Ataxia, and Umbilical hernia

Diseases related with Ataxia and Umbilical hernia

In the following list you will find some of the most common rare diseases related to Ataxia and Umbilical hernia that can help you solving undiagnosed cases.


Top matches:

Medium match HEREDITARY HYPEREKPLEXIA


Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia|familial startle disease|kok disease|startle disease, familial|stiff baby syndrome|exaggerated startle reaction|sthe|congenital stiff man syndrome|stiff-baby syndrome|stiff-person syndrome, congenital|startle reaction, exaggerated

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY HYPEREKPLEXIA

Medium match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Medium match WRINKLY SKIN SYNDROME


Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).

WRINKLY SKIN SYNDROME Is also known as wrinkled skin syndrome|wss

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WRINKLY SKIN SYNDROME

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Medium match ACROCALLOSAL SYNDROME; ACLS


The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet (Schinzel and Schmid, 1980). It is considered a ciliopathy (Putoux et al., 2011).Joubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.Hydrolethalus-2 (HLS2 ) is an allelic disorder with a more severe phenotype and death in utero.

ACROCALLOSAL SYNDROME; ACLS Is also known as hallux duplication, postaxial polydactyly, and absence of corpus callosum|schinzel acrocallosal syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME; ACLS

Medium 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

Medium match MUCOLIPIDOSIS TYPE II


Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.

MUCOLIPIDOSIS TYPE II Is also known as i-cell disease|ml ii|mucolipidosis ii|n-acetylglucosamine 1-phosphotransferase deficiency|mucolipidosis type ii alpha/beta|ml ii alpha/beta|icd

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUCOLIPIDOSIS TYPE II

Medium match OCULODENTODIGITAL DYSPLASIA


Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

Medium 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

Medium 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

Medium match GAUCHER DISEASE TYPE 2


Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Top 5 symptoms//phenotypes associated to Ataxia and Umbilical hernia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Inguinal hernia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Umbilical hernia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hepatomegaly Hypertelorism Growth delay Failure to thrive Cataract High palate Strabismus Muscular hypotonia Kyphosis Cognitive impairment Abnormality of the dentition Long philtrum Hearing impairment Short stature Osteopenia Scoliosis Wide nasal bridge Nystagmus Spasticity Hip dislocation Syndactyly Gait disturbance Cerebellar atrophy Congestive heart failure Apnea Hypospadias Arrhythmia Abnormality of the pinna High forehead Depressed nasal bridge Retrognathia Retinal degeneration Polydactyly Macroglossia Anemia Hyperreflexia Wide anterior fontanel Heart murmur Bifid uvula Smooth philtrum Abnormality of the skeletal system Microdontia Anxiety Short neck Anteverted nares Recurrent respiratory infections Intellectual disability, severe Talipes equinovarus Cleft palate Brachydactyly Optic atrophy Frontal bossing Ventricular septal defect Congenital hip dislocation Prominent forehead Hypoplasia of the corpus callosum Motor delay Delayed speech and language development Abnormality of cardiovascular system morphology Encephalopathy Cryptorchidism Low-set ears Depressivity Fever Posteriorly rotated ears Intrauterine growth retardation Splenomegaly

Rare Symptoms - Less than 30% cases


Visual impairment Visual loss Pneumonia Micrognathia Basal ganglia calcification Hydrocephalus Broad forehead Sensorineural hearing impairment Macrocephaly Ventriculomegaly Short nose Cerebral atrophy Clinodactyly Abnormal heart morphology Clinodactyly of the 5th finger Hypothyroidism Finger syndactyly Diastasis recti Toe syndactyly Anal atresia Cleft upper lip Postaxial polydactyly Retinal dystrophy Wide intermamillary distance Open mouth Preaxial polydactyly Preaxial hand polydactyly Severe global developmental delay Skeletal dysplasia Immunodeficiency Hallucinations Dysarthria Myopia Atrial septal defect Edema Arthritis Mental deterioration Mandibular prognathia Dysmetria Peripheral demyelination Psychosis Hypoparathyroidism Broad alveolar ridges Hypocalcemia Purpura Hypoglycemia Conductive hearing impairment Blepharophimosis Abnormality of the cerebral white matter Underdeveloped nasal alae Delusions Bilateral ptosis Abnormality of the ear Muscle weakness Abnormality of the rib cage Upslanted palpebral fissure Progressive neurologic deterioration Recurrent infections Thrombocytopenia Dementia Cranial hyperostosis Cholelithiasis Narrow forehead Cholestasis Renal dysplasia Widely spaced teeth Blindness Coarse facial features Dysostosis multiplex Respiratory tract infection Brain atrophy Pancytopenia Thickened skin Gingival overgrowth Abnormality of the thorax Corneal opacity Thickened calvaria Hepatosplenomegaly Protuberant abdomen Delayed skeletal maturation Hip dysplasia Behavioral abnormality Abnormal pulmonary valve morphology Nasal speech Fragile nails Aplasia/Hypoplasia of the corpus callosum Dandy-Walker malformation Flexion contracture Aspiration Hypertrophic cardiomyopathy Hypertension Neonatal hypotonia Microretrognathia Cutis laxa Delayed eruption of teeth Respiratory insufficiency Progressive cerebellar ataxia Downslanted palpebral fissures Progressive microcephaly Cardiomyopathy Flat occiput Intellectual disability, moderate Hyperammonemia Pulmonary arterial hypertension Postnatal growth retardation Fatigue Hypertonia Kyphoscoliosis Myoclonus Gastroesophageal reflux Flat face Rigidity Joint stiffness Joint laxity Hypokinesia Sparse hair Carious teeth Abnormality of the kidney Short philtrum Camptodactyly of finger Wide mouth Axial dystonia Impaired T cell function Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Histiocytosis Platybasia Abnormal pattern of respiration Perimembranous ventricular septal defect Right aortic arch Interrupted aortic arch Hemophagocytosis Graves disease Abducens palsy Mood swings Eclabion Abnormality of the skin Velopharyngeal insufficiency Intellectual disability, mild Genu valgum Avascular necrosis of the capital femoral epiphysis Restrictive deficit on pulmonary function testing Abnormality of the foot Hypermetropia Neurological speech impairment Pectus carinatum Macrotia Gait ataxia Babinski sign Areflexia Midface retrusion Malar flattening Myopathy Conotruncal defect Skeletal muscle atrophy Pain Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Congenital conductive hearing impairment Generalized osteosclerosis Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Psychotic episodes Right aortic arch with mirror image branching Abnormality of the endocrine system Subcutaneous hemorrhage Amenorrhea Orthopnea Bicuspid aortic valve Holoprosencephaly CSF pleocytosis Narrow palpebral fissure Multicystic kidney dysplasia Erlenmeyer flask deformity of the femurs Spina bifida Decreased beta-glucocerebrosidase protein and activity Primary amenorrhea Low posterior hairline Hematological neoplasm Tetralogy of Fallot Abnormal platelet aggregation Specific learning disability Schizophrenia Autoimmunity Absent speech Obesity Patent ductus arteriosus Hyperactivity Aggressive behavior Slowed horizontal saccades Congenital cataract Renal agenesis Pulmonic stenosis Cardiac valve calcification Bulbous nose Hemolytic anemia Chorea Vesicoureteral reflux Arnold-Chiari malformation Abnormality of the hand Aplasia of the uterus Posterior embryotoxon Seborrheic dermatitis Juvenile rheumatoid arthritis Pulmonary artery atresia Thick eyebrow Spontaneous hematomas Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Intestinal bleeding Meningocele Hearing abnormality Vitiligo Bipolar affective disorder Anal stenosis Laryngeal stridor Unilateral renal agenesis Giant cell hepatitis Dysdiadochokinesis Rheumatoid arthritis Psoriasiform dermatitis Apathy Obsessive-compulsive behavior Acne Autoimmune thrombocytopenia Hypoplasia of the brainstem Inflammation of the large intestine Myopathic facies Autoimmune hemolytic anemia Axonal loss Submucous cleft hard palate Confusion Type II diabetes mellitus Highly arched eyebrow Polyhydramnios Abnormality of coagulation Petechiae Interstitial pulmonary abnormality Cough Exertional dyspnea Pallor Bulbar palsy Irritability Congenital ichthyosiform erythroderma Feeding difficulties in infancy Poor eye contact Developmental regression Elevated hepatic transaminase Jaundice Atrophy/Degeneration affecting the brainstem Lethargy Flattened moderately deformed vertebrae Hypoplastic inferior ilia Abnormality of the ilium Abnormality of joint mobility Antineutrophil antibody positivity Abnormality of dental structure Synovial hypertrophy Spinocerebellar tract disease in lower limbs Dyspnea Dysphagia Respiratory distress Vomiting Diarrhea Dystonia Abdominal pain Opisthotonus Ophthalmoplegia Generalized abnormality of skin Elbow flexion contracture Abnormal bleeding Generalized myoclonic seizures Ascites Pulmonary hypoplasia Hepatic failure Cirrhosis Cyanosis Decreased fetal movement Epistaxis Decreased body weight Anorexia Hydrops fetalis Bone pain Cardiac arrest Knee flexion contracture Menorrhagia Nausea Athetosis Abnormality of eye movement Akinesia Clubbing Hyponatremia Lymphadenopathy Ectropion Hyperbilirubinemia Portal hypertension Intracranial hemorrhage Poor suck Leukopenia Oculomotor apraxia Osteolysis Decreased pulmonary function Increased hepatic glycogen content Neurodegeneration Bowing of the long bones Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Chronic otitis media Prominent supraorbital ridges Increased intracranial pressure Recurrent bacterial infections Narrow palate Low anterior hairline Spastic gait Limb ataxia Amblyopia Tall stature Nonimmune hydrops fetalis Abnormality of the sternum Optic disc pallor Gliosis Delayed myelination Dental malocclusion Decreased antibody level in blood Abnormality of the spleen Otitis media Syncope Supranuclear gaze palsy Hypoxemia Abnormality of the larynx Multiple myeloma Depressed nasal ridge Congenital nonbullous ichthyosiform erythroderma Hypertrichosis Femoral bowing Bronchitis Increased vertebral height Thoracolumbar kyphosis Limb hypertonia Epileptic spasms Spondylolysis Hepatocellular carcinoma Increased serum ferritin Oligosacchariduria Aspiration pneumonia Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Vacuolated lymphocytes Fetal akinesia sequence Abnormal echocardiogram Limb dystonia Reduced ejection fraction Aseptic necrosis Severe sensorineural hearing impairment Patellar dislocation Slow saccadic eye movements Impaired smooth pursuit Hydrocele testis Abnormality of the helix Synovitis Spondylolisthesis Trismus Craniofacial hyperostosis Bulbar signs Hypomagnesemia Abnormal cornea morphology Progressive joint destruction Microphthalmia Thin anteverted nares Postaxial hand polydactyly Preaxial foot polydactyly Postaxial foot polydactyly Arachnoid cyst Anencephaly Abnormality of digit Partial agenesis of the corpus callosum External genital hypoplasia Molar tooth sign on MRI Prominent occiput Diabetes insipidus Finger clinodactyly Spontaneous abortion Preauricular skin tag Omphalocele Esotropia Hypoplasia of teeth High nonceruloplasmin-bound serum copper Multiple palmar creases Slender long bones with narrow diaphyses Fragmented elastic fibers in the dermis Multiple plantar creases Excessive skin wrinkling on dorsum of hands and fingers Small, conical teeth Neonatal wrinkled skin of hands and feet Tapered finger Cerebellar hypoplasia Agenesis of corpus callosum Micropenis Coloboma Abnormal cardiac septum morphology Thin vermilion border Rectovaginal fistula Hypopigmentation of the fundus Thick cerebral cortex Nephropathy Acute kidney injury Abnormal retinal morphology Nephronophthisis Short thorax Short femoral neck Cone-shaped epiphysis Trigonocephaly Short ribs Hepatic fibrosis Exotropia Short phalanx of finger Recurrent urinary tract infections Sparse scalp hair Renal cyst Short distal phalanx of finger Triangular mouth Renal insufficiency Cerebral hypoplasia Duplication of phalanx of hallux Duplication of thumb phalanx Bifid distal phalanx of the thumb Intracranial cystic lesion Pulmonary valve defects Rod-cone dystrophy Abnormality of skin pigmentation Cleft lip Low-set, posteriorly rotated ears Craniosynostosis Scarring Stage 5 chronic kidney disease Oral cleft Atrial septal dilatation Abnormality of the cheek Scaphocephaly Tremor Abnormal aortic valve morphology Encephalitis Leukoencephalopathy Intention tremor Interphalangeal joint contracture of finger Oligohydramnios Aciduria Increased serum lactate Premature birth Lactic acidosis Small for gestational age Acidosis Respiratory failure Cerebral cortical atrophy Nocturnal seizures 3-Methylglutaconic aciduria Muscle stiffness Abnormality of movement Falls Sleep disturbance Epileptic encephalopathy Frequent falls Fasciculations Joint dislocation Exaggerated startle response Myotonia Loss of consciousness Atonic seizures Hiatus hernia Esophagitis Myokymia Moderate global developmental delay Hyperalaninemia Abnormality of the intrinsic pathway Excessive wrinkled skin Premature skin wrinkling Generalized joint laxity Deep palmar crease Delayed closure of the anterior fontanelle Recurrent sinopulmonary infections Hypoplasia of the musculature Deep plantar creases Delayed cranial suture closure Short nail Abnormal isoelectric focusing of serum transferrin Palmoplantar cutis laxa Premature rupture of membranes Prominent nasolabial fold Prominent veins on trunk Slender long bone Decreased muscle mass Gastroparesis Status epilepticus Dilatation Pectus excavatum Pes planus Joint hypermobility Broad nasal tip High myopia Cerebellar vermis hypoplasia Emphysema Wormian bones Coxa vara Scapular winging Infantile muscular hypotonia Slurred speech Lipodystrophy Prominent metopic ridge Recurrent lower respiratory tract infections Vertebral hyperostosis Abnormality of dental enamel Metaphyseal dysplasia High hypermetropia Narrow nasal bridge Progressive spasticity Non-midline cleft lip Hyperostosis Aplasia/Hypoplasia of the cerebellum Cubitus valgus Hand polydactyly Brittle hair Reduced number of teeth Abnormality of vision Spastic tetraparesis Abnormality of the fingernails Spastic paraparesis Hyperactive deep tendon reflexes Tetraparesis Palmoplantar keratoderma Microcornea Overgrowth Cerebral calcification Hypotelorism Fine hair Short palpebral fissure Paraparesis Abnormal form of the vertebral bodies Abnormality of the metaphysis Hypoplasia of dental enamel Dental crowding Lymphedema Abnormality of the nail Curly hair Premature loss of teeth Paraplegia Selective tooth agenesis 4-5 finger syndactyly Abnormality iris morphology Tooth abscess 3-4 toe syndactyly Hyperintensity of cerebral white matter on MRI Optic nerve dysplasia Aplasia/Hypoplasia of the middle phalanges of the hand Joint contracture of the 5th finger Madelung deformity Progressive spastic paraparesis Narrow nasal ridge Abnormal diaphysis morphology Premature loss of primary teeth Pseudohypoparathyroidism Broad columella External ear malformation Mild global developmental delay Median cleft lip Narrow nose Abnormality of the clavicle Taurodontia Low hanging columella Retinal dysplasia Short hallux Trichorrhexis nodosa Abnormal cortical bone morphology Abnormality of the nose Neurogenic bladder Slow-growing hair Dry hair Short middle phalanx of the 5th finger Paresthesia Hypotrichosis Cone-shaped epiphyses of the phalanges of the hand Recurrent otitis media Vertebral fusion Pathologic fracture Pericardial effusion Flared metaphysis Metaphyseal widening Short long bone Corneal dystrophy Aortic regurgitation Opacification of the corneal stroma Generalized hirsutism Recurrent pneumonia Hoarse voice Sparse and thin eyebrow Thin skin Split hand Hypoplasia of the odontoid process Accessory oral frenulum Thoracic dysplasia Cholangitis Congenital hepatic fibrosis Pancreatic cysts Hypoplasia of the capital femoral epiphysis Pyelonephritis Frontal upsweep of hair Cardiomegaly Aplasia of the middle phalanx of the hand Short proximal phalanx of finger Absence of renal corticomedullary differentiation Severe short stature Weight loss Short palm Abnormal heart valve morphology Palpebral edema Spastic paraplegia Beaking of vertebral bodies T12-L3 Increased serum beta-hexosaminidase Increased serum iduronate sulfatase activity Deficiency of N-acetylglucosamine-1-phosphotransferase Bullet-shaped phalanges of the hand Progressive alveolar ridge hypertropy Varus deformity of humeral neck Lower thoracic interpediculate narrowness Thoracolumbar kyphoscoliosis Ptosis Glaucoma Deeply set eye Abnormality of the nervous system Camptodactyly Abnormality of the eye Urinary glycosaminoglycan excretion Atlantoaxial dislocation Megalocornea Ovoid vertebral bodies Severe postnatal growth retardation Radial bowing Corneal erosion Flat acetabular roof Recurrent bronchitis Hypoplastic scapulae Lack of skin elasticity Large sella turcica Flared iliac wings Myelopathy Carpal bone hypoplasia Abnormality of nervous system morphology Mucopolysacchariduria Cavernous hemangioma EEG with temporal sharp waves



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