Hyperreflexia, and Glucose intolerance

Diseases related with Hyperreflexia and Glucose intolerance

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Glucose intolerance that can help you solving undiagnosed cases.

Top matches:

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS Is also known as lipodystrophy, partial, with congenital cataracts and neurodegeneration

Related symptoms:

  • Ataxia
  • Nystagmus
  • Micrognathia
  • Cataract
  • Babinski sign


SOURCES: OMIM MENDELIAN

More info about PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS

Medium match FRIEDREICH ATAXIA

Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Other less relevant matches:

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Medium match WILLIAMS SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about POLYENDOCRINE-POLYNEUROPATHY SYNDROME

HYPERLIPOPROTEINEMIA, TYPE I Is also known as lpl deficiency|hyperchylomicronemia, familial|lipase d deficiency|lipd deficiency|lipoprotein lipase deficiency|hyperlipemia, essential familial|chylomicronemia, familial|hyperlipemia, idiopathic, burger-grutz type|hyperlipoproteinemia, type ia

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Pain
  • Anemia
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about HYPERLIPOPROTEINEMIA, TYPE I

Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Top 5 symptoms//phenotypes associated to Hyperreflexia and Glucose intolerance

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Diabetes mellitus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Glucose intolerance. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Muscle weakness Hearing impairment Visual impairment Cataract Insulin resistance Scoliosis Global developmental delay Pain Dysarthria Depressivity Short stature Generalized hypotonia Congestive heart failure Hypothyroidism Myopathy Babinski sign Atrial fibrillation Seizures Feeding difficulties Arrhythmia Limb muscle weakness Dilated cardiomyopathy Hypogonadism Skeletal muscle atrophy Flexion contracture Hypertrophic cardiomyopathy Osteopenia Irritability Pes planus Hypertriglyceridemia Gait disturbance Fatigue Dysphagia Respiratory distress Pes cavus Areflexia Cardiomyopathy Spasticity Abnormality of the liver Nystagmus Lower limb muscle weakness Anemia Elevated hepatic transaminase Micrognathia Cryptorchidism Gait ataxia Retinopathy Dysmetria

Rare Symptoms - Less than 30% cases

Ventricular arrhythmia Gastroesophageal reflux Aplasia/Hypoplasia of the iris Abnormal cardiac septum morphology Incoordination Tetralogy of Fallot Nausea and vomiting EMG: myopathic abnormalities Recurrent urinary tract infections Left ventricular hypertrophy Muscular hypotonia Intellectual disability, moderate Macrotia Scarring Ketosis Renal agenesis Arthralgia Subvalvular aortic stenosis Sensory axonal neuropathy Impaired proprioception Gait imbalance Abnormal carotid artery morphology Joint laxity Abnormal glucose tolerance Anxiety Small for gestational age Abdominal pain Hepatomegaly Patent ductus arteriosus Strabismus Abnormal facial shape Cleft palate High palate Epicanthus Fever Microcephaly Intrauterine growth retardation Ophthalmoplegia Thrombocytopenia Facial palsy Atrial septal defect Renal insufficiency Tremor Abnormal heart morphology Osteoporosis Sensorineural hearing impairment Postnatal growth retardation Edema Involuntary movements Constipation Elevated serum creatine phosphokinase Abnormality of the kidney Umbilical hernia Clinodactyly of the 5th finger Narrow face Cognitive impairment Intellectual disability, mild Respiratory insufficiency Progressive muscle weakness Hypertonia Cerebellar hypoplasia Nocturia Clumsiness Cerebellar atrophy Malabsorption Acidosis Abnormal renal morphology Hyperinsulinemia Peripheral neuropathy Hyporeflexia Dystonia Infantile muscular hypotonia Kyphosis Palpitations Reduced bone mineral density Cerebral cortical atrophy Splenomegaly Kyphoscoliosis Abnormality of extrapyramidal motor function Cardiomegaly Abnormal pyramidal sign Paresthesia Increased serum lactate Exercise intolerance Ragged-red muscle fibers Exertional dyspnea Mitochondrial myopathy Lactic acidosis Congenital cataract Tracheoesophageal fistula Pigmentary retinopathy Progressive hearing impairment Thick lower lip vermilion Pancreatitis Hyperlipidemia Hypercholesterolemia Lipodystrophy Pallor Dysphonia Macroglossia Peripheral axonal neuropathy Skin rash Abnormality of the foot Sensory neuropathy Inability to walk Abnormality of nervous system morphology Type I diabetes mellitus Hypergonadotropic hypogonadism Hepatosplenomegaly Chest pain Vertigo Ventricular hypertrophy Abnormality of eye movement Hyperhidrosis Proximal muscle weakness Unilateral renal hypoplasia Flat cornea Renovascular hypertension Tubulointerstitial abnormality Paroxysmal bursts of laughter Abnormal social behavior Supravalvular aortic stenosis Overriding aorta Periorbital edema Myxomatous mitral valve degeneration Abnormality of the bladder Impaired visuospatial constructive cognition Obsessive-compulsive trait Aortic arch aneurysm Synostosis of joints Calcification of the aorta Arterial stenosis Abnormality of the ankles Hyperacusis Coronary artery stenosis Rectal prolapse Dysgraphia Renal artery stenosis Phonophobia Parathyroid hyperplasia Urethral stenosis Retinal arteriolar tortuosity Increased nuchal translucency Abnormality of the gastric mucosa Retinal vascular tortuosity Thyroid hypoplasia Abnormal endocardium morphology Pelvic kidney Renal duplication Colonic diverticula Food intolerance Vascular tortuosity Infantile hypercalcemia Peptic ulcer Multiple renal cysts Cystic renal dysplasia Abnormality of the voice Redundant skin Hypercalcemia Failure to thrive in infancy Radioulnar synostosis Precocious puberty Portal hypertension Nephritis Hypercalciuria Chronic otitis media Obsessive-compulsive behavior Unilateral renal agenesis Abnormality of dental morphology Hypoplastic toenails Polyuria Loss of consciousness Cholelithiasis Polycystic ovaries Hallux valgus Cutis laxa Pointed chin Hypogonadotrophic hypogonadism Hemivertebrae Nephrocalcinosis Abnormality of dental enamel Abnormality of the fingernails Spina bifida occulta Abnormal dermatoglyphics Abnormality of pelvic girdle bone morphology Widely spaced teeth Bicuspid aortic valve Sacral dimple Ischemic stroke Schizophrenia Arnold-Chiari malformation Adducted thumb Open bite Premature graying of hair Bladder diverticulum Enuresis Hypoplasia of the zygomatic bone Chronic constipation Right ventricular hypertrophy Tubulointerstitial nephritis Large earlobe Abnormality of the neck Abnormality of the cerebral vasculature Villous atrophy Vocal cord paralysis Dyslexia Cerebral ischemia Abnormality of refraction Periorbital fullness Decreased plasma carnitine Peripheral pulmonary artery stenosis Lacrimation abnormality Blue irides Down-sloping shoulders Vertebral segmentation defect Abnormality of lipid metabolism Celiac disease High hypermetropia Prematurely aged appearance Facial cleft Restlessness Insomnia Megalocornea Posterior embryotoxon Medial flaring of the eyebrow Arnold-Chiari type I malformation Nevus flammeus Soft skin Poor coordination Pulmonary artery stenosis Abnormality of the vasculature Patellar dislocation Abnormality of the diencephalon Multiple mitochondrial DNA deletions Elfin facies Adipose tissue loss Hypochromic anemia Erythema nodosum Panniculitis Episcleritis Stiff skin Finger swelling Rigidity Generalized lipodystrophy Myalgia Lethargy Coma Muscle cramps Parkinsonism Migraine Amenorrhea Flexion contracture of toe Immune dysregulation Primary amenorrhea Increased antibody level in blood Hyperpigmentation of the skin Bone pain Lymphopenia Elbow flexion contracture Conjunctivitis Growth abnormality Long fingers Clubbing of fingers Hypermelanotic macule Elevated erythrocyte sedimentation rate Microcytic anemia Basal ganglia calcification Rimmed vacuoles Myositis Abnormally large globe Bradykinesia Frequent falls Lymphadenopathy Abnormality of the mitochondrion Hypomimic face Shoulder girdle muscle weakness Reduced ejection fraction Absent Achilles reflex Subsarcolemmal accumulations of abnormally shaped mitochondria Skeletal myopathy Testicular atrophy Progressive external ophthalmoplegia Parkinsonism with favorable response to dopaminergic medication Cogwheel rigidity Gastroparesis Muscle fiber necrosis Acute rhabdomyolysis Cytochrome C oxidase-negative muscle fibers Impaired distal vibration sensation Facial diplegia Bipolar affective disorder Cerebral visual impairment Increased variability in muscle fiber diameter Sensorimotor neuropathy External ophthalmoplegia Goiter Easy fatigability Premature ovarian insufficiency Abnormality of mitochondrial metabolism Ophthalmoparesis Difficulty climbing stairs Gonadal dysgenesis Hypokinesia Resting tremor Rhabdomyolysis Secondary amenorrhea Hyperthyroidism Quadriceps muscle weakness Progressive ophthalmoplegia Prominent nose Camptodactyly of finger Bilateral vocal cord paralysis Peripheral arterial stenosis Abdominal distention Memory impairment Atherosclerosis Back pain Steatorrhea Episodic abdominal pain Acanthocytosis Nausea Peritonitis Foam cells Precocious atherosclerosis Hypocholesterolemia Hyperlipoproteinemia Chills Acute pancreatitis Hepatic steatosis Jaundice Intestinal bleeding Descending aorta hypoplasia Thyroid hemiagenesis Nystagmus-induced head nodding Overfriendliness Early onset of sexual maturation Dyssynergia Stellate iris Functional abnormality of male internal genitalia Vocal cord dysfunction Dementia Atrophy/Degeneration involving the corticospinal tracts Motor delay Hypoglycemia Polyneuropathy Central hypothyroidism Vomiting Diarrhea Hypersplenism Chronic pancreatitis Erythema Difficulty running Hyperglycemia Multiple joint contractures Bulbar palsy Glycosuria Weak cry Centrally nucleated skeletal muscle fibers Insulin-resistant diabetes mellitus Congenital hip dislocation Nemaline bodies Limb joint contracture Spinal deformities Postprandial hyperglycemia Type 1 fibers relatively smaller than type 2 fibers Recurrent infections Arthritis Respiratory insufficiency due to muscle weakness Lumbar hyperlordosis Eruptive xanthomas Lactescent serum Recurrent pancreatitis Lipemia retinalis Impaired distal proprioception Increased circulating chylomicron concentration Pancreatic calcification Increased hepatocellular lipid droplets Abnormality of vitamin metabolism Respiratory failure Decreased fetal movement Neonatal hypotonia Muscular hypotonia of the trunk Muscular dystrophy Long face Hirsutism Generalized muscle weakness Waddling gait Increased body weight Autism Increased bone mineral density Structural foot deformity Decreased pyruvate carboxylase activity Abnormality of the dentate nucleus Temporal optic disc pallor Palmar hyperhidrosis Spinal cord posterior columns myelin loss Abolished vibration sense Impaired visually enhanced vestibulo-ocular reflex Cervical spinal cord atrophy Atrophic superior cerebellar peduncle Hypertelorism Neoplasm Frontal bossing Abnormality of the skeletal system Ventriculomegaly Mitochondrial malic enzyme reduced Muscular subvalvular aortic stenosis Microphthalmia Decreased sensory nerve conduction velocity Positive Romberg sign Abnormality of cardiovascular system physiology Abnormal saccadic eye movements Sinus tachycardia Hand muscle atrophy Reduced systolic function Diabetic ketoacidosis Decreased amplitude of sensory action potentials Concentric hypertrophic cardiomyopathy Cerebellar cortical atrophy Upper limb amyotrophy Incomprehensible speech Abnormality of the autonomic nervous system Hemifacial hypertrophy Hydrocephalus Headache Abnormal echocardiogram Abnormality of the genital system Lymphoma Sloping forehead Oligohydramnios Pancytopenia Short palpebral fissure Choanal atresia Aganglionic megacolon Neutropenia Telangiectasia Cafe-au-lait spot Short thumb Abnormal vertebral morphology Spina bifida Bone marrow hypocellularity Hypopigmentation of the skin Bruising susceptibility Abnormality of cardiovascular system morphology Abnormality of the eye Hypospadias Severe short stature Upslanted palpebral fissure Weight loss Proptosis Carcinoma Leukemia Abnormality of skin pigmentation Finger syndactyly Hip dislocation Dolichocephaly Toe syndactyly Facial asymmetry Anal atresia Astigmatism Lower limb amyotrophy Poor fine motor coordination Leukopenia Visual loss Absence of subcutaneous fat Loss of subcutaneous adipose tissue in limbs Lack of facial subcutaneous fat Decreased adipose tissue around neck Optic atrophy Talipes equinovarus Hyperactivity Brisk reflexes Reduced visual acuity Difficulty walking Abnormality of movement Unsteady gait Tachycardia Falls Orthostatic hypotension Acanthosis nigricans Abnormal cerebellum morphology Delayed myelination Narrow mouth Dyspnea Poor speech Cirrhosis Triangular face Brain atrophy Blue sclerae Clonus Gastrointestinal dysmotility Abnormal activity of mitochondrial respiratory chain Rod-cone dystrophy Distal sensory impairment Hypotension Epidermal acanthosis Abnormality of the face Neurodegeneration Progressive cerebellar ataxia T-wave inversion Urinary bladder sphincter dysfunction Hyperactive deep tendon reflexes Optic neuropathy Thoracic scoliosis Abnormal EKG Abnormality of visual evoked potentials Heart block Ketoacidosis Decreased motor nerve conduction velocity Increased reactive oxygen species production Myocardial fibrosis Areflexia of lower limbs Hyposmia Spinocerebellar tract degeneration Asymmetric septal hypertrophy Visual field defect Hammertoe Chorea Spastic gait Sensory impairment Peripheral demyelination Optic disc pallor Intention tremor Lower limb spasticity Limb ataxia Truncal ataxia Impaired vibratory sensation Muscle stiffness Paraparesis Spastic paraparesis Reduced tendon reflexes Slurred speech Cachexia Dysdiadochokinesis Horseshoe kidney Azoospermia Hoarse voice Attention deficit hyperactivity disorder Autistic behavior Paralysis Joint stiffness Wide mouth Craniosynostosis Blepharophimosis Stroke Hyperlordosis Broad forehead Corneal opacity Neurological speech impairment Pulmonic stenosis Carious teeth Genu valgum Protruding ear Developmental regression Smooth philtrum Recurrent respiratory infections Absent speech Hernia Obesity Pectus excavatum Inguinal hernia Delayed skeletal maturation Glaucoma Feeding difficulties in infancy Micropenis High forehead Coarse facial features Proteinuria Cleft lip Low-set, posteriorly rotated ears Joint hyperflexibility Oral cleft Malar flattening Recurrent otitis media Hypsarrhythmia Type II diabetes mellitus Renal hypoplasia Small nail Myocardial infarction Hemiparesis Open mouth Hypoplasia of penis Mitral regurgitation Abnormal form of the vertebral bodies Nephrolithiasis Amblyopia Gingival overgrowth Aortic valve stenosis Coarctation of aorta Mitral valve prolapse Thick vermilion border Sudden cardiac death Everted lower lip vermilion Sleep disturbance Postural instability Hypodontia Broad nasal tip Full cheeks Vesicoureteral reflux Hypotelorism Dental malocclusion Esotropia Otitis media Microdontia Dehydration Abnormality of the cardiovascular system Narrow forehead Midface retrusion Long philtrum Cranial nerve paralysis Abnormality of the upper limb Hearing abnormality Chromosome breakage Abnormal eyelid morphology Abnormality of the ulna Arteriovenous malformation B-cell lymphoma Aplastic anemia Irregular hyperpigmentation Abnormality of the uterus Abnormality of the testis Abnormality of the thumb Bicornuate uterus Abnormality of femur morphology Acute monocytic leukemia External ear malformation Aplasia/Hypoplasia of the radius Abnormal aortic valve morphology Hypoplasia of the ulna Renal hypoplasia/aplasia Hypopigmented skin patches Abnormality of vision Abnormality of the urinary system Myelodysplasia Triphalangeal thumb Squamous cell carcinoma Absent radius Ectopic kidney Hydroureter Absent thumb Myeloid leukemia Multiple cafe-au-lait spots Acute myeloid leukemia Abnormality of blood and blood-forming tissues Abnormality of the hypothalamus-pituitary axis Abnormal localization of kidney Short nose Depressed nasal bridge Neoplasm of head and neck Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of fingers Pyridoxine-responsive sideroblastic anemia Abnormality of the preputium Delayed speech and language development Hypertension Anemic pallor Wide nasal bridge Myopia Macrocephaly Ventricular septal defect Abnormality of the dentition Behavioral abnormality Deficient excision of UV-induced pyrimidine dimers in DNA Prolonged G2 phase of cell cycle Abnormality of chromosome stability Low-grade fever Reticulocytopenia Abnormal aortic morphology Primary hypothyroidism Duodenal stenosis Duplicated collecting system Meckel diverticulum Complete duplication of thumb phalanx Almond-shaped palpebral fissure Partial duplication of thumb phalanx Clubbing of toes Decreased fertility in males Chromosomal breakage induced by crosslinking agents Hypoplastic anemia Absent testis Compensated hypothyroidism Focal white matter lesions


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