Autoimmunity, and Cerebellar atrophy

Diseases related with Autoimmunity and Cerebellar atrophy

In the following list you will find some of the most common rare diseases related to Autoimmunity and Cerebellar atrophy that can help you solving undiagnosed cases.


Top matches:

Low match AICARDI-GOUTIERES SYNDROME 1; AGS1


Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

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Low match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7


A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7 Is also known as pme type 7|progressive myoclonus epilepsy type 7|epm7|myoclonus epilepsy and ataxia due to potassium channel mutation|meak|progressive myoclonic epilepsy due to kv3.1 deficiency

Related symptoms:

  • Seizures
  • Ataxia
  • Tremor
  • Cerebellar atrophy
  • Myoclonus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match SPINOCEREBELLAR ATAXIA TYPE 5


Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.

SPINOCEREBELLAR ATAXIA TYPE 5 Is also known as sca5

Related symptoms:

  • Gait disturbance
  • Cerebellar atrophy
  • Slurred speech
  • Incoordination


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 5

Low match CLN11 DISEASE


Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by Smith et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Seizures
  • Ataxia
  • Visual impairment
  • Optic atrophy
  • Cerebellar atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLN11 DISEASE

Low match LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11


Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Myopia


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE


Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE Is also known as sedaghatian chondrodysplasia|metaphyseal chondrodysplasia, congenital lethal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

Top 5 symptoms//phenotypes associated to Autoimmunity and Cerebellar atrophy

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Mental deterioration Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Cerebellar atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Muscular hypotonia Recurrent infections Cognitive impairment Fever Generalized hypotonia Abnormality of the dentition Depressivity Optic atrophy Gait disturbance Myopia Motor delay Tremor Anemia Depressed nasal bridge Basal ganglia calcification Peripheral demyelination Delusions Anxiety Growth delay Scoliosis Short stature Hallucinations Psychosis Kyphosis Delayed skeletal maturation Dysmetria Cataract Microcephaly Nystagmus Spasticity Hepatomegaly Cerebral atrophy Thrombocytopenia Immunodeficiency Hearing impairment Hypothyroidism Dementia

Rare Symptoms - Less than 30% cases


Focal segmental glomerulosclerosis Behavioral abnormality Intellectual disability, severe Gliosis Migraine Hernia Nephrotic syndrome Chronic kidney disease Posteriorly rotated ears Hypoplasia of the corpus callosum Glomerulopathy Atrial septal defect Transient ischemic attack Cerebral ischemia Hydrocephalus Inguinal hernia Arthritis Delayed speech and language development Umbilical hernia Abnormality of the pinna Hypoparathyroidism Congenital cataract Arrhythmia Neurological speech impairment Hip dysplasia Type II diabetes mellitus Hypertrichosis Gingival overgrowth Visual impairment Respiratory insufficiency Visual loss Cerebellar hypoplasia Areflexia Hypogonadism EEG abnormality Apnea Generalized myoclonic seizures Atrioventricular block Abnormality of neuronal migration Heart block Cardiorespiratory arrest Gait ataxia Myopathy Anal atresia Psychotic episodes Specific learning disability Amenorrhea Hypocalcemia Purpura Schizophrenia Vitiligo Nephropathy Seborrheic dermatitis Myoclonus Ventriculomegaly Hypertelorism Sensorineural hearing impairment Muscle weakness Pain Hyperreflexia Dysarthria Skeletal muscle atrophy Talipes equinovarus Abnormal cerebellum morphology Confusion Bulbous nose Vomiting Stroke Encephalopathy Feeding difficulties in infancy Developmental regression Abnormality of the cerebral white matter Proteinuria Osteopenia Headache Renal insufficiency Congestive heart failure Diarrhea Cardiomyopathy Pneumonia Hypertension Abnormal facial shape Brain atrophy Cerebral calcification Intellectual disability, profound Leukodystrophy Encephalitis Systemic lupus erythematosus Strabismus Dystonia Feeding difficulties Abnormality of the skeletal system Corneal opacity Splenomegaly Platyspondyly Agenesis of corpus callosum Cerebral cortical atrophy Hepatosplenomegaly Malabsorption Truncal ataxia EMG abnormality Generalized hirsutism Hypogonadotrophic hypogonadism Osteoporosis Synovial hypertrophy Abnormality of dental structure Type I diabetes mellitus Exercise intolerance Macular degeneration Pancreatitis Progressive joint destruction Clonus Cardiac arrest Reduced tendon reflexes Cerebral visual impairment Flattened moderately deformed vertebrae Abnormality of retinal pigmentation Anorexia Left ventricular hypertrophy Decreased body weight Involuntary movements Hemiparesis Atrial fibrillation Spinocerebellar tract disease in lower limbs Ventricular hypertrophy External ophthalmoplegia Ischemic stroke Ragged-red muscle fibers Aortic aneurysm Bundle branch block Adrenal insufficiency Overlapping toe Hypoplastic inferior ilia Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Hemiplegia Ptosis Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Abnormality of the ilium Cachexia Abnormality of joint mobility Growth abnormality Antineutrophil antibody positivity Easy fatigability Hyperkinesis Goiter Mutism Hypopigmented skin patches Failure to thrive Bilateral sensorineural hearing impairment Status epilepticus Protruding ear Carious teeth Ophthalmoplegia Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Hyporeflexia Pruritus Dilated cardiomyopathy Attention deficit hyperactivity disorder Nyctalopia Abnormality of the liver Erythema Dilatation Delayed puberty Hypertrophic cardiomyopathy Myalgia Elevated serum creatine phosphokinase Constipation Photophobia Jaundice Gastroesophageal reflux Acidosis Dyspnea Autism Weight loss Abdominal pain Diabetes mellitus Nausea and vomiting Paresthesia Pulmonary arterial hypertension Respiratory distress Rod-cone dystrophy Generalized-onset seizure Elevated hepatic transaminase Peripheral neuropathy Abnormality of the cardiovascular system Pigmentary retinopathy Fatigue Memory impairment Increased serum lactate Dysphagia Sensory impairment Sudden cardiac death Blindness Ichthyosis Vestibular dysfunction Hypertonia Muscle cramps Postural instability Glaucoma Coma Polyneuropathy Hirsutism Polymicrogyria Nausea Lactic acidosis Peripheral axonal neuropathy Vertigo Aphasia Thyroiditis Dysphasia Short palm Cone-shaped epiphysis Redundant skin Poor suck Short long bone Lissencephaly Accelerated skeletal maturation Short ribs Short toe Rhizomelia Short phalanx of finger Pachygyria Abnormality of the ribs Limb undergrowth Short metacarpal Narrow chest Thoracic hypoplasia Respiratory failure Brachydactyly CNS hypomyelination Abnormality of the nervous system Progressive visual loss Retinal dystrophy Incoordination Slurred speech Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Metaphyseal irregularity Cortical gyral simplification Abnormal cochlea morphology Narrow greater sacrosciatic notches Horizontal inferior border of scapula Irregular tarsal bones Widened sacrosciatic notch Focal lissencephaly Iliac crest serration Cone-shaped metacarpal epiphyses Rhizomelic arm shortening Abnormality of the scapula Large posterior fontanelle Myocardial necrosis Long fibula Pulmonary hemorrhage Cupped ribs Third degree atrioventricular block Coronal cleft vertebrae Short finger Flat acetabular roof Disproportionate short stature Metaphyseal dysplasia Turricephaly Cone-shaped epiphyses of the phalanges of the hand Delayed epiphyseal ossification Hyperphosphatemia Hypoplastic iliac wing Porencephalic cyst Myocarditis 11 pairs of ribs Flared iliac wings Spondylometaphyseal dysplasia Metaphyseal chondrodysplasia Metaphyseal cupping Homonymous hemianopia Paralytic ileus Hyperkalemia Neonatal hypoglycemia Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Xerostomia Abnormality of visual evoked potentials Left ventricular failure Rhabdomyolysis Visual field defect Prolonged QT interval Multiple lipomas Vertebral fusion Progressive sensorineural hearing impairment Hyperthyroidism Generalized abnormality of skin Hashimoto thyroiditis Abnormality of immune system physiology Primary adrenal insufficiency Pulmonary embolism Distal arthrogryposis Drowsiness Atopic dermatitis Stroke-like episode Speech apraxia Abnormal mitochondrial shape Auditory hallucinations Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Amaurosis fugax Retinal pigment epithelial atrophy Motor polyneuropathy Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Hemianopia Abnormality of the renal tubule Episodic vomiting Dysesthesia Gastroparesis Psychomotor deterioration Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Decreased pulmonary function Abnormal echocardiogram Increased hepatic glycogen content Blepharophimosis CSF pleocytosis Tetralogy of Fallot Autoamputation Multiple gastric polyps Renal agenesis Underdeveloped nasal alae Vesicoureteral reflux Chorea Bifid uvula Hemolytic anemia CSF lymphocytic pleiocytosis Chilblains Pulmonic stenosis Chronic CSF lymphocytosis Deep white matter hypodensities Primary amenorrhea Increased CSF interferon alpha Aggressive behavior Conductive hearing impairment Intrauterine growth retardation Retrognathia Hyperactivity Abnormal heart morphology Patent ductus arteriosus Hypospadias Obesity Absent speech Abnormality of cardiovascular system morphology Thin upper lip vermilion Ventricular septal defect Low posterior hairline Open mouth High palate Psoriasiform dermatitis Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Abnormality of the ear Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Acne Unilateral renal agenesis Obsessive-compulsive behavior Apathy Rheumatoid arthritis Renal dysplasia Dysdiadochokinesis Cholelithiasis Nasal speech Abnormality of the hand Diffuse cerebral atrophy Arnold-Chiari malformation Bicuspid aortic valve Holoprosencephaly Morphological abnormality of the pyramidal tract Narrow palpebral fissure Multicystic kidney dysplasia Vegetative state Spina bifida Lymphocytosis Abnormality of the kidney Cleft palate Acrocyanosis Bone marrow hypocellularity Emphysema Hip dislocation Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Coarse hair Reduced bone mineral density Azoospermia Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Lymphopenia Combined immunodeficiency Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Abnormal lung morphology Fine hair Lumbar hyperlordosis Microdontia Decreased testicular size Waddling gait Lymphoma Premature birth Astigmatism Stage 5 chronic kidney disease Abnormality of skin pigmentation High pitched voice Hypermelanotic macule Hyperlordosis Hypoplasia of the capital femoral epiphysis Scarring Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Arteriosclerosis Steatorrhea Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Abnormality of the vasculature Protuberant abdomen Multiple cafe-au-lait spots Bipolar affective disorder Progressive encephalopathy Increased vertebral height Progressive neurologic deterioration Heart murmur Chronic otitis media Prominent supraorbital ridges Increased intracranial pressure Widely spaced teeth Recurrent bacterial infections Narrow palate Low anterior hairline Spastic gait Limb ataxia Muscular hypotonia of the trunk Amblyopia Tall stature Bowing of the long bones Depressed nasal ridge Bowing of the legs Pancytopenia Irritability Optic disc pallor Skin rash Otitis media Decreased antibody level in blood Dental malocclusion Delayed myelination Progressive cerebellar ataxia Macroglossia Neurodegeneration Highly arched eyebrow Thick eyebrow Retinal degeneration Flat occiput Open bite Genu valgum Craniofacial hyperostosis Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Neutropenia Synovitis Abnormal cornea morphology Abnormality of the rib cage Spondylolisthesis Bowel incontinence Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Abnormality of the sternum Femoral bowing Neurodevelopmental delay Severe global developmental delay Abnormality of the foot Hearing abnormality Mood swings Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Prolonged neonatal jaundice Conotruncal defect Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Platybasia Right aortic arch with mirror image branching Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Atrophy/Degeneration affecting the brainstem Juvenile rheumatoid arthritis Pulmonary artery atresia Abnormality of the endocrine system Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Episodic fever Meningocele Congenital conductive hearing impairment Sacral meningocele Hypermetropia Intellectual disability, mild Broad forehead Pectus carinatum Respiratory tract infection Coarse facial features Skeletal dysplasia Kyphoscoliosis Macrotia Mandibular prognathia Tetraplegia Prominent forehead Recurrent respiratory infections Babinski sign Midface retrusion Malar flattening Hepatitis Unilateral lung agenesis Cerebral palsy Unilateral primary pulmonary dysgenesis Congenital glaucoma Petechiae Spastic diplegia Abnormality of movement Poor head control Epicanthus Abnormality of extrapyramidal motor function Leukoencephalopathy Progressive microcephaly Macrocephaly Postnatal microcephaly Frontal bossing Spastic tetraplegia 11 thoracic vertebrae



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