Cognitive impairment, and Recurrent urinary tract infections

Diseases related with Cognitive impairment and Recurrent urinary tract infections

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


Top matches:

Low match PRUNE BELLY SYNDROME


Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.

PRUNE BELLY SYNDROME Is also known as abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism|abdominal muscle deficiency syndrome|eagle-barret syndrome|eagle-barrett syndrome|triad syndrome|egbrs|obrinsky syndrome

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Cryptorchidism
  • Cognitive impairment
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRUNE BELLY SYNDROME

Low match WOLFRAM SYNDROME


Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM SYNDROME

Low match X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Mendelian

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

Learn more

Other less relevant matches:

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Low match CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1


Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

Low match TRICHORHINOPHALANGEAL SYNDROME TYPE 2


Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

TRICHORHINOPHALANGEAL SYNDROME TYPE 2 Is also known as langer-giedion syndrome|deletion 8q24.1|chromosome 8q24.1 deletion syndrome|lgs|monosomy 8q24.1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 2

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Low match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Low match PHELAN-MCDERMID SYNDROME; PHMDS


Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Recurrent urinary tract infections

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cognitive impairment and Recurrent urinary tract infections. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Short stature Hearing impairment Delayed speech and language development Renal insufficiency Depressivity Pneumonia Chronic diarrhea Wide nasal bridge Nephropathy Feeding difficulties Anemia Nystagmus Macrotia Short neck Growth delay Failure to thrive Scoliosis Constipation Vesicoureteral reflux Recurrent respiratory infections Feeding difficulties in infancy Otitis media Sensorineural hearing impairment Hyporeflexia Retinopathy Behavioral abnormality Dementia Weight loss Rod-cone dystrophy Patent ductus arteriosus Irritability Deeply set eye Sinusitis Polydactyly Malabsorption Delayed puberty Sleep disturbance Abnormality of the dentition Thrombocytopenia Muscular hypotonia Abnormal facial shape Generalized hypotonia Immunodeficiency Diarrhea Hydronephrosis Long philtrum Hepatitis Talipes equinovarus Micrognathia Retinal degeneration Pain Depressed nasal bridge Cleft palate Telangiectasia High palate Dilatation Visual impairment Cataract Recurrent pneumonia

Rare Symptoms - Less than 30% cases


Carious teeth Muscle weakness Retrognathia Full cheeks Dolichocephaly Hepatic failure Accelerated skeletal maturation Upslanted palpebral fissure Hyperactivity Gastroesophageal reflux Respiratory failure Hypoplasia of the corpus callosum Pes planus Intellectual disability, moderate Hyperhidrosis Kyphosis Autistic behavior Respiratory distress Hypermetropia Malar flattening Clinodactyly Low-set ears Mental deterioration Dyspnea Kyphoscoliosis Recurrent bronchitis Deep philtrum Intellectual disability, severe Hemolytic anemia Attention deficit hyperactivity disorder Renal cyst Brachydactyly Round face Pulmonary arterial hypertension Hypertension Congestive heart failure Hepatic fibrosis Proteinuria Smooth philtrum Unsteady gait Abnormality of skin pigmentation Hepatic steatosis Urinary incontinence Pigmentary retinopathy Broad-based gait Cone-shaped epiphyses of the phalanges of the hand Anorexia Abnormality of retinal pigmentation Atherosclerosis Epicanthus Hepatomegaly Visual loss Umbilical hernia Abnormality of the kidney Scarring Renal dysplasia Stage 5 chronic kidney disease Oligospermia Increased number of teeth Cyanosis Joint hypermobility Hypohidrosis Disproportionate tall stature Acute kidney injury Retinal dystrophy Ventriculomegaly Autism Conductive hearing impairment Low-set, posteriorly rotated ears Obesity Sparse hair Bulbous nose Cone-shaped epiphysis Thick eyebrow Vomiting Growth hormone deficiency Sparse scalp hair Exotropia Motor delay Strabismus Pyelonephritis Abnormal retinal morphology Gynecomastia Recurrent upper respiratory tract infections Protruding ear High forehead Hypogonadism Cryptorchidism Multicystic kidney dysplasia Dilatation of the bladder Cutis laxa Atrial septal defect Chronic otitis media Abnormality of the urinary system Ventricular septal defect Urethral obstruction Male hypogonadism Central apnea Prune belly Polydipsia Neoplasm Fever Hydroureter Recurrent skin infections Fatigue Recurrent infections Urethral stenosis Encephalopathy Lymphopenia Alopecia Arthritis Diabetes insipidus Neutropenia Ophthalmoplegia Ascites Decreased testicular size Joint stiffness Cor pulmonale Optic atrophy Peripheral neuropathy Bronchitis Cellulitis Cerebral cortical atrophy Anal atresia Myelopathy Gastrointestinal hemorrhage Diabetes mellitus Cardiomyopathy Myopathy Hip dislocation Abdominal distention Hypogonadotrophic hypogonadism Cough Nyctalopia Abnormality of the liver Dilated cardiomyopathy Pallor Short toe Respiratory tract infection Postnatal growth retardation Myalgia Generalized tonic-clonic seizures Absence seizures Elevated hepatic transaminase Photophobia Jaundice Hepatosplenomegaly Hypothyroidism Hyperkeratosis Nephrocalcinosis Lymphadenopathy Hypotrichosis Epidermal acanthosis Hypergonadotropic hypogonadism Hyperpigmentation of the skin Decreased liver function Insulin resistance Thickened skin Horizontal nystagmus Left ventricular hypertrophy Involuntary movements Increased body weight Recurrent otitis media Hypertriglyceridemia Abdominal pain Pulmonic stenosis Generalized hirsutism Cardiomegaly Optic disc pallor Specific learning disability Progressive visual loss Asthma Hirsutism Tachycardia Cirrhosis Nausea Dry skin Infertility Type II diabetes mellitus Enteroviral hepatitis Myoclonus Pectus excavatum Abnormal heart morphology EEG abnormality Neonatal hypotonia Anxiety Aggressive behavior Abnormality of the pinna Nausea and vomiting Agenesis of corpus callosum Facial asymmetry Thick vermilion border High, narrow palate Dental malocclusion Abnormality of the genital system Long eyelashes Pectus carinatum Clinodactyly of the 5th finger Tall stature Aplasia of the middle phalanx of the hand Congenital hepatic fibrosis Pancreatic cysts Hypoplasia of the capital femoral epiphysis Intestinal malrotation Accessory oral frenulum Frontal upsweep of hair Short proximal phalanx of finger Absent speech Absence of renal corticomedullary differentiation Ptosis Macrocephaly Gait disturbance Intellectual disability, mild Headache Midface retrusion Nephrolithiasis Dental crowding Splenomegaly Cerebellar cortical atrophy Heat intolerance Concave nasal ridge Delayed CNS myelination Periorbital fullness Episodic vomiting Toenail dysplasia Macular degeneration Arachnoid cyst Tongue thrusting Fulminant hepatic failure Hair-pulling Recurrent pyelonephritis Blindness Dystonia Bruxism Abnormality of the periventricular white matter Lymphedema Poor head control Cerebral visual impairment Pointed chin Short chin Sacral dimple Abnormality of the outer ear Increased intracranial pressure Prominent supraorbital ridges Palpebral edema Polycystic kidney dysplasia Large hands Hypoplastic toenails 2-3 toe syndactyly Weak cry Poor eye contact Impaired pain sensation Hyperorality Abnormality of the hand Acanthosis nigricans Decreased glomerular filtration rate Increased total bilirubin Frontal balding Hematemesis Melena First degree atrioventricular block Abnormality of the optic disc Abnormal spermatogenesis Bull's eye maculopathy Chronic infection Abnormality of the urethra Lumbar scoliosis Abnormality of dental color Epigastric pain Abnormal chorioretinal morphology Vertical nystagmus Multinodular goiter Impaired temperature sensation Elevated C-reactive protein level Retinal pigment epithelial atrophy Disinhibition Abnormal renal physiology Abnormal left ventricle morphology Testicular atrophy Tubulointerstitial fibrosis Arteriosclerosis Abnormality of female external genitalia Urinary retention Poor fine motor coordination Chills Acute pancreatitis Achromatopsia Hepatic encephalopathy Urethral stricture Female hypogonadism Abnormal renal morphology Widely-spaced incisors Receptive language delay Granular macular appearance Thickened ears Unilateral breast hypoplasia Glue ear Recurrent cystitis Abnormal retinal artery morphology Chronic active hepatitis Precocious puberty in females EEG with occipital slowing Abnormality of prothrombin Abnormality of renal calyx morphology Localized hirsutism Vitreous haze Hyperostosis frontalis interna Abnormal adipose tissue morphology Abnormal muscle tone Chronic hepatic failure Albuminuria Renovascular hypertension Squared iliac bones Abnormality of the pituitary gland Hypoplastic male external genitalia Hepatic necrosis Facial hirsutism Nonproductive cough ST segment depression Multifocal atrial tachycardia Childhood-onset truncal obesity High-frequency sensorineural hearing impairment Increased circulating androgen level Exudative retinopathy Endocardial fibroelastosis Menstrual irregularities Hyperlipidemia Pulmonary fibrosis Acne Hyperostosis Hyperglycemia Glucose intolerance Polyuria Emphysema Urinary urgency Constriction of peripheral visual field Truncal obesity Pericardial effusion Chorioretinal atrophy Polyphagia Short finger Agenesis of permanent teeth Impaired vibratory sensation Aplasia/Hypoplasia of the cerebellum Glomerulopathy Thoracic dysplasia Pancreatitis Hypercholesterolemia Tachypnea Cone/cone-rod dystrophy Goiter Polycystic ovaries Cholelithiasis Obsessive-compulsive behavior Elevated alkaline phosphatase Precocious puberty Hyperinsulinemia Lipodystrophy Portal hypertension Nephritis Progressive sensorineural hearing impairment Glycosuria Decreased HDL cholesterol concentration Myocarditis Tubulointerstitial nephritis Attenuation of retinal blood vessels Right ventricular hypertrophy Elevated serum creatinine Acute hepatic failure Tubular atrophy Myocardial fibrosis Gingivitis Chronic fatigue Chronic obstructive pulmonary disease Esophageal varix Restrictive cardiomyopathy High-frequency hearing impairment Ovarian cyst Pendular nystagmus Ketoacidosis Hyperuricemia Insulin-resistant diabetes mellitus Subcapsular cataract Pericarditis Thoracic scoliosis Autoimmune thrombocytopenia Severe sensorineural hearing impairment Hypoventilation Retinal atrophy Broad foot Peripheral visual field loss Alopecia of scalp Hyperventilation Poor coordination Oligomenorrhea Posterior subcapsular cataract Cholangitis Oligohydramnios Recurrent lower respiratory tract infections Narrow mouth Limitation of joint mobility Sudden cardiac death Tapered finger Highly arched eyebrow Wide nose Short palm Falls Blepharophimosis Apnea Camptodactyly Facial palsy Polyhydramnios Mandibular prognathia Autoimmunity Skin rash Abnormality of mesentery morphology Sepsis Decreased antibody level in blood Abnormal lung morphology Short nose Skin ulcer Hypertonia Meningitis Hypocalcemia Anteverted nares Recurrent bacterial infections Conjunctivitis Hypopigmented skin patches Flexion contracture Spasticity Underdeveloped nasal alae Dehydration Progressive vitiligo Velopharyngeal insufficiency Abnormality of cardiovascular system morphology Syndactyly Hallucinations Abnormality of the skeletal system Abnormal autonomic nervous system physiology Dysuria Cold-induced sweating Facial tics Smooth tongue Hypernatremic dehydration Bilateral camptodactyly Unexplained fevers Hypopnea Temperature instability Large face Generalized-onset seizure Trismus Narrow nose Malignant hyperthermia Episodic fever Limited elbow extension Opisthotonus Overlapping toe Keratitis Radial deviation of finger Nasal speech Adducted thumb Elbow flexion contracture Gastric ulcer Interphalangeal joint contracture of finger Encephalitis Mastoiditis Thin upper lip vermilion Prominent nasal bridge Abnormality of the face Choanal atresia Primary amenorrhea Cutaneous photosensitivity Sloping forehead Amenorrhea Convex nasal ridge Prominent nose Lymphoma Neurodegeneration Osteomyelitis Cleft upper lip Leukemia Small for gestational age Glossoptosis Cafe-au-lait spot Abnormality of the nervous system Agammaglobulinemia Abnormality of the lymphatic system Thymoma Hypospadias Pyoderma Skeletal muscle atrophy Intrauterine growth retardation Recurrent cutaneous abscess formation Septic arthritis Abnormality of the tonsils Epididymitis Prostatitis Lymph node hypoplasia Bronchiectasis Abnormality of the hair Malar prominence B-cell lymphoma Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections Rheumatoid arthritis Low anterior hairline Freckling Cachexia Premature ovarian insufficiency Abnormality of neuronal migration Combined immunodeficiency Non-midline cleft lip Long nose Abnormality of the musculature Abnormal eyelid morphology Autoimmune hemolytic anemia Neuroblastoma Anal stenosis Acute lymphoblastic leukemia Hearing abnormality Acute leukemia Delayed skeletal maturation Developmental regression Scaphocephaly Chronic hemolytic anemia Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Abnormality of macular pigmentation Methylmalonic acidemia Bilateral cryptorchidism Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Homocystinuria Methylmalonic aciduria Megaloblastic anemia Thromboembolism Apathy Ectopia lentis Hemiplegia Slurred speech Vertebral segmentation defect Decreased fertility Hypertelorism Frontal bossing Xerostomia Bifid uvula Prominent metopic ridge Abnormality of the skin Nephronophthisis Short thorax Short femoral neck Trigonocephaly Widely spaced teeth Short ribs Wide anterior fontanel Short phalanx of finger Tetralogy of Fallot Cholestasis Narrow forehead Microdontia Macroglossia Hernia Craniosynostosis Posteriorly rotated ears Prominent forehead Skeletal dysplasia Cleft lip Hemivertebrae Wide mouth Congenital hip dislocation Enteroviral dermatomyositis syndrome Epistaxis Oral cleft Short distal phalanx of finger Postaxial polydactyly Abnormality of the ribs Delayed eruption of teeth Abnormality of the ureter Psychosis Joint laxity Abnormal palate morphology Absent toe Hydrometrocolpos Multiple exostoses Thick nasal alae Vaginal atresia Avascular necrosis of the capital femoral epiphysis Fragile nails Spinal cord compression Fetal ascites Exostoses Congenital posterior urethral valve Preaxial polydactyly Redundant skin Aplasia of the abdominal wall musculature Scapular winging Mild postnatal growth retardation Joint dislocation Bilateral single transverse palmar creases Aplasia of the musculature Bone pain Dysarthria Hip dysplasia Ectodermal dysplasia Nevus Talipes Joint hyperflexibility Genu valgum Finger syndactyly Stroke Glaucoma Aplasia/Hypoplasia of the mandible Persistent cloaca Pancytopenia Urogenital sinus anomaly Abnormality of extrapyramidal motor function Aplasia/Hypoplasia of the lungs Memory impairment Aciduria 11 pairs of ribs Metabolic acidosis Abnormality of the uterus Hematuria Long face Volvulus Miosis Paresthesia Intestinal atresia Confusion Lower limb muscle weakness Rib exostoses Hydrocephalus Scapular exostoses Multiple long-bone exostoses Redundant skin in infancy Megacystis Abnormality of the bladder Tremor Abdominal wall defect Congenital cataract Gait ataxia Reduced visual acuity Acidosis Cervical ribs Difficulty walking Lethargy Abnormality of the femoral head



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Tremor and Cerebellar vermis hypoplasia, related diseases and genetic alterations Epicanthus and Delayed eruption of teeth, related diseases and genetic alterations Low-set ears and Neoplasm of the skin, related diseases and genetic alterations Immunodeficiency and Pneumonia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more