445038
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Craniosynostosis, Kyphosis, Hydrocephalus, Macrocephaly, Intrauter... OMIM:616914
Chromosome 17P13.1 Deletion Syndrome
Sacral dimple, Spina bifida, Short neck, Microcephaly, Hydrocephalus, Elbow flexion contracture, ... OMIM:613776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Cryptorchidism, Meningoencephalocele, Hydrocephalus, H... OMIM:236670
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Hydrocephaly-Low Insertion Umbilicus Syndrome
Long nose, Wide nose, Communicating hydrocephalus ORPHA:2184
Mucopolysaccharidosis Type 4
Joint dislocation, Short stature, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Gen... ORPHA:582
Koolen-De Vries Syndrome
Vertebral fusion, Short stature, Microcephaly, Cryptorchidism, Kyphosis, Hip dislocation, Vertebr... ORPHA:96169
Cardiofaciocutaneous Syndrome 1
Relative macrocephaly, Short stature, Short neck, Hydrocephalus, Tongue thrusting, Hypertonia, Sc... OMIM:115150
D-Glyceric Aciduria
Microcephaly, Chorea, Myoclonus, Increased CSF glycine concentration, Spasticity, Progressive mic... ORPHA:941
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Ataxia-Telangiectasia
Sinusitis, Female hypogonadism, Ataxia, Short stature, Microcephaly, Tremor, Inability to walk, S... OMIM:208900
Osteopathia Striata With Cranial Sclerosis
Failure to thrive, Apnea, Short stature, Delayed closure of the anterior fontanelle, Thoracolumba... OMIM:300373
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyp... ORPHA:457359
Celiac Disease, Susceptibility To, 1
Ataxia, Short stature, Postnatal growth retardation, Weight loss, Depression, Infertility, Delaye... OMIM:212750
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Congestive heart failure... OMIM:261740
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Wormian bones, Short stature, Waddling gait ORPHA:2788
Molybdenum Cofactor Deficiency, Complementation Group B
Microcephaly, Spastic tetraplegia, Opisthotonus, Growth delay, Irritability, Hypertonia, Myocloni... OMIM:252160
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Elbow flexion contracture, Ob... ORPHA:98855
Marden-Walker Syndrome
Severe short stature, Camptodactyly of finger, Microcephaly, Kyphosis, Hydrocephalus, Abnormal fo... ORPHA:2461
Mucolipidosis Iii Gamma
Short stature, Hyperlordosis, Short neck, Kyphosis, Genu valgum, Scoliosis OMIM:252605
Alpha-Mannosidosis
Short neck, Kyphosis, Arthritis, Scoliosis, Macrocephaly, Synostosis of joints ORPHA:61
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Dysphagia, Weight ... ORPHA:142
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Wormian bones, Disproportionate short-limb short stature, Microcephaly OMIM:259410
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Scoliosis ORPHA:1548
Crouzon Syndrome
Sagittal craniosynostosis, Hydrocephalus, Lambdoidal craniosynostosis, Coronal craniosynostosis, ... OMIM:123500
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short stature, Short neck, Kyphosis, Hip dislocation, Respira... ORPHA:140
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Microcephaly, Kyphosis, Abnormality of the elbow, Hip dislocation, Moderate... ORPHA:1005
Congenital Disorder Of Glycosylation, Type Ia
Dilated fourth ventricle, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Ataxia... OMIM:212065
Autosomal Recessive Spastic Paraplegia Type 35
Lower limb spasticity, Spastic tetraparesis, Kyphosis, Babinski sign, Spastic paraplegia, Dysmetr... ORPHA:171629
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Hydroc... ORPHA:91348
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... ORPHA:1164
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Aggressive behavior, Microcephaly, Unsteady gait, Increased CSF lact... ORPHA:17
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Relative macrocephaly, Speech apraxia, Ataxia, Kyphoscoliosis, Aggressive behavior, Impulsivity, ... OMIM:300967
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... ORPHA:79127
Menkes Disease
Short stature, Microcephaly, Babinski sign, Hypertonia, Wormian bones, Intrauterine growth retard... OMIM:309400
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Short stature, Microcephaly, Respiratory insufficiency, Colpocephaly, Agenesis of corpus callosum... OMIM:617260
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia, Weight loss OMIM:275000
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Dysphagia ORPHA:2198
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Short stature, Impaired pain sensation, Cryptorchidism, Inability to walk, Brux... ORPHA:261537
Inclusion Body Myopathy And Brain White Matter Abnormalities
Low back pain, Babinski sign, Fasciculations OMIM:619733
Meningioma
Back pain, Hemifacial spasm, Abnormal central motor function, Hypogonadotropic hypogonadism, Atax... ORPHA:2495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Hydrocephalus, Ventriculomegaly OMIM:616538
Alzheimer Disease 3
Spastic tetraparesis, Babinski sign, Gait disturbance, Myoclonus, Abnormality of extrapyramidal m... OMIM:607822
Joubert Syndrome 40
Oculomotor apraxia, Molar tooth sign on MRI OMIM:619582
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Re... OMIM:300991
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Hyperlordosis, Large for gestational age, Kyphosis, Gait ataxia, Sco... OMIM:617011
Juvenile Sialidosis Type 2
Lower limb spasticity, Ataxia, Dysmetria, Abnormal form of the vertebral bodies, Myoclonus, Dysph... ORPHA:93399
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal curvature of the vertebral column, Compulsive behaviors, Aspiration, Abnormal repetitive... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal curvature of the vertebral column, Compulsive behaviors, Aspiration, Abnormal repetitive... ORPHA:353277
Intellectual Disability-Developmental Delay-Contractures Syndrome
Oculomotor apraxia, Kyphosis, Scoliosis ORPHA:3454
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Kyphosis, Elbow flexion contracture OMIM:618138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... OMIM:615287
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia, Macrocephaly, Mild short stature, Failure to thrive OMIM:169400
Apert Syndrome
Hydrocephalus, Large fontanelles, Cervical C5/C6 vertebrae fusion, Respiratory insufficiency, Ver... ORPHA:87
Arachnoiditis
Hydrocephalus ORPHA:137817
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Short stature, Central hypoventilation, Abnormal midbrain morphology, Aggressive... ORPHA:293987
Dyggve-Melchior-Clausen Disease
Waddling gait, Lumbar hyperlordosis, Short neck, Microcephaly, Hypoplasia of the odontoid process... OMIM:223800
Ruvalcaba Syndrome
Microcephaly, Cryptorchidism, Kyphosis, Abnormality of the elbow, Scoliosis, Delayed puberty, Abn... ORPHA:3121
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Craniosynostosis, Microcephaly, Cryptorchidism, Hydrocephalus, Wide anterior fon... OMIM:182212
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Fused cervical vertebrae ORPHA:2522
Rheumatic Fever
Sinusitis, Epistaxis, Anorexia, Chorea, Respiratory insufficiency, Arthritis, Gait disturbance, F... ORPHA:3099
Urban-Rogers-Meyer Syndrome
Short stature, Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosis, Obesity, Hypogonadism ORPHA:3409
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Morbilliform rash, Cough, Mediastinal lymphadeno... ORPHA:228123
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Wide anterior fontanel, Hydrocephalus, Humeroradial synostosis, Upper airway obstruction, Lambdoi... OMIM:207410
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Wide cranial sutures, Short stature, Postnatal growth retardation, Enl... ORPHA:289157
Cousin Syndrome
Rhizomelia, Dislocation of the femoral head, Short neck, Hydrocephalus, Humeroradial synostosis, ... OMIM:260660
Sialuria
Neuropathic spinal arthropathy, Hyperkinetic movements, Upper airway obstruction, Attention defic... ORPHA:3166
Hajdu-Cheney Syndrome
Short stature, Kyphoscoliosis, Short neck, Cryptorchidism, Hydrocephalus, Tall lumbar vertebral b... OMIM:102500
Aymé-Gripp Syndrome
Prominent metopic ridge, Short stature, Delayed cranial suture closure, Craniosynostosis, Postnat... ORPHA:1272
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Apnea, Camptodactyly of finger, Craniosynostosis, Microcephaly, Elbo... ORPHA:2462
Hydrolethalus
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Anencephaly ORPHA:2189
Lhermitte-Duclos Disease
Hydrocephalus, Ataxia, Macrocephaly ORPHA:65285
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Severe short stature, Short neck, Hydrocephalus, Advanced ossification of carpal b... OMIM:224400
Hip Dysplasia, Beukes Type
Kyphosis, Osteoarthritis, Scoliosis ORPHA:2114
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Myoclonus, Intention tremor OMIM:610539
Peho Syndrome
Microcephaly, Hydrocephalus, Biparietal narrowing, Atrophy/Degeneration affecting the brainstem, ... ORPHA:2836
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Scalp-Ear-Nipple Syndrome
Lateral ventricle dilatation, Short stature OMIM:181270
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Ataxia, Growth delay, Oculomotor apraxia, Spasticity, Mol... OMIM:216360
Grant Syndrome
Joint dislocation, Wormian bones, Large fontanelles, Short stature ORPHA:2097
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Small for gestational age, Short stature, Microcephaly, Cryptorchidism, Kyphosis, ... ORPHA:464306
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Bicoronal synostosis ORPHA:93258
Hurler Syndrome
Short stature, Short neck, Hypoplasia of the odontoid process, Hydrocephalus, Kyphosis, Macroceph... OMIM:607014
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Short stature, Rhizomelia, Craniosynostosis, Short neck, Hydrocephalus, Multiple joint dislocatio... OMIM:245600
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Prominent metopic ridge, Olivopontocerebellar hypoplasia, Hydrocephalus, Scoliosis... ORPHA:457284
Stiff-Person Syndrome
Exaggerated startle response, Lumbar hyperlordosis, Rigidity, Opisthotonus, Depression, Myoclonic... OMIM:184850
Developmental And Epileptic Encephalopathy 100
Chorea, Bilateral camptodactyly, Elbow flexion contracture, Gait ataxia, Choreoathetosis, Myoclon... OMIM:619777
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Short stature, Scoliosis ORPHA:1858
Postpoliomyelitis Syndrome
Hypoventilation, Abnormal joint morphology, Respiratory insufficiency, Fasciculations, Dysphagia ORPHA:2942
Pseudotrisomy 13 Syndrome
Encephalocele, Microcephaly, Cryptorchidism, Hydrocephalus, Hemivertebrae, Holoprosencephaly, Age... OMIM:264480
Neurooculorenal Syndrome
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Postnatal growth retardation, Partial agenesi... OMIM:620305
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Failure to thrive in infancy, Pneumonia, Cachexia, Interstitial pneumonitis ORPHA:37042
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Inability to walk, Broad-based gait, Myoclonus, Respiratory insufficiency OMIM:616158
Lenz-Majewski Hyperostotic Dwarfism
Severe short stature, Cryptorchidism, Hydrocephalus, Kyphosis, Large fontanelles, Agenesis of cor... ORPHA:2658
Congenital Disorder Of Glycosylation, Type Il
Short neck, Microcephaly, Kyphosis, Hip dislocation, Failure to thrive OMIM:608776
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Large fontanelles, Respiratory insufficiency, Platyspondyly, Dispropor... OMIM:166210
Osteogenesis Imperfecta, Type Xiii
Short stature, Kyphoscoliosis, Platyspondyly, Scoliosis, Decreased body weight, Wormian bones, Li... OMIM:614856
Thyrocerebroretinal Syndrome
Slurred speech, Ataxia, Myoclonus OMIM:274240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of the brainste... OMIM:614643
Pfeiffer Syndrome Type 2
Respiratory distress, Aqueductal stenosis, Hydrocephalus, Chiari malformation, Tracheomalacia ORPHA:93259
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus, Dysphagia OMIM:619780
Craniometadiaphyseal Dysplasia
Short stature, Wide anterior fontanel, Genu valgum, Scoliosis, Macrocephaly, Wormian bones, Cubit... OMIM:269300
Lessel-Kreienkamp Syndrome
Wide cranial sutures, Abnormal pattern of respiration, Attention deficit hyperactivity disorder, ... OMIM:619149
Joubert Syndrome 17
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Hyperventilation OMIM:614615
Osteogenesis Imperfecta, Type Xi
Short stature, Protrusio acetabuli, Kyphoscoliosis, Vertebral wedging, Biconcave vertebral bodies... OMIM:610968
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Clonus, Microcephaly, Spastic tetraplegia, Increased CSF lactate, Myoc... OMIM:619055
Cardiofaciocutaneous Syndrome
Failure to thrive in infancy, Short stature, Short neck, Cryptorchidism, Hydrocephalus, Genu valg... ORPHA:1340
Congenital Disorder Of Glycosylation, Type Iim
Intrauterine growth retardation, Lateral ventricle dilatation, Microcephaly OMIM:300896
Spondylometaphyseal Dysplasia, Pagnamenta Type
Wormian bones, Rhizomelia, Platyspondyly, Thoracic kyphosis OMIM:619638
Dystonia 26, Myoclonic
Blepharospasm, Torticollis, Myoclonus, Depression OMIM:616398
Jacobsen Syndrome
Short neck, Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Macrocephaly, Intraut... OMIM:147791
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Short stature, Bilateral cryptorchidism, Kyphosis, Hydrocephalus, Abnormal form ... ORPHA:3042
Kabuki Syndrome
Short stature, Microcephaly, Cryptorchidism, Hydrocephalus, Vertebral clefting, Hemivertebrae, Ob... ORPHA:2322
Idiopathic Congenital Hypothyroidism
Lethargy, Large posterior fontanelle, Delayed cranial suture closure ORPHA:95717
Alg1-Cdg
Kyphosis, Respiratory failure, Scoliosis, Progressive microcephaly ORPHA:79327
Cutis Laxa, Autosomal Dominant 3
Os odontoideum, Microcephaly, Postnatal growth retardation, Hip dislocation, Wormian bones, Intra... OMIM:616603
Isolated Thyroid-Stimulating Hormone Deficiency
Large posterior fontanelle, Depression, Clumsiness, Growth delay, Attention deficit hyperactivity... ORPHA:90674
Melas
Abnormal central motor function, Ataxia, Hypogonadotropic hypogonadism, Short stature, Depression... ORPHA:550
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Hypertonia, Agitation, Disinhibition, Myoclonus, Apraxia, Oculomotor apraxia ORPHA:1020
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Short stature, Hyperlordosis, Short neck, Kyphosis, Microcep... ORPHA:1798
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Abnormality on pulmonary function testing, Abnormal ... ORPHA:133
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Short stature, Impaired pain sensation, Cryptorchidism, Inability to walk, Brux... ORPHA:261552
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Kyphosis, Hypoplasia of the pons, Interstitial emphysema, Bronchiectasis... OMIM:619708
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Sandhoff Disease
Exaggerated startle response, Ataxia, Impaired temperature sensation, Impotence, Fasciculations, ... OMIM:268800
Autosomal Dominant Spastic Paraplegia Type 36
Abnormal brainstem MRI signal intensity ORPHA:320365
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus, Hemiparesis, Hypertonia, Pulmonary arterial hypertension, Failure t... ORPHA:974
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Ataxia, Pulmonary embolism, Microcephaly, Hydrocephalus, Poor fine motor co... ORPHA:79282
Combined Oxidative Phosphorylation Deficiency 27
Microcephaly, Chorea, Opisthotonus, Secondary microcephaly, Myoclonus, Tetraparesis, Failure to t... OMIM:616672
Gaucher Disease
Joint dislocation, Ataxia, Short stature, Tremor, Hemiplegia/hemiparesis, Hydrocephalus, Osteoart... ORPHA:355
9P13 Microdeletion Syndrome
Short stature, Bruxism, Hand tremor, Myoclonus, Attention deficit hyperactivity disorder, Scolios... ORPHA:324313
Potocki-Shaffer Syndrome
Wormian bones OMIM:601224
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Microcephaly, Tremor, Hydrocephalus, Abnormality of extrapyramidal motor function, Lethargy, Fail... OMIM:277400
Acute Myelomonocytic Leukemia
Dyspnea, Weight loss ORPHA:517
Cockayne Syndrome A
Hip contracture, Ataxia, Short stature, Microcephaly, Tremor, Cryptorchidism, Kyphosis, Irregular... OMIM:216400
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Kyphoscoliosis, Cryptorchidism, Dysplastic corpus callosum, Colpocephaly, Chordee, ... OMIM:618820
Osteogenesis Imperfecta, Type Xxii
Wormian bones, Intrauterine growth retardation, Multiple small vertebral fractures, Short stature OMIM:619795
Peripheral Primitive Neuroectodermal Tumor
Back pain, Abnormal thoracic spine morphology, Torticollis, Somatic sensory dysfunction, Metrorrh... ORPHA:370348
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Short stature, Pneumonia, Impulsivity, Aggressive behavior, Cryptorchidism, Asthma... ORPHA:353281
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Flexion contracture of finger, Somatic sensory dysfunction, Microce... ORPHA:466768
Takayasu Arteritis
Anorexia, Weight loss, Arthritis, Pulmonary arterial hypertension, Abnormal pattern of respiration ORPHA:3287
Carnitine Palmitoyltransferase Ii Deficiency
Neonatal respiratory distress, Cerebellar vermis hypoplasia, Hydrocephalus, Cardiomyopathy, Arrhy... ORPHA:157
Hallermann-Streiff Syndrome
Hyperactivity, Wormian bones, Small for gestational age, Spina bifida, Microcephaly, Hyperlordosi... OMIM:234100
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Dysesthesia, Vocal cord paralysis, Depression, Weight loss, Abnormalit... ORPHA:221098
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Multiple Sulfatase Deficiency
Macrocephaly, Hydrocephalus, Short stature, Microcephaly ORPHA:585
Zimmermann-Laband Syndrome 2
Kyphosis, Short stature, Short neck OMIM:616455
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Ataxia, Pneumonia, Craniosynostosis, Short neck, Spastic paraplegia,... ORPHA:309282
Beta-Ketothiolase Deficiency
Ataxia, Anorexia, Tachypnea, Weight loss, Agitation, Extrapyramidal dyskinesia, Cough, Oral avers... ORPHA:134
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Broad-based gait, Ataxia, Small for gestational age, Failure to thrive in infancy,... ORPHA:268261
Holoprosencephaly
Encephalocele, Failure to thrive in infancy, Microcephaly, Short neck, Cryptorchidism, Hydrocepha... ORPHA:2162
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Neonatal respiratory distress, Cerebellar vermis hypoplasia, Heart block, Hydrocephalus, Cardiomy... ORPHA:228308
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Flexion... OMIM:619040
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Severe short stature, Scoliosis OMIM:112350
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Female infertility, Cry... ORPHA:261529
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Vertebral wedging, Platyspondyly, Ventriculomegaly OMIM:617866
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Small for gestational age, Short stature, Microcephaly, Cryptorc... OMIM:194190
Autosomal Recessive Kenny-Caffey Syndrome
Microcephaly, Postnatal growth retardation, Growth delay, Intrauterine growth retardation, Delaye... ORPHA:93324
Otopalatodigital Syndrome Type 2
Encephalocele, Failure to thrive, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, ... ORPHA:90652
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Respiratory insufficiency, Hypertonia, Gait dist... ORPHA:682
Polymyositis
Anorexia, Respiratory insufficiency, Weight loss, Arthritis, Gait disturbance, Cough, Chondrocalc... ORPHA:732
8P23.1 Microdeletion Syndrome
Short stature, Short neck, Microcephaly, Cryptorchidism, Obesity, Weight loss, Growth delay, Bipa... ORPHA:251071
Serotonin Syndrome
Restlessness, Clonus, Tremor, Rigidity, Tachypnea, Irritability, Hypertonia, Agitation, Myoclonus ORPHA:43116
Laurin-Sandrow Syndrome
Underdeveloped nasal alae, Abnormality of the nose, Prominent nose, Hydrocephalus, Cryptorchidism... ORPHA:2378
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Knee flexion contracture, Intercrural pterygium, Pterygium, Dislocated radial head, N... OMIM:265000
Lateral Meningocele Syndrome
Prominent metopic ridge, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Meningocele, Abnorm... ORPHA:2789
Neurofibromatosis, Type I
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Genu valgum, Scoliosis, Macrocep... OMIM:162200
Thymic Carcinoma
Dyspnea, Weight loss, Diaphragmatic paralysis, Cough ORPHA:99868
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Wide cranial sutures, Short stature, Interphalangeal joint contracture of finger... OMIM:259600
Craniopharyngioma
Hypogonadotropic hypogonadism, Proportionate short stature, Postnatal growth retardation, Hydroce... ORPHA:54595
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis, Microcephaly ORPHA:77300
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Ataxia, Anorexia, Microcephaly, Spastic hemiparesis, Tachypnea, Weight loss, Myoclonus, Le... ORPHA:20
Arima Syndrome
Dilated fourth ventricle, Ataxia, Brainstem dysplasia, Dyspnea, Tachypnea, Growth delay, Hypoplas... OMIM:243910
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Sacral dimple, Microcephaly, Hydrocephalus, Hydrocele testis, Macrocephaly, Ventriculomegaly OMIM:613603
Fountain Syndrome
Short stature, Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Macrocep... ORPHA:3219
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Lynch Syndrome
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Depression, Irritability, Hypertoni... ORPHA:144
Pfeiffer Syndrome
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Short nose OMIM:101600
Curry-Jones Syndrome
Bicoronal synostosis, Unicoronal synostosis, Lipomyelomeningocele, Wormian bones, Occipital menin... OMIM:601707
Dystonia 34, Myoclonic
Torticollis, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor OMIM:619724
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Microcephaly, Spastic tetraplegia, Respiratory insufficiency, Growth delay, Myoclonus OMIM:614462
Biliary, Renal, Neurologic, And Skeletal Syndrome
Short stature, Aqueductal stenosis, Hydrocephalus, Asthma, Knee dislocation, Lateral ventricle di... OMIM:619534
Neuraminidase Deficiency
Short stature, Slurred speech, Myoclonus, Dysmetria OMIM:256550
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia ORPHA:3000
3M Syndrome
Congenital hip dislocation, Short stature, Hyperlordosis, Short neck, Increased vertebral height,... ORPHA:2616
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations OMIM:619141
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Apnea, Myoclonus, Microcephaly OMIM:619814
Cerebrooculonasal Syndrome
Encephalocele, Craniosynostosis, Postnatal growth retardation, Hydrocephalus, Macrocephaly, Dandy... OMIM:605627
Geroderma Osteodysplasticum
Severe short stature, Kyphoscoliosis, Microcephaly, Vertebral compression fracture, Irregular ver... OMIM:231070
Ogden Syndrome
Large posterior fontanelle, Congenital hip dislocation, Apnea, Short neck, Hypertonia, Aspiration... OMIM:300855
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Neonatal respiratory distress, Impaired pain sensation, Cryptorchidism, Kyphosis, Extra-axial cer... OMIM:619005
Giant Cell Arteritis
Ataxia, Epistaxis, Anorexia, Depression, Weight loss, Arthritis, Paresthesia, Cough ORPHA:397
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Craniosynostosis, Hydrocephalus, Agenesis of corpus callosum, Limited elbow... OMIM:123790
Developmental And Epileptic Encephalopathy 89
Hyperkinetic movements, Hypertonia, Tetraparesis, Scoliosis, Macrocephaly, Spasticity OMIM:619124
1P36 Deletion Syndrome
Short stature, Camptodactyly of finger, Delayed cranial suture closure, Microcephaly, Cryptorchid... ORPHA:1606
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Right bundle branch block, Cereb... OMIM:618590
Hyperphosphatasia-Intellectual Disability Syndrome
Ataxia, Short neck, Decreased head circumference, Growth delay, Increased head circumference, Gai... ORPHA:247262
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Ataxia ORPHA:324737
Osteogenesis Imperfecta, Type Xii
Wormian bones, Short stature, Scoliosis OMIM:613849
Basal Cell Nevus Syndrome 2
Hydrocephalus, Macrocephaly OMIM:620343
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Athetosis, Hydrocephalus, Delayed ossification of carpal bones OMIM:239300
Wrinkly Skin Syndrome
Failure to thrive, Congenital hip dislocation, Short stature, Kyphoscoliosis, Delayed closure of ... ORPHA:2834
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment OMIM:604218
Cono-Spondylar Dysplasia
Short neck, Kyphosis, Partial agenesis of the corpus callosum, Poor coordination, Scoliosis, Fail... ORPHA:420794
2Q31.1 Microdeletion Syndrome
Prominent metopic ridge, Short stature, Camptodactyly of finger, Short neck, Microcephaly, Crypto... ORPHA:251014
Listeriosis
Respiratory distress, Back pain, Somatic sensory dysfunction, Ataxia, Pneumonia, Tremor, Abnormal... ORPHA:533
Czeizel-Losonci Syndrome
Thoracolumbar scoliosis, Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta ORPHA:2437
Harrod Syndrome
Microcephaly, Cryptorchidism, Kyphosis, Scoliosis, Intrauterine growth retardation, Failure to th... ORPHA:2115
Charge Syndrome
Hypogonadotropic hypogonadism, Short stature, Microcephaly, Aqueductal stenosis, Cryptorchidism, ... ORPHA:138
Acrofacial Dysostosis 1, Nager Type
Short stature, Microcephaly, Aqueductal stenosis, Hydrocephalus, Limited elbow extension, Hip dis... OMIM:154400
Bruck Syndrome 2
Short stature, Elbow flexion contracture, Knee flexion contracture, Platyspondyly, Wormian bones,... OMIM:609220
Frank-Ter Haar Syndrome
Genu recurvatum, Camptodactyly of finger, Kyphosis, Scoliosis, Beaking of vertebral bodies ORPHA:137834
Attrv30M Amyloidosis
Impotence, Weight loss ORPHA:85447
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Gait ataxia, Depression, Positive R... ORPHA:70595
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Immunodeficiency 27A
Abnormal bronchus physiology, Pneumonia, Anorexia, Weight loss OMIM:209950
Icf Syndrome
Communicating hydrocephalus, Depressed nasal bridge, Abnormality of neutrophils, Lymphopenia, Anemia ORPHA:2268
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Cryptorchidism, Abnormal pattern of respiration, Myoclonus ORPHA:168593
Osteopathia Striata-Cranial Sclerosis Syndrome
Severe short stature, Hyperlordosis, Large fontanelles, Scoliosis, Macrocephaly, Spina bifida occ... ORPHA:2780
Neurofibromatosis Type 1
Ataxia, Short stature, Cryptorchidism, Hydrocephalus, Kyphosis, Genu valgum, Paresthesia, Scolios... ORPHA:636
Familial Colorectal Cancer Type X
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Depression, Irritability, Hypertoni... ORPHA:440437
Mohr Syndrome
Wormian bones, Hydrocephalus, Short stature, Scoliosis OMIM:252100
Developmental And Epileptic Encephalopathy 2
Inability to walk, Myoclonus, Scoliosis, Abnormal repetitive mannerisms, Progressive microcephaly... OMIM:300672
Wiedemann-Rautenstrauch Syndrome
Small for gestational age, Pneumonia, Delayed closure of the anterior fontanelle, Short neck, Sho... OMIM:264090
Thakker-Donnai Syndrome
Communicating hydrocephalus, Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion, Agenesis... ORPHA:1780
Mucolipidosis Type Ii
Respiratory failure requiring assisted ventilation, Prominent metopic ridge, Hip contracture, Sho... ORPHA:576
Intellectual Developmental Disorder, Autosomal Dominant 42
Failure to thrive, Cerebral palsy, Aggressive behavior, Inability to walk, Asthma, Phonic tics, D... OMIM:616973
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Abnormal central motor function, Paralysis, Gai... ORPHA:3385
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Hypogonadotropic hypogonadism, Weight loss, Arthritis, Joint swelling, Infertility, ... ORPHA:465508
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Spastic tetraplegia, Hypoplasia of the brainstem, Secondary microcephal... OMIM:619306
Proteus Syndrome
Testicular neoplasm, Pulmonary embolism, Cachexia, Kyphosis, Craniosynostosis, Hip dislocation, A... ORPHA:744
Hajdu-Cheney Syndrome
Short stature, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Hydrocephalus, Patellar di... ORPHA:955
Zttk Syndrome
Relative macrocephaly, Short stature, Craniosynostosis, Kyphosis, Dysplastic corpus callosum, Hem... OMIM:617140
Juvenile Polyposis Of Infancy
Short stature, Cachexia, Macrocephaly ORPHA:79076
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydrocephalus OMIM:314390
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Clonus, Cryptorchidism, Colpocephaly, Chordee, Lower limb hypertonia, Macrocephaly, Oculomotor ap... ORPHA:477993
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormality of the wrist, Abnormal vertebral morphology, Elbow ankylosis, Cryptorchidism, Wide an... ORPHA:95699
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea, Secondary microcephaly, Myoclonus, Primary microcephaly, Spasticity OMIM:612949
Silver-Russell Syndrome 1
Testicular seminoma, Small for gestational age, Delayed cranial suture closure, Intrauterine grow... OMIM:180860
Combined Oxidative Phosphorylation Deficiency 57
Small for gestational age, Central hypoventilation, Apnea, Secondary microcephaly, Myoclonus OMIM:620167
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Low frustration tolerance, Comp... ORPHA:646
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Unsteady gait, Limb tremor, Myoclonus, Difficulty walking, Head tremor, Hyperventila... ORPHA:420492
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-Walker m... OMIM:613001
Micro Syndrome
Short stature, Microcephaly, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty, Intrauterine g... ORPHA:2510
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Stromme Syndrome
Accessory spleen, Prominent nasal bridge, Hydrocephalus, Wide nasal bridge, Short columella, Stil... OMIM:243605
Gracile Bone Dysplasia
Hydrocephalus, Failure to thrive, Short stature OMIM:602361
Coenzyme Q10 Deficiency, Primary, 1
Hypergonadotropic hypogonadism, Ataxia, Tremor, Myoclonus, Dysphagia, Loss of ambulation, Right h... OMIM:607426
Smith-Lemli-Opitz Syndrome
Sacral dimple, Hyperactivity, Short stature, Microcephaly, Aggressive behavior, Cryptorchidism, H... OMIM:270400
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Short stature, Craniosynostosis ORPHA:1064
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Lumbar hyperlordosis, Short neck, Inability to walk, Hydrocephalus, Lumbar ... ORPHA:505248
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Ataxia, Microcephaly, Hypopnea, Extra... OMIM:618426
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Cryptorchidism, Hydrocephalus, Craniosynostosis ORPHA:1555
Trisomy 20P
Incoordination, Camptodactyly of finger, Spina bifida, Short neck, Cryptorchidism, Kyphosis, Abno... ORPHA:261318
Holoprosencephaly 13, X-Linked
Microcephaly, Alobar holoprosencephaly, Vertebral clefting, Colpocephaly, Thoracic hemivertebrae,... OMIM:301043
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar toot... OMIM:616546
Basal Cell Nevus Syndrome 1
Vertebral fusion, Kyphoscoliosis, Spina bifida, Hydrocephalus, Hemivertebrae, Vertebral wedging, ... OMIM:109400
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Baller-Gerold Syndrome
Bicoronal synostosis, Severe short stature, Short stature, Limited elbow movement, Sagittal crani... OMIM:218600
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Abnormal brainstem MRI signal intensity, Respiratory insufficiency, Pulmonary ar... ORPHA:258
Hypercalcemia, Infantile, 1
Lethargy, Failure to thrive, Weight loss OMIM:143880
Lysosomal Acid Lipase Deficiency
Pulmonary arterial hypertension, Failure to thrive, Cachexia, Weight loss ORPHA:275761
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Short stature, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis ORPHA:1883
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Microcephaly, Hydrocephalus, Colpocephaly, Chordee, Agenesis of corpus callosum OMIM:309801
Ulna Hypoplasia-Intellectual Disability Syndrome
Elbow dislocation, Severe short stature, Large fontanelles, Delayed cranial suture closure ORPHA:2249
Full Schwannomatosis
Hypoesthesia, Paresthesia, Fasciculations, Scoliosis ORPHA:93921
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Cryptorchidism, Respiratory failure, Fasciculations, Intrau... OMIM:620327
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Small for gestational age, Short stature, Microcephaly, Cryptorch... OMIM:227646
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Cockayne Syndrome B
Severe short stature, Ataxia, Small for gestational age, Microcephaly, Tremor, Cryptorchidism, Ky... OMIM:133540
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Weight loss, Hypoxemia, Restrictive ven... ORPHA:2902
Cryptococcosis
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Dyspnea, Peritonitis, Hydrocep... ORPHA:1546
15Q14 Microdeletion Syndrome
Short stature, Microcephaly, Kyphosis, Biparietal narrowing, Scoliosis ORPHA:261190
Lathosterolosis
Abnormal thoracic spine morphology, Prominent metopic ridge, Microcephaly, Meningocele, Biparieta... ORPHA:46059
Trisomy 13
Cryptorchidism, Kyphosis, Abnormality of the fontanelles or cranial sutures, Scoliosis, Intrauter... ORPHA:3378
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Short stature, Craniosynostosis, Obesity, Myoclonus, Delayed puberty, Polyphagia ORPHA:251004
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Vocal tremor ORPHA:420485
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Short stature ORPHA:166277
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Microcephaly, Postnatal growth retardation, Cryptorchidism, Kyphosis, Hemivertebr... OMIM:301040
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:94080
Wiedemann-Rautenstrauch Syndrome
Tremor, Hypoplastic vertebral bodies, Hypertonia, Agenesis of corpus callosum, Hypogonadotropic h... ORPHA:3455
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Depression, Truncal obesity, Agitation, Emotional lability OMIM:219080
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Short stature, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the... ORPHA:2916
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Genu valgum, Hypogonadism, Spina bifida occulta ORPHA:2983
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Joubert Syndrome 39
Occipital encephalocele, Pain insensitivity, Overweight, Hypopnea, Joint contracture of the 5th f... OMIM:619562
Holoprosencephaly 7
Flat nasal alae, Alobar holoprosencephaly, Hydrocephalus, Absent nasal septal cartilage, Wide nas... OMIM:610828
Saethre-Chotzen Syndrome
Proximal radio-ulnar synostosis, Short stature, Craniosynostosis, Hyperlordosis, Cryptorchidism, ... ORPHA:794
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Relative macrocephaly, Encephalocele, Rhizomelia, Unicoronal synostosis, Cryptorchidism, Respirat... OMIM:616300
Trisomy 10P
Wide cranial sutures, Small for gestational age, Poor motor coordination, Hemivertebrae, Growth d... ORPHA:171929
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Myoclonus, Weight loss OMIM:256700
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Depression, Truncal obesity, Agitation, Emotional lability OMIM:610475
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Congenital hip dislocation, Hydrocephalus, Hemivertebrae, Scoliosis, Cubitus valgus OMIM:104350
Follicular Lymphoma
Pleural effusion, Weight loss ORPHA:545
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones OMIM:166220
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Wide nasal bridge OMIM:601499
X-Linked Agammaglobulinemia
Sinusitis, Short stature, Recurrent pneumonia, Weight loss, Arthritis, Failure to thrive ORPHA:47
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Respiratory distress, Tracheomalacia ORPHA:93260
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Communicating hydrocephalus, Hyperparathyroidism, Depressed nasal bridge, A... OMIM:618188
Joubert Syndrome 5
Central apnea, Occipital encephalocele, Ataxia, Episodic tachypnea, Aggressive behavior, Thickene... OMIM:610188
Gm1-Gangliosidosis, Type I
Severe short stature, Short neck, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, ... OMIM:230500
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Impaired vibration sensation in the lower limbs, Clumsiness, Steppage gait, Fasciculations, Frequ... ORPHA:521411
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Weight loss, Hypoxem... ORPHA:90060
Juvenile Absence Epilepsy
Myoclonus ORPHA:1941
Combined Oxidative Phosphorylation Deficiency 11
Increased CSF lactate, Respiratory failure, Myoclonus, Tongue fasciculations, Lethargy OMIM:614922
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Ataxia, Myoclonus OMIM:560000
Hyperekplexia 1
Exaggerated startle response, Apnea, Hip dislocation, Hypertonia, Myoclonus, Aspiration, Frequent... OMIM:149400
Orofaciodigital Syndrome Type 3
Thoracic kyphosis, Myoclonus, Oculomotor apraxia, Spasticity, Dandy-Walker malformation ORPHA:2752
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short stature, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Heart murmur, Intracrani... ORPHA:163979
Rubinstein-Taybi Syndrome 1
Respiratory distress, Bilateral cryptorchidism, Spina bifida occulta, Agenesis of corpus callosum... OMIM:180849
Osteootohepatoenteric Syndrome
Asthma, Hydrocephalus, Failure to thrive, Weight loss OMIM:619377
Gapo Syndrome
Ventriculomegaly, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Growth dela... OMIM:230740
Galloway-Mowat Syndrome 10
Primary microcephaly, Secondary microcephaly, Myoclonus, Microcephaly OMIM:619609
Cleidocranial Dysplasia
Sinusitis, Short stature, Abnormal sacrum morphology, Large fontanelles, Genu valgum, Scoliosis, ... ORPHA:1452
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Short neck, Postnatal growth retardation, Metopic suture patent to nasal... OMIM:269150
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Obesity, Abdominal obesity, Oligomenorrhea, Biconcave vertebral bodies, Emotional labil... OMIM:219090
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cough, Hemiplegia/hemiparesis, Asthma, Respiratory insufficiency, Weight loss, Arthrit... ORPHA:183
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Secondary amenorrhea, Depression, Truncal obesity, Agitation, Emotional lability OMIM:610489
Schinzel-Giedion Syndrome
Respiratory distress, Sacrococcygeal teratoma, Streak ovary, Failure to thrive in infancy, Kyphos... ORPHA:798
Acute Disseminated Encephalomyelitis
Respiratory failure requiring assisted ventilation, Abnormal brainstem MRI signal intensity, Abno... ORPHA:83597
Hirschsprung Disease
Failure to thrive in infancy, Short stature, Weight loss ORPHA:388
22Q11.2 Deletion Syndrome
Short stature, Spina bifida, Microcephaly, Short neck, Cryptorchidism, Asthma, Hydrocephalus, Chr... ORPHA:567
Marbach-Rustad Progeroid Syndrome
Short stature, Microcephaly, Growth delay, Wormian bones, Intrauterine growth retardation, Intent... OMIM:619322
Farber Disease
Respiratory distress, Abnormality of the knee, Short stature, Abnormality of the wrist, Parapares... ORPHA:333
Baraitser-Winter Cerebrofrontofacial Syndrome
Prominent metopic ridge, Short neck, Microcephaly, Large fontanelles, Growth delay, Scoliosis, Os... ORPHA:2995
Sturge-Weber Syndrome
Pulmonary embolism, Hydrocephalus, Macrocephaly, Attention deficit hyperactivity disorder, Dysphagia ORPHA:3205
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Flexion contracture of finger, Congenital hip dislocation, Hypercapnia, Hyperlor... ORPHA:2020
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Kyphosis, Short stature, Short neck ORPHA:3082
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv... ORPHA:573278
Fanconi Anemia
Short stature, Spina bifida, Microcephaly, Cryptorchidism, Hydrocephalus, Hip dislocation, Weight... ORPHA:84
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Irregularity of vertebral bodies, Hyperactivity, Otosclerosis, Short... ORPHA:580
Stickler Syndrome, Type I
Arthropathy, Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Morbus Scheuermann, Scoliosis, B... OMIM:108300
Microphthalmia, Lenz Type
Short stature, Camptodactyly of finger, Hyperlordosis, Microcephaly, Cryptorchidism, Kyphosis, Se... ORPHA:568
Osteogenesis Imperfecta, Type Xx
Kyphoscoliosis, Microcephaly, Disproportionate short-limb short stature, Wormian bones, Intrauter... OMIM:618644
Myasthenic Syndrome, Congenital, 20, Presynaptic
Hypoventilation, Apnea, Kyphosis, Stridor, Scoliosis, Dysphagia OMIM:617143
Schindler Disease, Type I
Spasticity, Myoclonus OMIM:609241
Melnick-Needles Syndrome
Short stature, Anisospondyly, Hip dislocation, Respiratory insufficiency, Scoliosis, Delayed cran... ORPHA:2484
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Short stature, Epistaxis, Microcephaly, Aggressive behavior, Cryptor... OMIM:619841
Cohen Syndrome
Failure to thrive in infancy, Short stature, Microcephaly, Cryptorchidism, Kyphosis, Obesity, Gen... ORPHA:193
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Brody Disease
Somatic sensory dysfunction, Fasciculations OMIM:601003
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Kyphosis, Tremor, Unstead... OMIM:615512
Osteogenesis Imperfecta, Type Xvi
Short stature, Small for gestational age, Rhizomelia, Platyspondyly, Wormian bones, Vertebral com... OMIM:616229
Short-Rib Thoracic Dysplasia 12
Short neck, Hydrocephalus, Anencephaly, Respiratory insufficiency, Holoprosencephaly, Macrocephal... OMIM:269860
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Speech apraxia, Prominent metopic ridge, Apnea, Recurrent ... ORPHA:314655
Mucopolysaccharidosis Type 6
Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Disproportionate short-trunk short statu... ORPHA:583
Arthrogryposis, Distal, Type 4
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Scoliosis OMIM:609128
Fontaine Progeroid Syndrome
Small for gestational age, Short stature, Craniosynostosis, Microcephaly, Cryptorchidism, Hydroce... OMIM:612289
Pfapa Syndrome
Arthritis, Weight loss ORPHA:42642
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory insufficiency, Tetraplegia, Irritability, Respiratory failure, Myoclonus, ... OMIM:618278
Fraser Syndrome 3
Hydrocephalus, Wide nose, Stillbirth, Convex nasal ridge OMIM:617667
Trisomy 8P
Sacral dimple, Short neck, Microcephaly, Cryptorchidism, Hydrocephalus, Metopic suture patent to ... ORPHA:264450
Fibrochondrogenesis 1
Rhizomelia, Short neck, Wide anterior fontanel, Widely patent coronal suture, Platyspondyly, Join... OMIM:228520
Peho Syndrome
Myoclonus, Progressive microcephaly OMIM:260565
Immunodeficiency 49
Wormian bones, Agenesis of corpus callosum, Spastic tetraplegia OMIM:617237
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Camptodactyly of finger, Microcephaly, Short n... OMIM:249000
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Increased cir... ORPHA:91350
Costello Syndrome
Short stature, Limited elbow movement, Short neck, Wide anterior fontanel, Hydrocephalus, Pneumot... OMIM:218040
Pseudoaminopterin Syndrome
Short stature, Limited elbow movement, Sagittal craniosynostosis, Cryptorchidism, Hydrocephalus, ... ORPHA:221120
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Wide anterior fontanel, Vertebral arch anomaly, Macrocephaly ORPHA:85184
Capillary Malformation-Arteriovenous Malformation
Epistaxis, High-output congestive heart failure, Congestive heart failure, Hydrocephalus, Telangi... ORPHA:137667
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Short stature, Scoliosis, Dysphagia ORPHA:79107
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the cervical spine, Mild postnatal growth retardation, Ankle swelling, Knee osteoa... ORPHA:85408
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxation, Scoliosis, Wormian bones OMIM:617821
Lowe Oculocerebrorenal Syndrome
Short stature, Camptodactyly of finger, Aggressive behavior, Wrist swelling, Cryptorchidism, Kyph... OMIM:309000
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Hyperlordosis, Hydrocephalus, Absent vertebra, Myelomeni... ORPHA:63259
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:612651
Lymphoid Interstitial Pneumonia
Crackles, Dyspnea, Wheezing, Bronchiectasis, Weight loss, Hypoxemia, Restrictive ventilatory defe... ORPHA:79128
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Periodontitis, Abnormality of the ovary, Dandy-Walker malformation ORPHA:722
Familial Thyroid Dyshormonogenesis
Lethargy, Large posterior fontanelle, Delayed cranial suture closure ORPHA:95716
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Relative macrocephaly, Joint dislocation, Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bo... OMIM:618019
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Kyphosis, Attention deficit hyperactivity disorder, Compulsive behaviors, Scoliosis ORPHA:404440
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Irregular vertebral endplates, Shoul... OMIM:143095
Fucosidosis
Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking of lumbar vertebrae, Spa... ORPHA:349
Aicardi-Goutieres Syndrome 7
Lower limb spasticity, Pneumonia, Spastic tetraparesis, Microcephaly, Tetraplegia, Weight loss, I... OMIM:615846
Full Nf2-Related Schwannomatosis
Somatic sensory dysfunction, Myelopathy, Hydrocephalus, Unsteady gait, Hemiparesis, Brain stem co... ORPHA:637
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Lower limb dysmetria, Short stature, Kyphoscoliosis, Hyperlordosis, Hydrocephalus, Gen... ORPHA:363700
Oculocerebrorenal Syndrome Of Lowe
Clonus, Compulsive behaviors, Abnormal repetitive mannerisms, Short stature, Cryptorchidism, Resp... ORPHA:534
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Gait disturbance ORPHA:85193
Distal 22Q11.2 Microduplication Syndrome
Sacral dimple, Camptodactyly of finger, Microcephaly, Cryptorchidism, Hydrocephalus, Biparietal n... ORPHA:261337
Pseudomyxoma Peritonei
Respiratory insufficiency, Weight loss ORPHA:26790
Weismann-Netter Syndrome
Kyphosis, Severe short stature, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ventilatory defect, Hy... ORPHA:2905
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis, Weight loss OMIM:613239
Peters-Plus Syndrome
Rhizomelia, Limited elbow movement, Microcephaly, Short neck, Cryptorchidism, Hydrocephalus, Wide... OMIM:261540
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal sacroiliac joint morphology, Weight loss, Arthritis, Scoliosis, Abnormal vertebral morph... ORPHA:324964
Osteogenesis Imperfecta, Type Xxi
Wormian bones, Platyspondyly, Disproportionate short-limb short stature, Scoliosis OMIM:619131
Multiple Pterygium-Malignant Hyperthermia Syndrome
Prominent metopic ridge, Severe short stature, Camptodactyly of finger, Dyspnea, Kyphosis, Crypto... ORPHA:2215
Oculopharyngodistal Myopathy 1
Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien... OMIM:164310
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Bifid thoracic vertebrae, Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Raine Syndrome
Short stature, Short neck, Microcephaly, Hydrocephalus, Large fontanelles OMIM:259775
Eosinophilic Fasciitis
Arthritis, Paresthesia, Weight loss ORPHA:3165
Alg9-Cdg
Lower limb spasticity, Torticollis, Prominent metopic ridge, Rhizomelia, Delayed cranial suture c... ORPHA:79328
Hyperekplexia 3
Exaggerated startle response, Apnea, Hypertonia, Myoclonus, Respiratory arrest OMIM:614618
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueduc... OMIM:306955
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Craniosynostosis 2
Craniosynostosis, Unicoronal synostosis, Metopic synostosis, Wormian bones, Bicoronal synostosis OMIM:604757
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Growth delay, Ataxia OMIM:616084
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Obesity, Attention deficit hyperactivity disorder ORPHA:261222
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short stature, Kyphoscoliosis, Short neck, Spina bifida, Cryptorchidi... OMIM:304120
Scorpion Envenomation
Restlessness, Hemifacial spasm, Ataxia, Tremor, Tachypnea, Hyperkinetic movements, Paresthesia, M... ORPHA:466677
Acute Promyelocytic Leukemia
Metrorrhagia, Epistaxis, Anorexia, Productive cough, Weight loss, Addictive alcohol use, Exertion... ORPHA:520
Smith-Lemli-Opitz Syndrome
Short stature, Rhizomelia, Microcephaly, Short neck, Cryptorchidism, Kyphosis, Hip dislocation, A... ORPHA:818
Van Maldergem Syndrome 1
Sacral dimple, Wide cranial sutures, Wide anterior fontanel, Radial head subluxation, Growth dela... OMIM:601390
Trisomy 9P
Sacral dimple, Short neck, Microcephaly, Kyphosis, Scoliosis ORPHA:236
Isotretinoin-Like Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus, Microcephaly ORPHA:2306
Cowden Syndrome 5
Kyphosis, Progressive macrocephaly, Hydrocele testis, Scoliosis, Intention tremor OMIM:615108
Cdags Syndrome
Sagittal craniosynostosis, Kyphosis, Large fontanelles, Lambdoidal craniosynostosis, Coronal cran... OMIM:603116
Meckel Syndrome, Type 6
Occipital encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly, Bile duct proliferation OMIM:612284
Progeroid Short Stature With Pigmented Nevi
Allergic conjunctivitis, Allergic rhinitis OMIM:176690
Hurler-Scheie Syndrome
Short stature, Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fi... OMIM:607015
D-Bifunctional Protein Deficiency
Ventriculomegaly, Large fontanelles, Macrocephaly, Failure to thrive, Delayed cranial suture closure OMIM:261515
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Severe postnatal growth retardation, Failure to thrive, Short stature, Delayed cranial suture clo... OMIM:613038
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss ORPHA:168816
Microphthalmia With Limb Anomalies
Short stature, Tarsal synostosis, Elbow dislocation, Cryptorchidism, Hydrocephalus, Hip dislocati... ORPHA:1106
Spondyloperipheral Dysplasia
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Flat acet... OMIM:271700
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Diffuse cerebellar atrophy, Abnormal brainstem morphology, Hypotension ORPHA:93256
Van Maldergem Syndrome 2
Sacral dimple, Wide cranial sutures, Cryptorchidism, Wide anterior fontanel, Growth delay, Scolio... OMIM:615546
Mitochondrial Dna Depletion Syndrome 19
Hydrocele testis, Spasticity, Myoclonus, Tetraparesis OMIM:618972
Brachyolmia Type 3
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis OMIM:113500
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ataxia, Secondary microcephaly, Myoclonus, Aspiration pneumonia OMIM:619167
Alstrom Syndrome
Hypergonadotropic hypogonadism, Short stature, Kyphosis, Asthma, Recurrent pneumonia, Irregular m... OMIM:203800
Tetrasomy 9P
Joint dislocation, Sacral dimple, Hyperactivity, Short neck, Cryptorchidism, Hydrocephalus, Large... ORPHA:3310
Wolf-Hirschhorn Syndrome
Sacral dimple, Ataxia, Microcephaly, Cryptorchidism, Kyphosis, Abnormal form of the vertebral bod... ORPHA:280
Congenital Heart Defects And Skeletal Malformations Syndrome
Short stature, Repeated pneumothoraces, Cryptorchidism, Kyphosis, Scoliosis, Intrauterine growth ... OMIM:617602
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Dysphagia, Pleural effusio... OMIM:254900
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Wheezing, Weight loss, Cough ORPHA:171876
Gangliocytoma
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:251937
Congenital Tufting Enteropathy
Irritability, Failure to thrive, Arthritis, Weight loss ORPHA:92050
Erdheim-Chester Disease
Polydipsia, Hypogonadotropic hypogonadism, Ataxia, Dyspnea, Weight loss, Joint swelling, Cough, P... ORPHA:35687
Primrose Syndrome
Bilateral cryptorchidism, Knee flexion contracture, Irregular vertebral endplates, Posterior scal... OMIM:259050
Cowden Syndrome 6
Kyphosis, Progressive macrocephaly, Hydrocele testis, Scoliosis, Intention tremor OMIM:615109
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Lumbar hyperlordosis, Microcephaly, Non-obstructive... ORPHA:2232
Lymphangioleiomyomatosis
Dyspnea, Hydrocephalus, Pneumothorax, Restrictive ventilatory defect, Chylothorax, Cough, Emphysema ORPHA:538
Nmda Receptor Encephalitis
Involuntary movements, Rigidity, Hypersexuality, CSF pleocytosis, Chorea, Depression, Choreoathet... ORPHA:217253
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly, Polysplenia ORPHA:1335
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Sacral Defect With Anterior Meningocele
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Hydrocephalus, Myelomeningocele, Meni... OMIM:600145
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Osteogenesis Imperfecta, Type Viii
Kyphosis, Wide anterior fontanel, Platyspondyly, Disproportionate short-limb short stature, Scoli... OMIM:610915
Acute Monoblastic/Monocytic Leukemia
Weight loss, Ankle swelling, Anorexia, Exertional dyspnea ORPHA:514
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Large posterior fontanelle, Pituitary dwarfism, Hypogonadotropic hypogonadism, Short neck, Overwe... ORPHA:226307
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Short stature, Limited elbow movement, Delayed closure of the anterior font... OMIM:614008
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Sacral dimple, Failure to thrive, Severe short stature, Microcephaly, Dyspn... ORPHA:2556
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Short neck, Hydrocephalus, Growth delay, Attention deficit hyperactivity diso... OMIM:614083
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Microcephaly, Cryptorchidism, Obesity, Difficulty walking, Scoliosis, Abnormal repetitive manneri... OMIM:618653
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Microcephaly, Bilateral cryptorchidism, Short neck, Partial agenesis of... ORPHA:434179
Bronchial Neuroendocrine Tumor
Pneumonia, Anorexia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Weight loss, Bronchospasm ORPHA:97287
Familial Glucocorticoid Deficiency
Anorexia, Cryptorchidism, Testicular adrenal rest tumor, Tetraplegia, Weight loss, Azoospermia, L... ORPHA:361
Pycnodysostosis
Persistent open anterior fontanelle, Short stature, Spondylolysis, Scoliosis, Wormian bones, Spon... OMIM:265800
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Weight loss ORPHA:65682
Lafora Disease
Ataxia, Inability to walk, Depression, Gait disturbance, Myoclonus, Erratic myoclonus, Emotional ... ORPHA:501
Orofaciodigital Syndrome Vi
Short stature, Molar tooth sign on MRI, Occipital meningocele, Failure to thrive, Agenesis of cor... OMIM:277170
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Myoclonus, Microcephaly OMIM:246450
Atelis Syndrome 2
Sacral dimple, Microcephaly, Dyspnea, Kyphosis, Dysmetria, Attention deficit hyperactivity disorder OMIM:620185
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Kyphosis, Scoliosis, Cryptorchidism OMIM:615381
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Robinow Syndrome, Autosomal Recessive 1
Vertebral fusion, Hypoplastic sacrum, Short stature, Thoracolumbar scoliosis, Short neck, Cryptor... OMIM:268310
Acrodermatitis Enteropathica
Short stature, Anorexia, Weight loss, Emotional lability, Failure to thrive ORPHA:37
Sandhoff Disease, Infantile Form
Exaggerated startle response, Progressive macrocephaly, Myoclonus, Spasticity ORPHA:309155
Ethylene Glycol Poisoning
Ataxia, Tachypnea, Episodic respiratory distress, Slurred speech, Euphoria, Addictive alcohol use... ORPHA:31826
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Ble... ORPHA:306674
Grant Syndrome
Wormian bones OMIM:138930
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Cryptorchidism, Kyphosis, Elbow flexion contracture, Knee flexion co... OMIM:619194
Mast Cell Sarcoma
Weight loss ORPHA:66661
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis, Weight loss OMIM:188580
Premature Aging Syndrome, Penttinen Type
Flexion contracture of finger, Hyperextensibility of the knee, Scoliosis, Macrocephaly, Wormian b... OMIM:601812
Secondary Short Bowel Syndrome
Growth delay, Failure to thrive, Polyphagia, Weight loss ORPHA:95427
Dystonia-Aphonia Syndrome
Unsteady gait, Gait disturbance, Myoclonus, Dysphagia ORPHA:412217
Coffin-Siris Syndrome 12
Short stature, Microcephaly, Cryptorchidism, Noncommunicating hydrocephalus, Ridged cranial sutur... OMIM:619325
Behçet Disease
Ataxia, Anorexia, Pulmonary embolism, Orchitis, Abnormal pyramidal sign, Weight loss, Hemiparesis... ORPHA:117
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypoventilation, Ataxia, Paralysis, Hypertonia, Myoclonus, Scoliosis, Tetraparesis, Tracheomalaci... OMIM:203700
Paget Disease Of Bone 5, Juvenile-Onset
Relative macrocephaly, Short stature, Kyphosis, Macrocephaly, Failure to thrive OMIM:239000
Tsh-Secreting Pituitary Adenoma
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Decreased fertility ... ORPHA:91347
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Microcephaly, Hydrocephalus, Genu valgum, Abdominal obesity, Hypoplasia of the ova... OMIM:619321
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint dislocation, Thoracic scoliosis, Sacral dimple, Phalangeal dislocation, Kyphoscoliosis, Imp... ORPHA:536532
Alveolar Echinococcosis
Low back pain, Ataxia, Dyspnea, Weight loss, Hemiparesis, Cough, Abnormal vertebral morphology ORPHA:284
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Hip dislocation, Scoliosis, Intrauterine growth retardation,... ORPHA:958
Gaucher Disease Type 1
Anorexia, Kyphosis, Osteoarthritis, Growth delay, Delayed puberty, Pulmonary arterial hypertensio... ORPHA:77259
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Wrinkly Skin Syndrome
Congenital hip dislocation, Short stature, Delayed cranial suture closure, Delayed closure of the... OMIM:278250
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Wilson Disease
Poor motor coordination, Tremor, Rigidity, Osteoarthritis, Hypoesthesia, Hand tremor, Face of the... OMIM:277900
Osteosarcoma
Joint swelling, Weight loss ORPHA:668
Cowden Syndrome 1
Kyphosis, Progressive macrocephaly, Hydrocele testis, Scoliosis, Intention tremor OMIM:158350
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation ORPHA:424
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity OMIM:616640
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity ORPHA:51188
Gaucher Disease, Type Iiic
Splenomegaly, Hydrocephalus, Pancytopenia OMIM:231005
Yao Syndrome
Arthritis, Asthma, Weight loss OMIM:617321
Yunis-Varon Syndrome
Wide cranial sutures, Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalus,... ORPHA:3472
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress, Persistent open anterior fontanelle, Short s... OMIM:119600
Adrenocortical Carcinoma
Irritability, Abnormality of reproductive system physiology, Increased body weight, Weight loss ORPHA:1501
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Absent nares, Holoprosencephaly, Thyroid hypoplasia ORPHA:2166
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Acute respiratory distress syndrome, Delayed cranial suture closure, Craniosynostosis, Microcepha... OMIM:620005
Isolated Permanent Neonatal Diabetes Mellitus
Prominent metopic ridge, Ataxia, Weight loss, Apraxia, Intrauterine growth retardation, Failure t... ORPHA:99885
X-Linked Intellectual Disability, Snyder Type
Short stature, Involuntary movements, Kyphoscoliosis, Cryptorchidism, Kyphosis, Unsteady gait, In... ORPHA:3063
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Hydranencephaly, Short stature, Spina bifida, Microcephaly, Kyphos... ORPHA:1393
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Weight loss ORPHA:3226
Meckel Syndrome
Encephalocele, Accessory spleen, Pancreatic fibrosis, Asplenia, Cryptorchidism, Hydrocephalus, Pa... ORPHA:564
Igg4-Related Aortitis
Low back pain, Asthma, Weight loss ORPHA:449400
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Sclerotic cranial sutures, Abnormal form of the vertebral bodies, Arthritis, Carpal ... ORPHA:371428
Holoprosencephaly 9
Short stature, Microcephaly, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callos... OMIM:610829
Dextrocardia
Abnormality of the spleen, Hydrocephalus, Pancreatic hypoplasia ORPHA:1666
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Wide anterior fontanel, Growt... OMIM:249420
Genitopatellar Syndrome
Hip contracture, Congenital hip dislocation, Microcephaly, Cryptorchidism, Patellar aplasia, Knee... OMIM:606170
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Amyotrophy, Monomelic
Fasciculations OMIM:602440
Marfanoid Habitus With Situs Inversus
Kyphosis, Genu recurvatum, Scoliosis OMIM:609008
Early Infantile Epileptic Encephalopathy
Hyperactivity, Microcephaly, Tremor, Choreoathetosis, Self-injurious behavior, Myoclonus, Episodi... ORPHA:1934
Coffin-Siris Syndrome 1
Sacral dimple, Short stature, Microcephaly, Aggressive behavior, Cryptorchidism, Kyphosis, Aplasi... OMIM:135900
Orofaciodigital Syndrome I
Short stature, Microcephaly, Hydrocephalus, Myelomeningocele, Agenesis of corpus callosum OMIM:311200
Brucellosis
Small for gestational age, Pneumonia, Anorexia, Orchitis, Chorea, Knee osteoarthritis, Depression... ORPHA:1304
Mgat2-Cdg
Respiratory distress, Kyphosis, Stereotypical hand wringing, Scoliosis, Failure to thrive, Progre... ORPHA:79329
Oculodentodigital Dysplasia, Autosomal Recessive
Wide cranial sutures, Failure to thrive, Large fontanelles, Short stature OMIM:257850
Fetal Akinesia Deformation Sequence 1
Hip contracture, Small for gestational age, Camptodactyly of finger, Short neck, Cryptorchidism, ... OMIM:208150
Liposarcoma
Paresthesia, Weight loss ORPHA:69078
Rheumatoid Arthritis
Joint swelling, Polyarticular arthritis, Rheumatoid arthritis, Weight loss OMIM:180300
Tuberous Sclerosis Complex
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... ORPHA:805
Systemic Capillary Leak Syndrome
Cardiorespiratory arrest, Weight loss, Cough, Pleural effusion, Rhinorrhea ORPHA:188
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Myoclonus, Spasticity, Ventriculomegaly OMIM:253280
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Melnick-Needles Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Hip dislocation, Genu valgum, Gait dist... OMIM:309350
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ulnar deviation of the wrist, Interphalangeal joint contracture of finger, Kyphoscoliosis, Microc... ORPHA:96334
Malignant Peritoneal Mesothelioma
Dyspnea, Weight loss ORPHA:168811
Focal Myositis
Weight loss ORPHA:48918
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Loeffler Endocarditis
Dyspnea, Weight loss, Cough ORPHA:75566
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Tarsal synostosis, Kyphosis, Wide anterior fontanel, Coronal craniosy... ORPHA:85199
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Late-Onset Isolated Acth Deficiency
Premature ovarian insufficiency, Anorexia, Weight loss, Lethargy, Failure to thrive ORPHA:199299
Coffin-Lowry Syndrome
Short stature, Delayed closure of the anterior fontanelle, Microcephaly, Kyphosis, Lumbar kyphosi... OMIM:303600
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ataxia, Cryptorchidism, Spastic tetraplegia, Distal sensory impairment, Growth delay... OMIM:609136
Opsoclonus-Myoclonus Syndrome
Ataxia, Rigidity, Irritability, Myoclonus, Limb myoclonus ORPHA:1183
Orofaciodigital Syndrome Iii
Kyphosis, Myoclonus OMIM:258850
Kaposi Sarcoma
Weight loss ORPHA:33276
Aggressive Systemic Mastocytosis
Anorexia, Weight loss ORPHA:98850
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos... ORPHA:2062
Fabry Disease
Delayed puberty, Paresthesia, Fasciculations, Airway obstruction OMIM:301500
Autosomal Recessive Cutis Laxa Type 1
Severe short stature, Microcephaly, Wide anterior fontanel, Pneumothorax, Recurrent pneumonia, Hi... ORPHA:90349
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea, Delayed cranial suture closure ORPHA:1129
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor, Weight loss ORPHA:99819
Osteogenesis Imperfecta, Type Xviii
Wormian bones, Vertebral compression fracture, Biconcave vertebral bodies OMIM:617952
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Severe short stature, Kyphoscoliosis, Microcephaly, Knee flexion contracture, Di... OMIM:210730
Mandibuloacral Dysplasia
Postnatal growth retardation, Delayed cranial suture closure ORPHA:2457
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:276621
Antley-Bixler Syndrome
Delayed cranial suture closure, Elbow ankylosis, Camptodactyly of finger, Craniosynostosis ORPHA:83
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty, Bicoronal sy... OMIM:619718
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint dislocation, Delayed cranial suture closure, Dysesthesia, Cryptorchidism, Pneumothorax, Lar... OMIM:601776
Williams Syndrome
Tremor, Abnormal form of the vertebral bodies, Dysmetria, Vertebral segmentation defect, Compulsi... ORPHA:904
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Mandibuloacral Dysplasia With Type B Lipodystrophy
Wormian bones, Growth delay, Delayed cranial suture closure OMIM:608612
Igg4-Related Retroperitoneal Fibrosis
Low back pain, Anorexia, Weight loss, Hydrocele testis, Retrograde ejaculation, Impotence, Rheuma... ORPHA:49041
Autoimmune Pulmonary Alveolar Proteinosis
Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Holt-Oram Syndrome
Kyphosis, Radioulnar synostosis, Scoliosis ORPHA:392
Osteogenesis Imperfecta, Type Vii
Wide cranial sutures, Short stature, Protrusio acetabuli, Rhizomelia, Wide anterior fontanel, Sco... OMIM:610682
Cystic Echinococcosis
Asthma, Abnormality of the vertebral column, Abnormality of the testis size, Weight loss ORPHA:400
Autosomal Dominant Cutis Laxa
Genu recurvatum, Microcephaly, Postnatal growth retardation, Hip dislocation, Bronchiectasis, Abn... ORPHA:90348
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Wild Type Attr Amyloidosis
Pleural effusion, Weight loss ORPHA:330001
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Myoclonus, Microcephaly ORPHA:1352
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short stature, Kyphosis, Bilateral camptodactyly, Growth delay, Scoliosis, Hip subluxation OMIM:619557
Ménétrier Disease
Anorexia, Weight loss ORPHA:2494
Diamond-Blackfan Anemia 1
Failure to thrive, Short stature, Short neck, Microcephaly, Hypoplastic sacral vertebrae, Bifid t... OMIM:105650
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Kyphosis, Dysphagia, Hypopnea, Restrictive ventilatory defect, Aspiration... OMIM:619482
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal j... OMIM:618223
Al Amyloidosis
Dyspnea, Nonproductive cough, Weight loss, Dysphagia, Autonomic erectile dysfunction ORPHA:85443
Menkes Disease
Tarsal synostosis, Microcephaly, Chorea, Hypertonia, Wormian bones, Intrauterine growth retardati... ORPHA:565
Neuroendocrine Tumor Of The Colon
Bronchospasm, Anorexia, Weight loss ORPHA:100080
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... ORPHA:881
Unilateral Polymicrogyria
Apnea, Epistaxis, Involuntary movements, Microcephaly, Spastic tetraplegia, Hemiparesis, Poor fin... ORPHA:268943
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Microcephaly, Cryptorchidism, Partial agenesis of the corpus callosum, A... OMIM:615948
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity ORPHA:83629
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short stature, Short neck, Cryptorchidism, Kyphosis, Scoliosis, Macrocephaly OMIM:616894
Thymic Neuroendocrine Tumor
Weight loss, Abnormal breath sound, Cough ORPHA:97289
Polyarteritis Nodosa
Weight loss ORPHA:767
Peters Plus Syndrome
Sacral dimple, Short stature, Rhizomelia, Short neck, Microcephaly, Cryptorchidism, Hydrocephalus... ORPHA:709
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Growth delay, Intrauterine growth retardation, Postn... ORPHA:93325
Short Syndrome
Severe short stature, Weight loss ORPHA:3163
Autosomal Recessive Robinow Syndrome
Sacral dimple, Camptodactyly of finger, Short neck, Elbow dislocation, Cryptorchidism, Kyphosis, ... ORPHA:1507
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss OMIM:605543
Tetraamelia Syndrome 1
Choanal atresia, Asplenia, Hydrocephalus, Single naris, Adrenal gland agenesis OMIM:273395
Sotos Syndrome
Sacrococcygeal teratoma, Ventriculomegaly, Hip contracture, Ankle flexion contracture, Aggressive... ORPHA:821
Thymoma
Dyspnea, Weight loss, Rheumatoid arthritis, Cough ORPHA:99867
Fanconi Anemia, Complementation Group A
Male infertility, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Micro... OMIM:227650
Primary Hepatic Neuroendocrine Carcinoma
Dyspnea, Bronchospasm, Anorexia, Weight loss ORPHA:100085
Joubert Syndrome 38
Oculomotor apraxia, Short stature, Molar tooth sign on MRI OMIM:619476
Mosaic Trisomy 20
Vertebral fusion, Cryptorchidism, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vert... ORPHA:1724
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Short stature, Microcephaly, Cervical C2/C3 vertebral fusion, Asthma, Obesity, Asp... ORPHA:444077
Somatomammotropinoma
Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Kyphosis, Osteoarthritis, Spinal can... ORPHA:314769
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity ORPHA:254930
Cap Polyposis
Weight loss ORPHA:160148
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Bullous Pemphigoid
Weight loss ORPHA:703
Cowden Syndrome
Ataxia, Short stature, Kyphosis, Scoliosis, Macrocephaly, Failure to thrive ORPHA:201
Medullary Thyroid Carcinoma
Weight loss, Dysphagia ORPHA:1332
Neuroendocrine Tumor Of The Rectum
Bronchospasm, Anorexia, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Bronchospasm, Anorexia, Weight loss ORPHA:100082
Limb Body Wall Complex
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Abnormality of the ver... ORPHA:2369
Classic Homocystinuria
Anorexia, Pulmonary embolism, Kyphosis, Hemiplegia/hemiparesis, Genu valgum, Scoliosis ORPHA:394
Focal Dermal Hypoplasia
Congenital hip dislocation, Short stature, Microcephaly, Cryptorchidism, Hydrocephalus, Myelomeni... OMIM:305600
Tropical Endomyocardial Fibrosis
Orthopnea, Dyspnea, Pulmonary venous hypertension, Cachexia ORPHA:75565
Primary Intestinal Lymphangiectasia
Growth delay, Pleural effusion, Weight loss ORPHA:90362
Oeis Complex
Absence of the sacrum, Congenital hip dislocation, Cryptorchidism, Hydrocephalus, Sacral segmenta... OMIM:258040
Juvenile Dermatomyositis
Cough, Dyspnea, Weight loss, Restrictive ventilatory defect, Arthritis, Dysphagia ORPHA:93672
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Apnea, Abnormality of the menstrual cycle, Elbow dislocation, Osteoarthritis, ... ORPHA:285
Arnold-Chiari Malformation Type I
Chiari type I malformation, Myelopathy, Brain stem compression ORPHA:268882
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Kyphosis, Unsteady gait, Difficulty walking, Scoliosis, Progre... ORPHA:90324
Drug Reaction With Eosinophilia And Systemic Symptoms
Dyspnea, Interstitial pneumonitis, Weight loss, Cough ORPHA:139402
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cough, Dyspnea, Weight loss, Aspiration pneumonia, Dysphagia, Failure to thrive ORPHA:1018
Mandibuloacral Dysplasia With Type A Lipodystrophy
Postnatal growth retardation, Elbow flexion contracture, Growth delay, Wormian bones, Delayed cra... OMIM:248370
Acromegaly
Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Kyphosis, Osteoarthritis, Spinal can... ORPHA:963
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus, Depressed nasal bridge ORPHA:1571
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Arthritis, Limitation of knee mobility, I... OMIM:203500
Anemia, Congenital Dyserythropoietic, Type Iv
Wide anterior fontanel, Short stature, Weight loss OMIM:613673
Acute Adrenal Insufficiency
Decreased female libido, Salt craving, Anorexia, Weight loss, Delayed puberty, Failure to thrive ORPHA:95409
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Fraser Syndrome 1
Encephalocele, Wide nose, Cleft ala nasi, Depressed nasal bridge, Underdeveloped nasal alae, Cryp... OMIM:219000
Loeys-Dietz Syndrome 1
Craniosynostosis, Hydrocephalus, Scoliosis, Cervical spine instability OMIM:609192
Cystinosis, Nephropathic
Male infertility, Failure to thrive in infancy, Short stature, Oral-pharyngeal dysphagia, Weight ... OMIM:219800
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... ORPHA:79102
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Stevens-Johnson Syndrome
Dyspareunia, Cough, Dyspnea, Weight loss, Restrictive ventilatory defect, Dysphagia ORPHA:36426
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Chronic sinusitis, Decreased nasal nitric oxide, Cough OMIM:619607
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Sacral dimple, Large fontanelles, Exencephaly, Delayed cranial suture closure ORPHA:2211
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Microcephaly, Olivopontocerebellar hypoplasia, Cryptorchidism, Hypoplasia ... ORPHA:284339
Solitary Fibrous Tumor
Low back pain, Weight loss ORPHA:2126
Chromosome Xq26.3 Duplication Syndrome
Kyphosis, Polyphagia OMIM:300942
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:29072
Early-Onset Lafora Body Disease
Ataxia, Myoclonus, Spastic tetraparesis ORPHA:324290
Osteogenesis Imperfecta, Type I
Wormian bones, Otosclerosis, Biconcave flattened vertebrae OMIM:166200
Hunter-Macdonald Syndrome
Short stature, Premature osteoarthritis, Large fontanelles, Scoliosis, Cubitus valgus, Joint cont... OMIM:611962
Osteoporosis-Pseudoglioma Syndrome
Short stature, Kyphoscoliosis, Microcephaly, Kyphosis, Platyspondyly, Scoliosis, Biconcave verteb... OMIM:259770
Amoebiasis Due To Entamoeba Histolytica
Dyspnea, Weight loss, Pleural empyema, Cough, Pleural effusion ORPHA:67
Occipital Horn Syndrome
Kyphosis, Large fontanelles, Hip dislocation, Genu valgum, Platyspondyly, Scoliosis, Dysphagia, A... ORPHA:198
Simpson-Golabi-Behmel Syndrome, Type 1
Neonatal respiratory distress, Cryptorchidism, Hydrocephalus, Macrocephaly, Vertebral segmentatio... OMIM:312870
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Arthropathy, Arthritis, Wormian bones, Large fontanelles OMIM:259100
Malignant Atrophic Papulosis
Pain insensitivity, Pleural effusion, Respiratory failure, Weight loss ORPHA:679
Simple Cryoglobulinemia
Arthritis, Paresthesia, Spontaneous pain sensation, Weight loss ORPHA:91139
Q Fever
Respiratory distress, Pneumonia, Anorexia, Weight loss, Cough, Pleural effusion ORPHA:781
Yunis-Varon Syndrome
Wide cranial sutures, Congenital hip dislocation, Small for gestational age, Anterior concavity o... OMIM:216340
Hermansky-Pudlak Syndrome
Menometrorrhagia, Epistaxis, Anorexia, Dyspnea, Weight loss ORPHA:79430
Toxic Epidermal Necrolysis
Respiratory distress, Cough, Weight loss, Restrictive ventilatory defect, Dysphagia, Polydipsia ORPHA:537
Shprintzen Omphalocele Syndrome
Neonatal respiratory distress, Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decrease... OMIM:182210
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Broad-based gait, Exaggerated startle response, Apnea, Involuntary movements, Sh... ORPHA:438213
Loeys-Dietz Syndrome 2
Spontaneous pneumothorax, Protrusio acetabuli, Craniosynostosis, Hydrocephalus, Scoliosis, Joint ... OMIM:610168
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Bilateral cryptorchidis... ORPHA:1772
Paget Disease Of Bone 2, Early-Onset
Brain stem compression OMIM:602080
Addison Disease
Primary testicular failure, Premature ovarian insufficiency, Salt craving, Anorexia, Decreased fe... ORPHA:85138
Hydrolethalus Syndrome 1
Accessory spleen, Anencephaly, Stillbirth, Bifid nose, Midline defect of the nose, Severe hydroce... OMIM:236680
Noonan Syndrome 1
Male infertility, Failure to thrive in infancy, Short stature, Kyphoscoliosis, Short neck, Postna... OMIM:163950
Refractory Celiac Disease
Weight loss ORPHA:398063
Aspartylglucosaminuria
Short stature, Microcephaly, Kyphosis, Spasticity, Platyspondyly, Spondylolysis, Scoliosis, Macro... OMIM:208400
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Severe short stature, Camptodactyly of finger, Microcephaly, Cryptorchidism, Kyphosis, Growth del... ORPHA:2273
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Kyphosis, Microcephaly OMIM:619123
Mandibuloacral Dysplasia With Type A Lipodystrophy
Wormian bones, Large fontanelles, Short stature ORPHA:90153
Roberts-Sc Phocomelia Syndrome
Ankle flexion contracture, Short neck, Microcephaly, Cryptorchidism, Hydrocephalus, Frontal encep... OMIM:268300
Nephroblastoma
Weight loss ORPHA:654
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Weight loss ORPHA:54251
Polycythemia Vera
Weight loss, Epistaxis, Respiratory insufficiency, Pulmonary embolism ORPHA:729
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Granulomatosis With Polyangiitis
Sinusitis, Epistaxis, Chronic pulmonary obstruction, Respiratory insufficiency, Weight loss, Rest... ORPHA:900
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Pallister-Killian Syndrome
Congenital hip dislocation, Short neck, Apneic episodes in infancy, Hypertonia, Camptodactyly of ... OMIM:601803
Renal Nutcracker Syndrome
Dyspareunia, Weight loss, Dysmenorrhea, Infertility ORPHA:71273
Occipital Horn Syndrome
Persistent open anterior fontanelle, Kyphosis, Capitate-hamate fusion, Genu valgum, Growth delay,... OMIM:304150
Immunodeficiency 31C
Short stature, Cough, Bronchiectasis, Weight loss, Growth delay, Delayed puberty OMIM:614162
Poland Syndrome
Encephalocele, Short neck, Microcephaly, Cryptorchidism, Kyphosis, Hemivertebrae, Finger symphala... ORPHA:2911
Granulomatosis With Polyangiitis
Sinusitis, Respiratory insufficiency, Weight loss, Cough, Rhinorrhea OMIM:608710
Exstrophy-Epispadias Complex
Spina bifida, Microcephaly, Cryptorchidism, Hydrocephalus, Abnormal joint morphology, Male sexual... ORPHA:322
Insulin-Resistance Syndrome Type B
Pneumonia, Abnormality of body weight, Osteoarthritis, Increased body weight, Weight loss, Decrea... ORPHA:2298
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Nocardiosis
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... ORPHA:31204
Sarcoidosis, Susceptibility To, 1
Anorexia, Dyspnea, Bronchiectasis, Weight loss, Hypoxemia, Restrictive ventilatory defect, Pleura... OMIM:181000
Hutchinson-Gilford Progeria Syndrome
Relative macrocephaly, Limitation of movement at ankles, Female hypogonadism, Limited wrist movem... ORPHA:740
Neuroendocrine Tumor Of Stomach
Bronchospasm, Anorexia, Weight loss ORPHA:100075
Doors Syndrome
Respiratory distress, Sagittal craniosynostosis, Microcephaly, Hemivertebrae, Lumbar scoliosis, M... ORPHA:79500
Pemphigus Vulgaris
Weight loss ORPHA:704
Multiple Myeloma
Pleural effusion, Vertebral compression fracture, Paresthesia, Weight loss ORPHA:29073
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Oligoarthritis, Sacroiliac arthritis, Hip osteoarthritis OMIM:106300
Familial Pancreatic Carcinoma
Back pain, Anorexia, Weight loss ORPHA:1333
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Failure to thrive in infancy, Scoliosis, Hyperlordosis OMIM:162300
Rat-Bite Fever
Back pain, Oligoarthritis, Weight loss, Arthritis, Septic arthritis ORPHA:31205
Neutral Lipid Storage Myopathy
Short stature, Obesity, Difficulty walking, Fasciculations ORPHA:98908
Familial Thrombocytosis
Pulmonary arterial hypertension, Paresthesia, Weight loss ORPHA:71493
Multiple Endocrine Neoplasia Type 1
Anorexia, Depression, Weight loss, Impotence, Lethargy, Decreased male libido, Amenorrhea ORPHA:652
Ramon Syndrome
Short stature, Kyphosis, Scoliosis, Decreased body weight, Juvenile rheumatoid arthritis OMIM:266270
Familial Osteodysplasia, Anderson Type
Elbow dislocation, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypogonadotropic hypogonadism, Short stature, Abnormality of the menstrual cycle, Decreased ferti... ORPHA:90794
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Myoclonic spasms ORPHA:73224
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus, Babinski sign, Hemiparesis, Tetraparesis, Hemiplegia, Spasticity, Facial paralysis OMIM:175780
Cystic Fibrosis
Male infertility, Reduced forced expiratory volume in one second, Reduced forced vital capacity, ... OMIM:219700
Parathyroid Carcinoma
Testicular neoplasm, Weight loss, Dysphagia, Polydipsia, Chondrocalcinosis ORPHA:143
Budd-Chiari Syndrome
Weight loss ORPHA:131
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Genu varum, An... OMIM:300106
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Townes-Brocks Syndrome 1
Small for gestational age, Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Metata... OMIM:107480
Crimean-Congo Hemorrhagic Fever
Epistaxis, Anorexia, Orchitis, Emotional lability, Agitation, Fasciculations, Pulmonary arterial ... ORPHA:99827
Caroli Disease
Anorexia, Weight loss ORPHA:53035
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Increased body weight, Secondary amenorrhea, Depression, Weight loss, Truncal obesity, ... ORPHA:99889
Primary Sclerosing Cholangitis
Pleural effusion, Weight loss, Depression ORPHA:171
Kikuchi-Fujimoto Disease
Pleural effusion, Ataxia, Anorexia, Weight loss ORPHA:50918
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Carney-Stratakis Syndrome
Weight loss, Dysphagia ORPHA:97286
Castleman Disease
Dyspnea, Weight loss, Cough ORPHA:160
Postinfectious Vasculitis
Pneumonia, Anorexia, Orchitis, Weight loss, Arthritis ORPHA:48435
Reactive Arthritis
Arthritis, Joint swelling, Respiratory insufficiency, Weight loss ORPHA:29207
Chronic Graft Versus Host Disease
Anorexia, Dyspnea, Wheezing, Pneumothorax, Bronchiectasis, Dysphagia, Weight loss, Arthritis, Cou... ORPHA:99921
Myoclonic Epilepsy Of Lafora
Gait disturbance, Myoclonus, Apraxia OMIM:254780
Gallbladder Neuroendocrine Tumor
Anorexia, Weight loss ORPHA:100086
Glucagonoma
Weight loss, Anorexia, Depression ORPHA:97280
Sarcoidosis
Abnormal cerebrospinal fluid morphology, Dyspnea, Pneumothorax, Bronchiectasis, Upper airway obst... ORPHA:797
Mandibuloacral Dysplasia Progeroid Syndrome
Postnatal growth retardation, Short stature, Delayed cranial suture closure, Genu valgum OMIM:619127
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Lymphedema-Distichiasis Syndrome
Kyphosis, Chylothorax OMIM:153400
Dermatomyositis
Respiratory insufficiency, Weight loss, Arthritis, Pulmonary arterial hypertension, Chondrocalcin... ORPHA:221
Viss Syndrome
Recurrent joint dislocation, Short stature, Microcephaly, Dyspnea, Asthma, Pneumothorax, Kyphosis... OMIM:619472
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Vipoma
Respiratory insufficiency due to muscle weakness, Anorexia, Weight loss ORPHA:97282
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Aprosencephaly, Craniosynostosis OMIM:601374
Craniofacial Microsomia 1
Occipital encephalocele, Block vertebrae, Hydrocephalus, Hemivertebrae, Genu valgum, Scoliosis, A... OMIM:164210
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Weight loss ORPHA:309031
Klatskin Tumor
Weight loss ORPHA:99978
17Q11 Microdeletion Syndrome
Abnormal central motor function, Short stature, Kyphosis, Abnormality of the vertebral column, Be... ORPHA:97685
Ayme-Gripp Syndrome
Radioulnar synostosis, Short stature, Delayed cranial suture closure OMIM:601088
Ppoma
Anorexia, Weight loss ORPHA:97278
Branchiooculofacial Syndrome
Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Microcephaly, Elbow flexion contracture, Pos... OMIM:113620
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Anorexia, Bronchiectasis, Weight loss, Arthritis, Joint swelling OMIM:619381
Somatostatinoma
Anorexia, Weight loss ORPHA:97283
Alström Syndrome
Respiratory distress, Thoracic scoliosis, Hypoplasia of the Leydig cells, Ataxia, Short stature, ... ORPHA:64
Grfoma
Anorexia, Weight loss ORPHA:97261
Pyomyositis
Weight loss, Testicular teratoma ORPHA:764
Saethre-Chotzen Syndrome
Short stature, Radioulnar synostosis, Lambdoidal craniosynostosis, Coronal craniosynostosis, Dela... OMIM:101400
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Igg4-Related Kidney Disease
Interstitial pneumonitis, Weight loss, Chronic sinusitis, Prostatitis ORPHA:449395
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Arthritis, Weight loss OMIM:301074
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Primary Fanconi Renotubular Syndrome
Growth delay, Weight loss ORPHA:3337
Tropical Pancreatitis
Weight loss ORPHA:103918
Pancreatoblastoma
Weight loss ORPHA:677
Goodpasture Syndrome
Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Cough, Exertion... OMIM:233450
Malt Lymphoma
Weight loss ORPHA:52417
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss ORPHA:79078
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Weight loss ORPHA:91500

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 Hydin

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 Hydin.

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

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
Hydintm3a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hydintm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hydintm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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