Autoimmunity, and Anxiety
Diseases related with Autoimmunity and Anxiety
In the following list you will find some of the most common rare diseases related to Autoimmunity and Anxiety that can help you solving undiagnosed cases.
Top matches:
Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.
CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1
Related symptoms:
- Seizures
- Short stature
- Ataxia
- Failure to thrive
- Anemia
SOURCES:
OMIM
MENDELIAN
More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1
Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.
PSEUDOHYPOPARATHYROIDISM TYPE 1B Is also known as php ib
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Nystagmus
- Cataract
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about PSEUDOHYPOPARATHYROIDISM TYPE 1B
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Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).
PSEUDOHYPOPARATHYROIDISM TYPE 1C Is also known as php ic
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Nystagmus
- Cataract
SOURCES:
ORPHANET
MESH
OMIM
MENDELIAN
More info about PSEUDOHYPOPARATHYROIDISM TYPE 1C
Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).
PSEUDOHYPOPARATHYROIDISM TYPE 1A Is also known as albright hereditary osteodystrophy-php syndrome ia|aho-php syndrome ia
Related symptoms:
- Intellectual disability
- Short stature
- Nystagmus
- Strabismus
- Sensorineural hearing impairment
SOURCES:
ORPHANET
MENDELIAN
More info about PSEUDOHYPOPARATHYROIDISM TYPE 1A
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
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
22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES:
ORPHANET
MENDELIAN
More info about 22Q11.2 DELETION SYNDROME
Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.
KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
MENDELIAN
More info about KABUKI SYNDROME 1; KABUK1
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
Top 5 symptoms//phenotypes associated to Autoimmunity and Anxiety
Symptoms // Phenotype |
% cases |
Depressivity |
Very Common - Between 80% and 100% cases
|
Short stature |
Common - Between 50% and 80% cases
|
Intellectual disability |
Common - Between 50% and 80% cases
|
Cataract |
Common - Between 50% and 80% cases
|
Seizures |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Autoimmunity and Anxiety. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Short neck
Uncommon Symptoms - Between 30% and 50% cases
Obesity
Common Symptoms - More than 50% cases
Hypocalcemia
Uncommon Symptoms - Between 30% and 50% cases
Anemia
Hearing impairment
Muscular hypotonia
Hypothyroidism
Global developmental delay
Nystagmus
Purpura
Cognitive impairment
Abnormality of the dentition
Growth hormone deficiency
Prolonged QT interval
Depressed nasal bridge
Hypoplasia of dental enamel
Brachydactyly
Muscle cramps
Hyporeflexia
Confusion
Cerebral calcification
Strabismus
Dyspnea
Irritability
Basal ganglia calcification
Paresthesia
Anal atresia
Microcephaly
Scoliosis
Immunodeficiency
Failure to thrive
Hyperphosphatemia
Epicanthus
Hydrocephalus
Conjunctivitis
Increased bone mineral density
Atrial septal defect
Short metacarpal
Round face
Chest pain
Full cheeks
Behavioral abnormality
Cerebellar atrophy
Elevated circulating parathyroid hormone level
Recurrent infections
Abnormality of the pinna
Hernia
Hypospadias
Patent ductus arteriosus
Mental deterioration
Inguinal hernia
Arthritis
Calcinosis
Specific learning disability
Autoimmune antibody positivity
Cleft palate
Hallucinations
Generalized hypotonia
Schizophrenia
Sensorineural hearing impairment
Vitiligo
Hypoparathyroidism
Delusions
Umbilical hernia
Seborrheic dermatitis
Abnormal facial shape
Ventricular septal defect
Laryngeal dystonia
Abnormality of the skeletal system
Dysmetria
Growth delay
Hypertelorism
Pituitary resistance to thyroid hormone
Low urinary cyclic AMP response to PTH administration
Abdominal symptom
Hypocalcemic tetany
Myoclonic spasms
Hypocalcemic seizures
Psychosis
Pseudohypoparathyroidism
Delayed eruption of teeth
Malabsorption
Intellectual disability, mild
Diarrhea
Fatigue
Osteoporosis
Autoimmune thrombocytopenia
Thyroiditis
Ataxia
Ptosis
Kyphosis
Feeding difficulties in infancy
Optic atrophy
Patellar dislocation
Thrombocytopenia
Renal insufficiency
Rare Symptoms - Less than 30% cases
Gastroesophageal reflux
Nasal speech
Autism
Renal dysplasia
Constipation
Cryptorchidism
Amenorrhea
Peripheral demyelination
Micrognathia
Tetralogy of Fallot
Spina bifida
Wide nasal bridge
Hyperreflexia
Myalgia
Bundle branch block
Polymicrogyria
Jaundice
Hirsutism
Visual loss
Feeding difficulties
Anorectal anomaly
Congenital cataract
Hyperthyroidism
Vesicoureteral reflux
Dysphasia
Hypopigmented skin patches
Hashimoto thyroiditis
Intestinal malrotation
Carious teeth
Attention deficit hyperactivity disorder
Hemolytic anemia
Bulbous nose
Anal stenosis
Cholelithiasis
Malar flattening
Macrotia
Gait ataxia
Delayed skeletal maturation
Pain
Areflexia
Cerebral atrophy
Motor delay
Splenomegaly
Respiratory tract infection
Myopathy
Hepatomegaly
Ventriculomegaly
Talipes equinovarus
Gait disturbance
Skeletal muscle atrophy
Myopia
Dysarthria
Muscle weakness
Neurological speech impairment
Acne
Gingival overgrowth
Autoimmune hemolytic anemia
Posterior embryotoxon
Bipolar affective disorder
Bowel incontinence
Meningocele
Chronic otitis media
Truncus arteriosus
Hypertrichosis
Highly arched eyebrow
Platybasia
Impaired T cell function
Type II diabetes mellitus
Hip dysplasia
Psychotic episodes
Otitis media
Decreased antibody level in blood
Dental malocclusion
Conductive hearing impairment
Protruding ear
Type I diabetes mellitus
Short 4th metacarpal
Hypertension
Osteoma cutis
Delayed puberty
Choroid plexus calcification
Broad distal phalanx of the thumb
Short fifth metatarsal
Short 3rd metacarpal
Ectopic ossification
Prolactin deficiency
Short 5th metacarpal
Constrictive median neuropathy
Oligomenorrhea
Involuntary movements
Celiac disease
Polyphagia
IgA deficiency
Short metatarsal
Hypergonadotropic hypogonadism
Postnatal growth retardation
Hypogonadism
Weight loss
Reduced bone mineral density
Vomiting
Tetany
Gastrointestinal hemorrhage
Abdominal pain
Thickened calvaria
High palate
Delayed speech and language development
Intellectual disability, severe
Polyneuropathy
Abnormality of cardiovascular system morphology
Abnormal heart morphology
Dementia
Fever
Posteriorly rotated ears
Apnea
Prominent eyelashes
Premature thelarche
Liver abscess
Sclerosing cholangitis
Single ventricle
Abnormality of the cerebellar vermis
Crossed fused renal ectopia
Common atrium
Epibulbar dermoid
Vertebral clefting
Abnormality of the middle ear
Recurrent aspiration pneumonia
Developmental regression
Hemeralopia
Erythema
Abnormal macular morphology
Prominent fingertip pads
Biliary atresia
Bronchomalacia
Diaphragmatic eventration
Abnormality of the liver
Ureteropelvic junction obstruction
Eversion of lateral third of lower eyelids
Pilonidal sinus
Short nasal septum
Respiratory insufficiency
Arrhythmia
Encephalopathy
Headache
Crohn's disease
Dystonia
Hypertonia
Congestive heart failure
Cerebellar hypoplasia
Rod-cone dystrophy
Blindness
Cardiomyopathy
Respiratory distress
Myoclonus
Dysphagia
Elevated serum creatine phosphokinase
Diabetes mellitus
Tremor
Recurrent ear infections
Visual impairment
Congenital mitral stenosis
Cerebral cortical atrophy
Anoperineal fistula
Nocturnal lagophthalmos
Acidosis
Photophobia
EEG abnormality
Vertical orbital dystopia
Proteinuria
Hypertrophic cardiomyopathy
Peripheral neuropathy
Retinal coloboma
Anterior plagiocephaly
Blue sclerae
Poor suck
Abnormality of the urinary system
Abnormal dermatoglyphics
Hyperbilirubinemia
Horseshoe kidney
Congenital hip dislocation
Increased body weight
Sparse and thin eyebrow
Abnormal vertebral morphology
Cafe-au-lait spot
Long eyelashes
Heterotopia
Recurrent otitis media
Small nail
Coarctation of aorta
Brittle hair
Abnormality of acid-base homeostasis
Congenital diaphragmatic hernia
Microdontia
Episodic quadriplegia
Prominent nose
Hypodontia
Single transverse palmar crease
Bilateral intracranial calcifications
Morphological abnormality of the vestibule of the inner ear
Wide nose
Morphological abnormality of the inner ear
Joint hypermobility
Astigmatism
Abnormal cardiac septum morphology
Failure to thrive in infancy
Precocious puberty
Spotty hypopigmentation
Short columella
Trichorrhexis nodosa
Broad philtrum
Paronychia
Small face
Abnormal mitochondrial morphology
Edema of the dorsum of hands
Cholangitis
Optic nerve coloboma
Cochlear malformation
Mitral stenosis
Stroke
Short 5th finger
Depressed nasal tip
Progressive night blindness
Scaphocephaly
Cupped ear
Paralytic ileus
Bilateral cryptorchidism
Preauricular pit
Hydroureter
Homonymous hemianopia
Right bundle branch block
Abnormal cochlea morphology
Long palpebral fissure
Overweight
Severe hearing impairment
Transposition of the great arteries
Cerebellar vermis atrophy
Congenital hypothyroidism
Abnormal mitochondrial shape
Cochlear degeneration
Nyctalopia
Heart block
Dilated cardiomyopathy
Growth abnormality
Aplasia/Hypoplasia of the cerebellum
Intestinal obstruction
Personality changes
Ophthalmoparesis
Coloboma
Abnormality of mitochondrial metabolism
Aortic aneurysm
Hemiplegia
Bilateral ptosis
Hypercalciuria
Decreased nerve conduction velocity
Cachexia
Atrioventricular block
Chronic kidney disease
Easy fatigability
Mask-like facies
Hyperkinesis
Goiter
Mutism
Ischemic stroke
Ragged-red muscle fibers
Reduced tendon reflexes
External ophthalmoplegia
Pancreatitis
Macular degeneration
Exercise intolerance
Hypogonadotrophic hypogonadism
Generalized hirsutism
EMG abnormality
Truncal ataxia
Bifid scrotum
Hemiplegia/hemiparesis
Clonus
Primary adrenal insufficiency
Xerostomia
Progressive external ophthalmoplegia
Neonatal hypoglycemia
Abnormality of visual evoked potentials
Posterior subcapsular cataract
Atopic dermatitis
Drowsiness
Distal arthrogryposis
Pulmonary embolism
Transient ischemic attack
Cardiorespiratory arrest
Facial diplegia
Aortic dissection
Renal tubular dysfunction
Abnormality of immune system physiology
Focal segmental glomerulosclerosis
Rhabdomyolysis
Tubulointerstitial nephritis
Glomerulopathy
Progressive sensorineural hearing impairment
Vertebral fusion
Multiple lipomas
Visual field defect
Visual hallucinations
Hyperkalemia
Vestibular dysfunction
Aphasia
Adrenal insufficiency
Overlapping toe
Abnormality of neuronal migration
Cardiac arrest
Increased CSF lactate
Pruritus
Lactic acidosis
Pigmentary retinopathy
Memory impairment
Leber optic atrophy
Increased serum lactate
Migraine
Sensory impairment
Sudden cardiac death
Generalized myoclonic seizures
Abnormal cerebellum morphology
Spontaneous hematomas
Postural instability
Coma
Nephropathy
Nausea
Gastroparesis
Persistence of primary teeth
Mitochondrial myopathy
Amaurosis fugax
Auditory hallucinations
Peripheral axonal neuropathy
Abnormal nerve conduction velocity
Vertigo
Ichthyosis
Renal Fanconi syndrome
Nausea and vomiting
Ophthalmoplegia
Arthrogryposis multiplex congenita
Lethargy
Tubulointerstitial abnormality
Generalized tonic-clonic seizures
Abnormality of the cardiovascular system
Generalized-onset seizure
Wolff-Parkinson-White syndrome
Hemianopia
Cerebral ischemia
Reduced consciousness/confusion
Cerebral visual impairment
Gait imbalance
Anterior hypopituitarism
Stroke-like episode
Left ventricular failure
Speech apraxia
Abnormality of retinal pigmentation
Retinal pigment epithelial atrophy
Abnormality of peripheral nerve conduction
Anorexia
Proximal tubulopathy
Ileus
Abnormality of the renal tubule
Bilateral sensorineural hearing impairment
Episodic vomiting
Motor polyneuropathy
Dysesthesia
Left ventricular hypertrophy
Psychomotor deterioration
Decreased body weight
Hemiparesis
Atrial fibrillation
Muscle fiber atrophy
Ventricular hypertrophy
Writer's cramp
Status epilepticus
Pulmonary arterial hypertension
Nephrotic syndrome
Hyponatremia
Abnormal echocardiogram
Paralysis
Unilateral renal agenesis
Juvenile rheumatoid arthritis
Pulmonary artery atresia
Abnormality of the endocrine system
Echolalia
Myelomeningocele
Pierre-Robin sequence
Hearing abnormality
Submucous cleft hard palate
Axonal loss
Abnormality of the ear
Myopathic facies
Inflammation of the large intestine
Hypoplasia of the brainstem
Obsessive-compulsive behavior
Graves disease
Apathy
Psoriasiform dermatitis
Rheumatoid arthritis
Dysdiadochokinesis
Abnormality of the hand
Arnold-Chiari malformation
Bicuspid aortic valve
Holoprosencephaly
Narrow palpebral fissure
Multicystic kidney dysplasia
Open mouth
Primary amenorrhea
Low posterior hairline
Renal agenesis
Aplasia of the uterus
Interrupted aortic arch
Chorea
Sacral meningocele
Coarse facial features
Skeletal dysplasia
Osteopenia
Kyphoscoliosis
Mandibular prognathia
Prominent forehead
Recurrent respiratory infections
Babinski sign
Midface retrusion
Frontal bossing
Macrocephaly
Spasticity
Unilateral primary pulmonary dysgenesis
Unilateral lung agenesis
Right aortic arch with mirror image branching
Perimembranous ventricular septal defect
Congenital conductive hearing impairment
Perineal fistula
Vascular ring
Central nervous system degeneration
Arteria lusoria
Aplasia of the thymus
Conotruncal defect
Velopharyngeal insufficiency
Giant platelets
Retinal vascular tortuosity
Paranoia
Duodenal stenosis
Right aortic arch
Mood swings
Underdeveloped nasal alae
Bifid uvula
Pectus carinatum
Alopecia
Abnormality of the coagulation cascade
Rickets
Abnormal intestine morphology
Spontaneous abortion
Chronic diarrhea
Inflammatory abnormality of the skin
Eczema
Lymphoma
Nevus
Abdominal distention
Infertility
Elevated hepatic transaminase
Arthralgia
Cyclic neutropenia
Steatorrhea
Internal hemorrhage
Arterial thrombosis
Gingival bleeding
Thromboembolism
Petechiae
Cerebral hemorrhage
Intracranial hemorrhage
Epistaxis
Abnormal blistering of the skin
Abnormal bleeding
Neutropenia
Bruising susceptibility
Falls
Skin rash
Malnutrition
Macrocytic anemia
Pulmonic stenosis
Increased bone density with cystic changes
Blepharophimosis
Aggressive behavior
Retrognathia
Hyperactivity
Absent speech
Hypoplasia of the corpus callosum
Broad 1st metacarpal
Hyperostosis frontalis interna
Elevated calcitonin
Abnormal platelet function
Band keratopathy
Spinal cord compression
Choreoathetosis
Cortical subperiosteal resorption of humeral metaphyses
Diaphyseal sclerosis
Iron deficiency anemia
Ectopic calcification
Hyperparathyroidism
Dyskinesia
Vitamin B12 deficiency
Vitamin K deficiency
Vitamin D deficiency
Folate deficiency
Abnormality of the abdominal wall
Prolonged prothrombin time
Recurrent aphthous stomatitis
Stomatitis
Prolonged partial thromboplastin time
Chronic fatigue
Thrombocytosis
Hepatosplenomegaly
Broad forehead
Abnormality of the kidney
Joint hyperflexibility
Foot polydactyly
Overfolded helix
Abnormality of the thorax
Hand polydactyly
Polycystic kidney dysplasia
Laryngomalacia
Abnormality of dental enamel
Aganglionic megacolon
Choanal atresia
Renal hypoplasia
Asthma
Long face
Arachnodactyly
Prominent nasal bridge
Turricephaly
Short philtrum
Telecanthus
Polyhydramnios
Narrow mouth
Glaucoma
Upslanted palpebral fissure
Microphthalmia
Long philtrum
Downslanted palpebral fissures
Intrauterine growth retardation
Low-set ears
Spinocerebellar tract disease in lower limbs
Flattened moderately deformed vertebrae
Synovial hypertrophy
Abnormal lung lobation
Multiple renal cysts
Abnormality of dental structure
Abnormal aortic arch morphology
Intellectual disability, moderate
Joint laxity
Hydronephrosis
Hypoglycemia
Pes planus
Micropenis
Severe short stature
Pneumonia
Clinodactyly
Dilatation
Occipital myelomeningocele
Abnormality of the tonsils
Tricuspid atresia
Multiple suture craniosynostosis
Hypertensive crisis
Abnormality of the skull
Retinal arteriolar tortuosity
Abnormal pulmonary valve morphology
Arrhinencephaly
Small earlobe
Abnormality of the pharynx
Abnormal aortic valve morphology
Abnormal thrombocyte morphology
Hypoplasia of the thymus
Corneal neovascularization
Abnormality of the uterus
Chronic obstructive pulmonary disease
Atelectasis
Varicose veins
Abnormal eyelid morphology
Progressive joint destruction
Antineutrophil antibody positivity
Corneal opacity
Bowing of the long bones
Bowing of the legs
Flat occiput
Heart murmur
Prominent supraorbital ridges
Increased intracranial pressure
Widely spaced teeth
Recurrent bacterial infections
Narrow palate
Low anterior hairline
Spastic gait
Limb ataxia
Amblyopia
Tall stature
Progressive neurologic deterioration
Neurodevelopmental delay
Depressed nasal ridge
Pancytopenia
Optic disc pallor
Delayed myelination
Gliosis
Progressive cerebellar ataxia
Macroglossia
Neurodegeneration
Thick eyebrow
Retinal degeneration
Genu valgum
Abnormality of the foot
Hypermetropia
Abnormality of the cerebral white matter
Open bite
Femoral bowing
Abnormality of joint mobility
Vacuolated lymphocytes
Abnormality of the ilium
Hypoplastic inferior ilia
Decreased pulmonary function
Generalized abnormality of skin
Increased hepatic glycogen content
Increased vertebral height
Spondylolysis
Oligosacchariduria
Synostosis of joints
Cerebral dysmyelination
Retinal thinning
Long ear
Abnormality of the gingiva
Cranial hyperostosis
Thoracolumbar kyphosis
Abnormality of the sternum
Synovitis
Abnormal cornea morphology
Abnormality of the rib cage
Craniofacial hyperostosis
Spondylolisthesis
Abnormality of the helix
Reduced ejection fraction
Hydrocele testis
Dysostosis multiplex
Impaired smooth pursuit
Severe sensorineural hearing impairment
Aseptic necrosis
Limb dystonia
Bronchitis
Prominent ear helix
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