Cognitive impairment, and Ulcerative colitis

Diseases related with Cognitive impairment and Ulcerative colitis

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Ulcerative colitis that can help you solving undiagnosed cases.


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Medium match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY


Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY Is also known as scar16|spinocerebellar ataxia autosomal recessive type 16

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY

Medium match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Low match PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR


X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).

PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR Is also known as xlpdr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

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Low match HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1


Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

Low match GLYCOGEN STORAGE DISEASE IA; GSD1A


Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

Low match ACROMESOMELIC DYSPLASIA, GREBE TYPE


Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, GREBE TYPE Is also known as fumaric aciduria|chondrodysplasia, grebe type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, GREBE TYPE

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

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 DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Top 5 symptoms//phenotypes associated to Cognitive impairment and Ulcerative colitis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Ulcerative colitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Inflammation of the large intestine Short stature Fever Anemia Enterocolitis Colitis Scoliosis Cleft palate Ventricular septal defect Hydrocephalus Diarrhea Inguinal hernia Arthritis Spina bifida Abnormal facial shape Renal insufficiency Thrombocytopenia Proteinuria Recurrent infections Brachydactyly Retrognathia Muscular hypotonia Arnold-Chiari malformation Myelomeningocele Purpura Micrognathia Strabismus Hemiparesis Rheumatoid arthritis Hemolytic anemia Hypertelorism Scarring Acne Abnormality of the pinna Cleft lip Umbilical hernia Abdominal pain Abnormal heart morphology Iris coloboma Patent ductus arteriosus Obesity Hernia Abnormality of cardiovascular system morphology Microphthalmia Blindness Papule Autoimmunity Truncus arteriosus High palate Glaucoma Pancreatitis Gait disturbance Hypothyroidism Cataract Hypoplasia of the corpus callosum Behavioral abnormality Alopecia Dysarthria Visual loss Ataxia

Rare Symptoms - Less than 30% cases


Cholelithiasis Dysphagia Subcutaneous nodule Hyperlipidemia Unilateral renal agenesis Nasal speech Abnormality of the middle ear Postaxial hand polydactyly Psoriasiform dermatitis Autoimmune hemolytic anemia Hypertriglyceridemia Bicuspid aortic valve Exotropia Autoimmune thrombocytopenia Posterior embryotoxon Bipolar affective disorder Cerebellar atrophy Uveitis Cleft upper lip Vitiligo Hypoparathyroidism Hematuria Hypotrichosis Meningocele Schizophrenia Multicystic kidney dysplasia Short ribs Vertebral fusion Nystagmus Hypoplasia of the brainstem Carcinoma Spasticity Relative macrocephaly Delayed speech and language development Short neck Atrial septal defect Lactic acidosis Immunodeficiency Hepatic failure Metabolic acidosis Posteriorly rotated ears Blepharophimosis Hypocalcemia Venous thrombosis Bulbous nose Bifid uvula Chorea Renal agenesis Specific learning disability Amenorrhea Tetralogy of Fallot Hyperreflexia Low posterior hairline Spina bifida occulta Primary amenorrhea Renal dysplasia Nephropathy Abnormality of skin pigmentation Hypertonia Hypertension Pain Abnormality of the skeletal system Optic atrophy Hyperpigmentation of the skin Memory impairment Low-set ears Ptosis Cryptorchidism Joint stiffness Visual impairment Failure to thrive Growth delay Frontal bossing Abnormality of the dentition Telecanthus Right aortic arch Impaired T cell function Duodenal stenosis Iridocyclitis Macrocephaly Retinal vascular tortuosity Sacral meningocele Right aortic arch with mirror image branching Conotruncal defect Aplasia of the thymus Arteria lusoria Generalized hypotonia Polymicrogyria Perimembranous ventricular septal defect Syndactyly Agenesis of corpus callosum Microtia Cough Coloboma Sparse hair Erythema Juvenile rheumatoid arthritis Seborrheic dermatitis Hydronephrosis Aplasia of the uterus Reduced visual acuity Weight loss Acidosis Photophobia Graves disease Polydactyly Recurrent respiratory infections Abnormality of metabolism/homeostasis Arachnodactyly Neurological speech impairment Interrupted aortic arch Curved fingers Arthralgia Cardiac rhabdomyoma Headache Myalgia Odontogenic keratocysts of the jaw Fatigue Fibroma Irregular ossification of hand bones Hamartomatous stomach polyps Hamartomatous polyposis Cervical ribs Developmental regression Ovarian fibroma Bifid ribs Dilatation Abnormality of the sense of smell Palmar pits Bridged sella turcica Histiocytoma Calcification of falx cerebri Plantar pits Splenomegaly Orbital cyst Irritability Dyspnea Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Parietal bossing Cardiac fibroma Vertebral wedging Short distal phalanx of the thumb Cerebral calcification Supernumerary ribs Open operculum Carious teeth Facial palsy EEG abnormality Coarse facial features Kyphoscoliosis Mandibular prognathia Proptosis Brachycephaly Pectus excavatum Downslanted palpebral fissures Wide nasal bridge Epicanthus Motor delay Aplasia of the middle phalanges of the toes Postaxial polydactyly Cutaneous leiomyoma Mitochondrial encephalopathy Choroid plexus cyst Aplasia/Hypoplasia involving the metacarpal bones Infantile encephalopathy Psychomotor deterioration Organic aciduria Short tibia Synostosis of carpal bones Fibular hypoplasia Polycythemia Aplasia/Hypoplasia of the thumb Tarsal synostosis Oral cleft Palmoplantar keratoderma Ectopic calcification Abnormality of the sternum Medulloblastoma Astrocytoma Brain neoplasm Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Skin tags Down-sloping shoulders Fragile nails Narrow nose Sprengel anomaly Thoracic scoliosis Agenesis of permanent teeth Nevus Long fingers Basal cell carcinoma Milia Disproportionate tall stature Melanocytic nevus Nephritis Glomerulonephritis Neoplasm of the skin Hemivertebrae Hypogonadotrophic hypogonadism Muscle stiffness Bradycardia Abnormality of the ribs Hypotension Retinopathy Superficial thrombophlebitis Abnormal pyramidal sign Abnormality of the ear Giant platelets Paranoia Mood swings Platybasia Pulmonary artery atresia Abnormality of the endocrine system Echolalia Pierre-Robin sequence Delusions Hearing abnormality Anal stenosis Submucous cleft hard palate Axonal loss Basal ganglia calcification Myopathic facies Psychotic episodes Obsessive-compulsive behavior Apathy Dysdiadochokinesis Abnormality of the hand Holoprosencephaly Narrow palpebral fissure Hallucinations Open mouth Psychosis Peripheral demyelination Underdeveloped nasal alae Vesicoureteral reflux Dysmetria Anal atresia Velopharyngeal insufficiency Central nervous system degeneration Congenital cataract Amblyopia Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Abnormality of the thymus Perisylvian polymicrogyria Alcoholism Femoral hernia Hypoplasia of the thymus Anterior segment developmental abnormality Tetany Sclerocornea Broad thumb Vascular ring Abnormality of the kidney Perineal fistula Congenital conductive hearing impairment Unilateral lung agenesis Unilateral primary pulmonary dysgenesis Flexion contracture Narrow mouth Craniosynostosis Short palpebral fissure Attention deficit hyperactivity disorder Short philtrum Generalized tonic-clonic seizures Astigmatism High, narrow palate Coarctation of aorta Pulmonic stenosis Mental deterioration Stroke Cranial nerve paralysis Gangrene Pulmonary infiltrates Pustule Aseptic necrosis Pulmonary embolism Hemoptysis Pericarditis Keratoconjunctivitis sicca Glomerulopathy Blurred vision Epiphora Pleural effusion Encephalitis Increased intracranial pressure Aortic regurgitation Myositis Chest pain Nausea and vomiting Malabsorption Paresthesia Confusion Lymphadenopathy Vertigo Migraine Vasculitis Gastrointestinal hemorrhage Abnormal blistering of the skin Myocardial infarction Mitral regurgitation Anorexia Meningitis Raynaud phenomenon Cerebral ischemia Aggressive behavior Retrobulbar optic neuritis Anxiety Conductive hearing impairment Hyperactivity Dementia Depressivity Hypospadias Absent speech Intellectual disability, severe Hypopyon Decreased level of D-mannose in urine Epididymitis Genital ulcers Panuveitis Orchitis Iritis Abnormal myocardium morphology Pleuritis Arterial thrombosis Recurrent aphthous stomatitis Stomatitis Alopecia areata Endocarditis Oral ulcer Thrombophlebitis Increased inflammatory response Erythema nodosum Immunologic hypersensitivity Chorioretinitis Optic neuritis Anterior uveitis Posterior uveitis Reduced subcutaneous adipose tissue Decreased muscle mass Abnormality of the coagulation cascade Ectopia lentis Recurrent skin infections Reduced number of teeth Dermal atrophy Short metatarsal Brittle hair Hand polydactyly Ectropion Renal hypoplasia/aplasia Chorioretinal coloboma Stridor Abnormality of dental morphology Anophthalmia Mild short stature Open bite Oligodontia Abnormality of dental enamel Hypermelanotic macule Telangiectasia Interphalangeal joint contracture of finger Renal hypoplasia Split hand Thin skin Omphalocele Hypoplasia of dental enamel Abnormality of epiphysis morphology Horseshoe kidney Short phalanx of finger Hoarse voice Abnormality of the nail Increased body weight Pointed chin Congenital hip dislocation Supernumerary nipple Short finger Overgrowth Abnormality of the larynx Diastasis recti Acute hepatic failure Duodenal atresia Hypoplastic pelvis Lower limb asymmetry Verrucae Labial hypoplasia Aplasia/Hypoplasia of the lungs Cholangitis Hypoplasia of teeth Anomalous pulmonary venous return Skin nodule Bifid nose Ureteral duplication Stenosis of the external auditory canal Hiatus hernia Mixed hearing impairment Hypoplastic nipples Macule Narrow nasal bridge Aplasia/Hypoplasia of the skin Abnormality of digit Telangiectasia of the skin Anteriorly placed anus Aplasia cutis congenita Split foot Facial cleft Ectrodactyly Oligodactyly Short clavicles Aniridia Foot polydactyly Hypoplasia of the iris Congenital diaphragmatic hernia Abnormality of the skin Abnormal cornea morphology External ophthalmoplegia Lower limb spasticity Limb ataxia Truncal ataxia Horizontal nystagmus Type I diabetes mellitus Oculomotor apraxia Adducted thumb Progressive cerebellar ataxia Postural tremor Sensory axonal neuropathy Gaze-evoked nystagmus Ankle clonus Hyperactive deep tendon reflexes Retinal atrophy Type II diabetes mellitus Postural instability Oligomenorrhea Diabetes mellitus Peripheral neuropathy Tremor Babinski sign Cerebellar hypoplasia Myoclonus Hypogonadism Gait ataxia Sensory neuropathy Difficulty walking Rigidity Ophthalmoplegia Infertility Unsteady gait Peripheral axonal neuropathy Distal amyotrophy Hand tremor Progeroid facial appearance Nail dysplasia Facial asymmetry Corneal opacity Finger syndactyly Nail dystrophy Pruritus Toe syndactyly Abnormality of the foot Delayed eruption of teeth Abnormal cardiac septum morphology Hypodontia Broad nasal tip Intestinal malrotation Ectodermal dysplasia Short metacarpal Dental malocclusion Camptodactyly of finger Camptodactyly Hypoplasia of the pons Abnormal involuntary eye movements Head tremor Corpus callosum atrophy Impaired proprioception Speech apraxia Saccadic smooth pursuit Delayed menarche Old-aged sensorineural hearing impairment Joint laxity Parietal cortical atrophy Abnormality of the sella turcica Abnormal motor evoked potentials Intrauterine growth retardation Clinodactyly Hyperhidrosis Gastroesophageal reflux Hand oligodactyly Abnormality of hair texture Sarcoma Gout Prolonged bleeding time Hyperuricemia Renal tubular acidosis Protuberant abdomen Hepatocellular carcinoma Enlarged kidney Xanthomatosis Portal hypertension Neoplasm of the liver Breathing dysregulation Fasting hypoglycemia Skeletal myopathy Pyelonephritis Hypoglycemic seizures Focal segmental glomerulosclerosis Glomerulosclerosis Xanthelasma Full cheeks Osteoporosis Osteopenia Hypoglycemia Elevated hepatic transaminase Delayed puberty Abnormal bleeding Hepatitis Elevated alkaline phosphatase Epistaxis Nephrolithiasis Nephrocalcinosis Atherosclerosis Chronic kidney disease Hypercalciuria Microalbuminuria Intermittent diarrhea Hepatomegaly Bowing of the long bones Abdominal distention Aciduria Generalized-onset seizure Intellectual disability, profound Status epilepticus Cholestasis Short toe Micromelia Hyperbilirubinemia Aminoaciduria Lissencephaly Hyperammonemia Disproportionate short-limb short stature Optic nerve hypoplasia Short foot Pallor Decreased glomerular filtration rate Hepatocellular adenoma Hepatoblastoma Chronic hepatitis Chronic pancreatitis Distal renal tubular acidosis Lipemia retinalis Doll-like facies Hypocitraturia Skeletal dysplasia Depressed nasal bridge Ventriculomegaly Anteverted nares Respiratory insufficiency Cerebral atrophy Encephalopathy Polyhydramnios Myopathy Decreased level of thrombomodulin Total anomalous pulmonary venous return Giant cell tumor of bone Abnormal adipose tissue morphology Bifid ureter Ectopia cordis Linear hyperpigmentation Cholesteatoma Apocrine hidrocystoma Midclavicular hypoplasia Nonproductive cough Midclavicular aplasia Dystonia Pneumonia Hyperkeratosis Respiratory tract infection Chronic diarrhea Abnormality of the pulmonary vasculature Osteopathia striata Hypohidrosis Absent fingernail Papilloma Inspiratory stridor Clitoral hypoplasia Absent toenail Rough bone trabeculation Foot oligodactyly Reticular hyperpigmentation Cleft ala nasi Upper limb asymmetry Patchy alopecia Absence of the sacrum Ridged fingernail Caudal appendage Abnormal palmar dermatoglyphics Abnormality of the mediastinum Bronchiectasis Recurrent pneumonia Decreased serum complement factor H Microangiopathic hemolytic anemia Reticulocytosis Elevated serum creatinine Hemolytic-uremic syndrome Complement deficiency Increased blood urea nitrogen Anuria Azotemia Abnormality of blood and blood-forming tissues Abnormal lactate dehydrogenase activity Schistocytosis Decreased serum complement C3 Decreased serum complement factor B Abnormality of complement system Decreased serum complement factor I Acute kidney injury Dysphasia Opacification of the corneal stroma Corneal scarring Corneal dystrophy Failure to thrive in infancy Hemiplegia Keratitis Amyloidosis Focal dystonia Broad eyebrow Coma Urethral stricture Recurrent infection of the gastrointestinal tract Cutaneous amyloidosis Generalized reticulate brown pigmentation Cardiomyopathy Edema Stage 5 chronic kidney disease Type I truncus arteriosus



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Paralysis, related diseases and genetic alterations Hepatomegaly and Dyspnea, related diseases and genetic alterations Low-set ears and Limb-girdle muscular dystrophy, related diseases and genetic alterations Cryptorchidism and Blepharophimosis, related diseases and genetic alterations

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