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:

Medium match THROMBOCYTOPENIA, CYCLIC


Related symptoms:

  • Anemia
  • Fatigue
  • Thrombocytopenia
  • Depressivity
  • Anxiety


SOURCES: OMIM MENDELIAN

More info about THROMBOCYTOPENIA, CYCLIC

Low match CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1


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

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1B


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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1C


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

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1A


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

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

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 22Q11.2 DELETION SYNDROME


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

Low match KABUKI SYNDROME 1; KABUK1


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

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

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
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Spastic tetraplegia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more