Pain, and Ventriculomegaly

Diseases related with Pain and Ventriculomegaly

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


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Low match CARDIOMYOPATHY, DILATED, 1A; CMD1A

Dilated cardiomyopathy (CMD) is characterized by cardiac dilatation and reduced systolic function. CMD is the most frequent form of cardiomyopathy and accounts for more than half of all cardiac transplantations performed in patients between 1 and 10 years of age. A heritable pattern is present in 20 to 30% of cases. Most familial CMD pedigrees show an autosomal dominant pattern of inheritance, usually presenting in the second or third decade of life (summary by Levitas et al., 2010). Genetic Heterogeneity of Dilated CardiomyopathyMutations in many other genes have been found to cause different forms of dilated cardiomyopathy. These include CMD1C (OMIM ), with or without left ventricular noncompaction, caused by mutation in the LDB3 gene (OMIM ) on 10q22-q23; CMD1D (OMIM ), caused by mutation in the TNNT2 gene (OMIM ) on 1q32; CMD1E (OMIM ), caused by mutation in the SCN5A gene (OMIM ) on 3p; CMD1G (OMIM ), caused by mutation in the TTN gene (OMIM ) on 2q31; CMD1I (OMIM ), caused by mutation in the DES gene (OMIM ) on 2q35; CMD1J (OMIM ), caused by mutation in the EYA4 gene (OMIM ) on 6q23-q24; CMD1L (OMIM ), caused by mutation in the SGCD gene (OMIM ) on 5q33; CMD1M (OMIM ), caused by mutation in the CSRP3 gene (OMIM ) on 11p15.1; CMD1O (OMIM ), caused by mutation in the ABCC9 gene (OMIM ) on 12p12.1; CMD1P (OMIM ), caused by mutation in the PLN gene (OMIM ) on 6q22.1; CMD1R (OMIM ), caused by mutation in the ACTC gene (OMIM ) on 15q14; CMD1S (OMIM ), caused by mutation in the MYH7 gene (OMIM ) on 14q12; CMD1U (OMIM ), caused by mutation in the PSEN1 gene (OMIM ) on 14q24.3; CMD1V (OMIM ), caused by mutation in the PSEN2 gene (OMIM ) on 1q31-q42; CMD1W (OMIM ), caused by mutation in the gene encoding metavinculin (VCL ) on 10q22-q23; CMD1X (OMIM ), caused by mutation in the gene encoding fukutin (FKTN ) on 9q31; CMD1Y (OMIM ), caused by mutation in the TPM1 gene (OMIM ) on 15q22.1; CMD1Z (OMIM ), caused by mutation in the TNNC1 gene (OMIM ) on 3p21.3-p14.3; CMD1AA (OMIM ), caused by mutation in the ACTN2 gene (OMIM ) on 1q42-q43; CMD1BB (OMIM ), caused by mutation in the DSG2 gene (OMIM ) on 18q12.1-q12.2; CMD1CC (OMIM ), caused by mutation in the NEXN gene (OMIM ) on 1p31.1; CMD1DD (OMIM ), caused by mutation in the RBM20 gene (OMIM ) on chromosome 10q25.2; CMD1EE (OMIM ), caused by mutation in the MYH6 gene (OMIM ) on chromosome 14q12; CMD1FF (OMIM ), caused by mutation in the TNNI3 gene (OMIM ) on chromosome 19q13.4; CMD1GG (OMIM ), caused by mutation in the SDHA gene (OMIM ) on chromosome 5p15; and CMD1HH (OMIM ), caused by mutation in the BAG3 gene (OMIM ) on chromosome 10q26.11; CMD1II (OMIM ), caused by mutation in the CRYAB gene (OMIM ) on chromosome 6q21; CMD1JJ (OMIM ), caused by mutation in the LAMA4 gene (OMIM ) on chromosome 6q21; CMD1KK (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21; CMD1LL (OMIM ), caused by mutation in the PRDM16 gene (OMIM ) on chromosome 1p36; and CMD1MM (see {615396}), caused by mutation in the MYBPC3 gene (OMIM ) on chromosome 11p11. Also see CMD2A (OMIM ), caused by mutation in the TNNI3 gene, and CMD2B (OMIM ), caused by mutation in the GATAD1 gene (OMIM ).Several additional loci for familial dilated cardiomyopathy have been mapped: CMD1B (OMIM ) on 9q13; CMD1H (OMIM ) on 2q14-q22; CMD1K (OMIM ) on 6q12-q16; and CMD1Q (OMIM ) on 7q22.3-q31.1.The symbol CMD1F was formerly used for a disorder later found to be the same as desmin-related myopathy (OMIM ).The symbol CMD1N (see {607487}) was previously used for a form of dilated cardiomyopathy reported to be caused by a mutation in the TCAP gene ({604488.0003}); this variant has subsequently been reclassified as a variant of unknown significance.The symbol CMD1T was previously used for a form of dilated cardiomyopathy reported to be caused by a mutation in the TMPO gene ({188380.0001}); this variant has subsequently been reclassified as a variant of unknown significance.An X-linked form of CMD (CMD3B ) is caused by mutation in the DMD gene (OMIM ). An X-linked form previously designated CMD3A was found to be the same as Barth syndrome (OMIM ).

CARDIOMYOPATHY, DILATED, 1A; CMD1A Is also known as cardiomyopathy, dilated, with conduction defect 1;cdcd1, cardiomyopathy, idiopathic dilated, cardiomyopathy, familial idiopathic, cardiomyopathy, congestive;

Related symptoms:

  • Autosomal dominant inheritance
  • Ataxia
  • Milia
  • Myopathy
  • Pain


SOURCES: SCTID ORPHANET OMIM UMLS DOID MONDO

More info about CARDIOMYOPATHY, DILATED, 1A; CMD1A

Low match CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY

CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY Is also known as cmd without intellectual disability; cmd-no mr; congenital muscular dystrophy-dystroglycanopathy without intellectual disability

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Motor delay
  • Ventriculomegaly
  • Cerebellar atrophy


SOURCES: ORPHANET

More info about CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related, mngie, polg-related

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS OMIM MONDO DOID

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

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Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1

Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) represent the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; review by Godfrey et al., 2007). The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation (type B; see MDDGB1, {613155}). Genetic Heterogeneity of Limb-Girdle Muscular Dystrophy-Dystroglycanopathy (Type C)Limb-girdle muscular dystrophy due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGC2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGC3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGC4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGC5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGC7 (OMIM ), caused by mutation in the ISPD gene (OMIM ); MDDGC9 (OMIM ) caused by mutation in the DAG1 gene (OMIM ); MDDGC12 (OMIM ), caused by mutation in the POMK gene (OMIM ); and MDDGC14 (OMIM ) caused by mutation in the GMPPB gene (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1 Is also known as muscular dystrophy, limb-girdle, type 2k;lgmd2k;lgmd2k; limb-girdle muscular dystrophy-intellectual disability syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Motor delay


SOURCES: GARD NCIT MONDO EFO UMLS DOID OMIM ORPHANET SCTID

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5

MDDGB5 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5 Is also known as muscular dystrophy, congenital, 1c;mdc1c, muscular dystrophy, congenital, fkrp-related

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: MONDO UMLS DOID OMIM ORPHANET MESH

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5

Low match POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL

Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL Is also known as nasu-hakola disease;nhd, presenile dementia with bone cysts, dementia, prefrontal, with bone cysts, dementia, progressive, with lipomembranous polycystic osteodysplasia, brain-bone-fat disease;nhd; plo-sl; plosl; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Pica
  • Spasticity
  • Pain


SOURCES: ORPHANET MESH UMLS DOID GARD MONDO SCTID OMIM

More info about POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL

Low match SPINOCEREBELLAR ATAXIA 2; SCA2

Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (OMIM ), SCA2, and SCA3, or Machado-Joseph disease (OMIM ). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 2; SCA2 Is also known as spinocerebellar atrophy ii, olivopontocerebellar atrophy, holguin type, olivopontocerebellar atrophy ii;opca2, spinocerebellar ataxia, cuban type, cerebellar degeneration with slow eye movements, wadia-swami syndrome, spinocerebellar degeneration with slow eye movements;sdsem

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Pica
  • Ataxia


SOURCES: MONDO OMIM

More info about SPINOCEREBELLAR ATAXIA 2; SCA2

Low match MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT

MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT Is also known as ;mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Related symptoms:

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


SOURCES: ORPHANET MONDO UMLS OMIM

More info about MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT

Low match BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1

Familial idiopathic basal ganglia calcification is an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Patients with calcifications can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase, and parathyroid hormone are normal. The typical age at clinical onset is between 30 and 50 years (summary by Wang et al., 2012).Calcification of the basal ganglia is a nonspecific finding in many medical conditions, including infectious, metabolic, and genetic syndromes. In addition, calcification of the basal ganglia is observed as an incidental finding in approximately 0.7 to 1.2% of CT scans (Koller et al., 1979; Harrington et al., 1981; Forstl et al., 1992). These incidental calcifications are usually benign and have no clear etiology, especially in patients over 60 years of age (Geschwind et al., 1999). Forstl et al. (1992) found no increased risk for dementia, cerebral infarction, seizures, alcoholism, vertigo, or headache in 166 patients with calcification of the basal ganglia compared to 622 individuals without calcification. Genetic Heterogeneity of Idiopathic Basal Ganglia CalcificationIBGC2 (OMIM ) has been mapped to chromosome 2q37. IBGC4 (OMIM ) is caused by mutation in the PDGFRB gene (OMIM ) on chromosome 5q32; IBGC5 (OMIM ) is caused by mutation in the PDGFB gene (OMIM ) on chromosome 22q13; and IBGC6 (OMIM ) is caused by mutation in the XPR1 gene (OMIM ) on 1q25.See {114100} for a childhood-onset form of idiopathic basal ganglia calcification.The symbol IBGC3 previously referred to the locus on chromosome 8p11 that includes the SLC20A2 gene (Dai et al., 2010). However, the family that originally defined the putative IBGC1 locus on chromosome 14q (Geschwind et al., 1999) was later found to carry a pathogenic mutation in the SLC20A2 gene (Hsu et al., 2013), and the IBGC locus on chromosome 14q has not been replicated (Oliveira et al., 2004; Hsu et al., 2013). Thus, the symbol IBGC1 now refers to the disorder caused by mutation in the SLC20A2 gene on chromosome 8p11 and the symbol IBGC3 is no longer used.

BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1 Is also known as striopallidodentate calcinosis, bilateral;bspdc, striopallidodentate calcinosis, autosomal dominant, adult-onset, cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset, ferrocalcinosis, cerebrovascular, fahr disease, familial, formerly, basal ganglia calcification, idiopathic, 3, formerly;ibgc3, formerly;bspdc; cerebrovascular ferrocalcinosis; idiopathic basal ganglia calcification; pfbc; primary familial brain calcification

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly


SOURCES: SCTID ORPHANET UMLS MONDO OMIM

More info about BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1

Top 5 symptoms//phenotypes associated to Pain and Ventriculomegaly

Symptoms // Phenotype % cases
Difficulty walking Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Pain and Ventriculomegaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Myopathy Neonatal hypotonia Myalgia Global developmental delay Intellectual disability Abnormality of the cerebral white matter Congenital muscular dystrophy Frequent falls Generalized muscle weakness Seizures Autosomal dominant inheritance Muscle weakness Encephalopathy Flexion contracture Dementia Rigidity Abnormality of movement Chorea Tremor Gait ataxia Dysmetria Dysdiadochokinesis Scoliosis Gliosis Cerebellar atrophy Dilatation Milia Increased variability in muscle fiber diameter

Rare Symptoms - Less than 30% cases


Cough Ventricular hypertrophy Myoclonus Cerebral atrophy Gait disturbance Spasticity Pica Intellectual disability, mild Poor coordination Nevus Thigh hypertrophy Depressivity Difficulty climbing stairs Calf muscle hypertrophy Gowers sign Trophic changes related to pain Schizophrenia Muscular dystrophy Neurological speech impairment Limb ataxia Elevated serum creatine phosphokinase Postural instability Dysarthria Dystonia Cognitive impairment Hyporeflexia Retinopathy Mental deterioration Pallor Cardiomyopathy Parkinsonism Kyphoscoliosis Cerebral calcification Basal ganglia calcification Dyskinesia Abnormal cerebellum morphology Neuronal loss in central nervous system Oculomotor apraxia Bradykinesia Pigmentary retinopathy Memory impairment Progressive neurologic deterioration Urinary incontinence Proximal muscle weakness Dysphagia Mitochondrial myopathy Heterotopia Progressive Abdominal pain Infantile onset Peripheral neuropathy Growth delay Hearing impairment Short stature Ophthalmoplegia Proximal amyotrophy Achilles tendon contracture Toe walking EMG: myopathic abnormalities Leukoencephalopathy Cerebellar cyst Pachygyria Muscle cramps Postural tremor Truncal ataxia Diplopia External ophthalmoplegia Drooling Arrhythmia Rod-cone dystrophy Poor head control Impaired vibratory sensation Limb dysmetria Fasciculations Spinal muscular atrophy Focal motor seizures Progressive choreoathetosis Mask-like facies Resting tremor Calcification of the small brain vessels Urinary bladder sphincter dysfunction Subcutaneous hemorrhage Orofacial dyskinesia Hypoparathyroidism Clonus Abnormality of eye movement Distal amyotrophy Retinal degeneration Sleep disturbance Abnormality of the eye Focal dystonia Pseudohypoparathyroidism Abnormal lower motor neuron morphology Apnea Sensory neuropathy Gaze-evoked nystagmus Progressive cerebellar ataxia Lewy bodies Frontotemporal dementia Neurodegeneration Progressive encephalopathy Bipolar affective disorder Abnormality of neuronal migration Emotional lability Saccadic smooth pursuit Action tremor Myopathic facies Falls Acrania Small hand Amenorrhea Adult onset Sensory impairment Intention tremor Primary amenorrhea Abnormality of the liver Corneal opacity Lipoma Abnormal pyramidal sign Long face Headache Multiple lipomas Hyperthyroidism Prolactin excess Thick hair Speech articulation difficulties Enlarged interhemispheric fissure Hepatomegaly Hyperreflexia Intrauterine growth retardation Hypertension Abnormality of extrapyramidal motor function Distal sensory impairment Slow saccadic eye movements Downbeat nystagmus Thrombocytopenia Calcinosis Clumsiness Olivopontocerebellar atrophy Pontocerebellar atrophy Dysmetric saccades Spinocerebellar tract degeneration Dilated fourth ventricle Hypometric saccades Hypopnea Genetic anticipation Central nervous system degeneration Distal muscle weakness Impaired horizontal smooth pursuit Palatal myoclonus Micrognathia Choreoathetosis Pectus excavatum Athetosis Delayed skeletal maturation Pes cavus Psychosis Fatigue Mandibular prognathia Anxiety Cerebellar hypoplasia Pathologic fracture Tics Autistic behavior Celiac disease Hypomagnesemia Gastrointestinal dysmotility Intestinal pseudo-obstruction Sensory ataxic neuropathy Bradycardia Cardiomegaly Chest pain Delayed speech and language development Respiratory distress Dyspnea Slow progression Waddling gait Malnutrition Lumbar hyperlordosis Left ventricular hypertrophy Easy fatigability Skeletal muscle hypertrophy Generalized amyotrophy Hypokinesia Centrally nucleated skeletal muscle fibers Spinal rigidity Limb-girdle muscular dystrophy Type 1 muscle fiber predominance Limb-girdle muscle weakness Abnormal glycosylation Progressive external ophthalmoplegia Bilateral talipes equinovarus Triceps weakness Pericardial effusion Reduced systolic function Premature atrial contractions Skeletal myopathy Atrial flutter Sinus bradycardia Myocarditis Amyloidosis Mildly elevated creatine phosphokinase Facial diplegia Fatty replacement of skeletal muscle Limb-girdle muscle atrophy Reduced muscle fiber alpha dystroglycan Abnormality of the thyroid gland Hypokalemia Ventricular arrhythmia Talipes equinovarus Atrial fibrillation Constipation Respiratory failure Hypoglycemia Malabsorption Unsteady gait Abdominal distention Hepatic fibrosis Decreased liver function Cachexia Impaired visuospatial constructive cognition Feeding difficulties Skeletal muscle atrophy Senile plaques Peripheral demyelination Abnormality of epiphysis morphology Bone pain Reduced bone mineral density Abnormality of the hand Personality changes Alzheimer disease Axonal loss Neurofibrillary tangles Acute leukemia Bone cyst Cerebral edema Primitive reflex Congestive heart failure Disinhibition Abnormal upper motor neuron morphology Agnosia Frontal lobe dementia Abnormal adipose tissue morphology Lack of insight Functional abnormality of the gastrointestinal tract Caudate atrophy Nystagmus Muscular hypotonia Visual impairment Optic atrophy Apraxia Limitation of joint mobility Kyphosis Hypertrophy of the lower limb Congenital onset Feeding difficulties in infancy Facial palsy Hyperlordosis Macroglossia Delayed gross motor development Vertebral fusion Absent septum pellucidum Hypoplasia of the pons Shoulder girdle muscle weakness Restrictive deficit on pulmonary function testing Shoulder girdle muscle atrophy Edema Leukemia Hypoplasia of the corpus callosum Hydrocephalus Behavioral abnormality Babinski sign Cerebral cortical atrophy EEG abnormality Arthralgia Aggressive behavior Skeletal dysplasia Developmental regression Irritability Dilated cardiomyopathy Abnormality of the foot Dense calcifications in the cerebellar dentate nucleus



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