Hyperreflexia, and Abnormality of the ribs

Diseases related with Hyperreflexia and Abnormality of the ribs

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


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Low match CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS


Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Low match ACHONDROPLASIA


Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Low match SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2


An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

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Low match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Low match NEURAMINIDASE DEFICIENCY


Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

Low match MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS


MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

Low match MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7


Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Low match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Low match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A


De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219100}. Genetic Heterogeneity of de Barsy SyndromeAlso see ARCL3B (OMIM ), caused by mutation in the PYCR1 gene (OMIM ) on chromosome 17q25.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Is also known as de barsy syndrome a|cutis laxa, corneal clouding, and mental retardation|progeroid syndrome of de barsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

Low match GM1-GANGLIOSIDOSIS, TYPE I


GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).

GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1|gangliosidosis, generalized gm1, type i|glb1 deficiency|gangliosidosis, generalized gm1, infantile form|beta-galactosidase-1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1-GANGLIOSIDOSIS, TYPE I

Top 5 symptoms//phenotypes associated to Hyperreflexia and Abnormality of the ribs

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormality of the skeletal system Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Hyperreflexia and Abnormality of the ribs. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Severe short stature

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Mandibular prognathia Hyperlordosis Kyphosis Skeletal dysplasia Muscular hypotonia Coarse facial features Inguinal hernia Short neck Respiratory tract infection Hypertelorism Failure to thrive Cardiomyopathy Malar flattening Hearing impairment Pectus excavatum Hepatosplenomegaly Splenomegaly Depressed nasal bridge High palate Hepatomegaly Macrocephaly Frontal bossing Recurrent respiratory infections Dysostosis multiplex Talipes equinovarus Epicanthus Hypertrophic cardiomyopathy Macrotia Skeletal muscle atrophy Corneal opacity Lumbar hyperlordosis Cataract Tremor Micrognathia Macroglossia Strabismus Delayed speech and language development Respiratory failure Brachycephaly Joint stiffness Intrauterine growth retardation Anteverted nares Respiratory distress Blindness Hernia Midface retrusion Cleft palate Growth delay Short nose Neurodegeneration Muscle weakness Low-set ears Pectus carinatum Joint contracture of the hand Abnormality of the nervous system Atrial septal defect Mild short stature Hyperactive deep tendon reflexes Polyhydramnios Microcephaly Feeding difficulties

Rare Symptoms - Less than 30% cases


Posteriorly rotated ears Intellectual disability, severe Intellectual disability, mild J-shaped sella turcica Pneumonia Poor suck Weight loss Thin upper lip vermilion Wide nose Hypospadias Recurrent infections Vomiting Acetabular dysplasia Beaking of vertebral bodies Cryptorchidism Recurrent upper respiratory tract infections Abnormality of the rib cage Abnormal heart morphology Abdominal distention Anxiety Thoracic kyphosis Ascites Cardiomegaly Opacification of the corneal stroma Hydrops fetalis Gingival overgrowth Hypertrichosis Barrel-shaped chest Proteinuria Prominent forehead Vacuolated lymphocytes Cherry red spot of the macula Wide nasal bridge Optic atrophy Patent ductus arteriosus Abnormality of movement Dyspnea Poor speech Narrow mouth Triangular face Hirsutism Umbilical hernia Hip dislocation Sparse hair Protruding ear Spondyloepiphyseal dysplasia Abnormal heart valve morphology Long philtrum Ventricular septal defect Ataxia Nystagmus Postnatal growth retardation Visual loss Dementia Sensorineural hearing impairment Congenital hip dislocation Genu valgum Abnormality of the metaphysis Wormian bones Thin ribs Rhizomelia Apnea Dilated cardiomyopathy Brachydactyly Abnormal form of the vertebral bodies Pes cavus Ventriculomegaly Limb undergrowth Falls Hydrocephalus Obesity Narrow face Narrow chest Waddling gait Disproportionate short-limb short stature Decreased fetal movement Elbow dislocation Motor delay Edema Congestive heart failure Hypertonia Respiratory insufficiency Large forehead Thoracolumbar scoliosis Broad nasal tip Prominent sternum Thoracic kyphoscoliosis Narrow greater sacrosciatic notches Abnormality of the skin Thoracolumbar kyphosis Heparan sulfate excretion in urine Depressed nasal ridge Snoring Abnormality of epiphysis morphology Pseudoarthrosis Dermatan sulfate excretion in urine Camptodactyly of finger Arthralgia Pulmonary insufficiency Metatarsus adductus Broad ribs Spinal cord compression Overlapping fingers Excessive wrinkled skin Narrow nasal ridge Calcaneovalgus deformity Dermal translucency Wide cranial sutures Developmental regression Corneal arcus Polar cataract Recurrent ear infections Hypoargininemia Prominent superficial blood vessels Dystonia Nonimmune hydrops fetalis Hypoplasia of the odontoid process High forehead Generalized hirsutism Muscular hypotonia of the trunk Hypoplastic vertebral bodies Rough bone trabeculation Platyspondyly Angiokeratoma corporis diffusum Abnormality of the scrotum Thickened ribs Intellectual disability, moderate Cerebral degeneration Facial asymmetry Kyphoscoliosis Arrhythmia Dilatation Cognitive impairment Hypoplastic acetabulae Obstructive lung disease Decreased beta-galactosidase activity Macrovesicular hepatic steatosis Exaggerated startle response Vertigo Pleural effusion Generalized dystonia Abnormality of the urinary system Encephalitis Pterygium Widely spaced teeth Decreased pulmonary function Bundle branch block Cardiac arrest Broad-based gait Thick eyebrow Spastic tetraplegia Abnormality of the retinal vasculature Aplasia/Hypoplasia of the abdominal wall musculature Abnormal diaphysis morphology Hip dysplasia Webbed neck Psychomotor deterioration Tetraplegia Anterior beaking of lumbar vertebrae Microphthalmia Proximal tapering of metacarpals Sparse lateral eyebrow Macrodontia Anteverted ears Broad columella Thin eyebrow Thin skin Heterotaxy Small face Abnormality of the thumb Ankylosis Phimosis Sprengel anomaly Large fontanelles Prominent metopic ridge High hypermetropia Wide anterior fontanel Spastic diplegia Cupped ear Chorioretinal coloboma Moderately short stature Round ear Cutis laxa Scarring Agenesis of corpus callosum Delayed skeletal maturation Absent speech Hypoplasia of the corpus callosum Myopia Abnormal hair laboratory examination Difficulty walking Joint laxity Blepharophimosis Fine hair Abnormality of skin pigmentation Thin vermilion border Joint hypermobility Distal amyotrophy Decreased head circumference Underdeveloped nasal alae Hypotelorism Blue sclerae Narrow foot Elbow flexion contracture Failure to thrive in infancy Anterior beaking of lower thoracic vertebrae Diabetes mellitus Hypermetropia Spastic paraplegia Short philtrum Coloboma Reduced subcutaneous adipose tissue Prematurely aged appearance Camptodactyly Subcapsular cataract Upslanted palpebral fissure Anal atresia Alopecia Clinodactyly of the 5th finger Cerebral atrophy Osteoporosis Severe intrauterine growth retardation Severe failure to thrive Behavioral abnormality Progeroid facial appearance Premature skin wrinkling Paraplegia Arachnodactyly Hyperammonemia Multiple joint contractures Adducted thumb Hyperextensible skin Nasal speech Redundant skin Cachexia Athetosis Abnormality of the hair Situs inversus totalis Renal hypoplasia Long face Tetralogy of Fallot Decreased testicular size Prominent nose Neurodevelopmental delay Hypoplasia of the maxilla High, narrow palate Congenital glaucoma Iris coloboma Bulbous nose Flared iliac wings Peripheral neuropathy Tubular atrophy Genu varum Obstructive sleep apnea Spinal canal stenosis Disproportionate short stature Limited elbow extension Mesomelia Flared metaphysis Chronic otitis media Abnormality of pelvic girdle bone morphology Short long bone Diaphyseal thickening Acanthosis nigricans Clonus Dental crowding Bowing of the long bones Dental malocclusion Sudden cardiac death Short palm Micromelia Joint hyperflexibility Abnormality of the elbow Neonatal short-limb short stature Conductive hearing impairment Tapered finger Broad palm Short finger Radial deviation of finger Deep philtrum Intellectual disability, progressive Multicystic kidney dysplasia Broad thumb Small nail Wide intermamillary distance Single transverse palmar crease Long thorax Dolichocephaly Wide mouth Micropenis Clinodactyly Acromelia Abnormality of the ilium Childhood onset short-limb short stature Narrow sacroiliac notch Aplasia/hypoplasia of the extremities Neurological speech impairment Hyperhidrosis Thickened nuchal skin fold Paralysis Knee flexion contracture Foot dorsiflexor weakness Frequent falls Generalized muscle weakness Pulmonary hypoplasia Limb muscle weakness Arthrogryposis multiplex congenita Cough Feeding difficulties in infancy Infantile muscular hypotonia Facial palsy Proximal muscle weakness Neonatal hypotonia Rigidity Retrognathia Hyporeflexia Areflexia Myopathy Dysphagia Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Dysarthria Fetal akinesia sequence Late-onset distal muscle weakness Percussion myotonia Fetal distress Diaphragmatic paralysis Neck flexor weakness Slender build Breech presentation Type 1 muscle fiber predominance Nemaline bodies Facial diplegia Congenital contracture EMG: neuropathic changes Hypoventilation Spinal rigidity Bulbar palsy Mildly elevated creatine phosphokinase Myopathic facies Mask-like facies Myotonia Akinesia Scaphocephaly U-Shaped upper lip vermilion Focal segmental glomerulosclerosis Osteopenia Epiphyseal stippling Slurred speech Laryngomalacia Choreoathetosis Progressive visual loss Progressive cerebellar ataxia Dysmetria Mental deterioration Myoclonus Hand tremor Visual impairment Distal tapering femur Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Long clavicles Syringomyelia Foam cells Intestinal pseudo-obstruction Hepatic steatosis Glomerulosclerosis Coarse hair Bone marrow hypocellularity Thickened skin Long eyelashes Abnormal lung morphology Cerebral calcification Delayed myelination Brain atrophy Thick vermilion border Facial edema Abnormality of the foot Synophrys Abnormal pyramidal sign Telecanthus Thrombocytopenia Anemia Urinary excretion of sialylated oligosaccharides Increased urinary O-linked sialopeptides Bone-marrow foam cells Fibular aplasia Coronal cleft vertebrae Facial capillary hemangioma Generalized tonic-clonic seizures Recurrent urinary tract infections Encephalocele Otitis media Short metacarpal Premature birth Generalized myoclonic seizures Inability to walk Nausea Talipes Autistic behavior Aspiration Deeply set eye Gastroesophageal reflux Proptosis Autism Abdominal pain Constipation Depressivity Gait disturbance Pain Sinusitis Meningitis Lethal skeletal dysplasia Tibial bowing Fused cervical vertebrae 11 pairs of ribs Short femur Radial bowing Bell-shaped thorax Loss of speech Short humerus Atonic seizures Progressive spasticity Flat occiput Muscle stiffness Clubbing Oral-pharyngeal dysphagia Short metatarsal Hyperkinesis Drooling Abnormality of the outer ear Joint dislocation Absence seizures Recurrent pneumonia Abnormality of ganglioside metabolism



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