Tremor, and Hypertrichosis

Diseases related with Tremor and Hypertrichosis

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


Top matches:

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY


Autosomal recessive spinocerebellar ataxia-17 is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variable intellectual disability (summary by Evers et al., 2016).

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY Is also known as scar17|spinocerebellar ataxia autosomal recessive type 17

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B


Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005).For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Is also known as sanfilippo syndrome b|mps iiib|n-acetyl-alpha-d-glucosaminidase deficiency|naglu deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B

Low match ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME


Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

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Other less relevant matches:

Low match X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME


X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME


Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures SyndromeMCAHS2 (OMIM ) is caused by mutation in the PIGA gene (OMIM ) on chromosome Xp22, and MCAHS3 (OMIM ) is caused by mutation in the PIGT gene (OMIM ) on chromosome 20q13.Knaus et al. (2018) provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between MCAHS and HPMRS1 (OMIM ), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME Is also known as congenital disorder of glycosylation due to pign deficiency|glycosylphosphatidylinositol biosynthesis defect 3|pign-cdg|gpibd3

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE


X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Low match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Low match CEREBROFACIOTHORACIC DYSPLASIA


Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.

CEREBROFACIOTHORACIC DYSPLASIA Is also known as pascual-castroviejo syndrome type 1|cerebrofaciothoracic dysplasia

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CEREBROFACIOTHORACIC DYSPLASIA

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

Low match EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6


EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6 Is also known as cortical myoclonic tremor with epilepsy, familial, 6|benign adult familial myoclonic epilepsy 6|fcmte6|bafme6

Related symptoms:

  • Seizures
  • Tremor


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6

Top 5 symptoms//phenotypes associated to Tremor and Hypertrichosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Synophrys Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Tremor and Hypertrichosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypoplasia of the corpus callosum

Uncommon Symptoms - Between 30% and 50% cases


Seizures Nystagmus Short neck Abnormal facial shape Mandibular prognathia Ventriculomegaly Hypertelorism Strabismus Microcephaly Cerebellar atrophy Anteverted nares Muscular hypotonia High palate Long philtrum Growth delay Scoliosis Absent speech Downslanted palpebral fissures Delayed speech and language development Coarse facial features Inguinal hernia Short stature Kyphosis Dysarthria Splenomegaly Intrauterine growth retardation Hyperreflexia Broad nasal tip Joint hypermobility Cryptorchidism Attention deficit hyperactivity disorder Motor delay Postnatal growth retardation Macrotia Micrognathia Neonatal hypotonia Dystonia Hernia Abnormality of movement Dysmetria Unsteady gait Apraxia Intention tremor Cerebellar vermis hypoplasia Wide mouth Gait ataxia Low-set ears Slurred speech Cerebellar hypoplasia Macrocephaly Epicanthus Hearing impairment Depressed nasal bridge

Rare Symptoms - Less than 30% cases


Brachydactyly Pectus excavatum Beaking of vertebral bodies Pes cavus Hypogonadism Micropenis Obesity Pes planus Gastroesophageal reflux High forehead Abnormality of the urinary system Immunodeficiency Frontal bossing Prominent nasal bridge Abnormality of the pinna Cleft lip Hydronephrosis Polyhydramnios Brachycephaly Upslanted palpebral fissure Posteriorly rotated ears Hyporeflexia Patent ductus arteriosus Short nose Hypertonia Atrial septal defect Spasticity Deeply set eye Cleft palate Short foot Vesicoureteral reflux Narrow forehead Short philtrum Sacral dimple Gingival overgrowth Bulbous nose Long face Sparse hair Skeletal muscle atrophy Gait disturbance Anxiety Camptodactyly of finger Postural tremor Cataract Dysostosis multiplex Cognitive impairment Ptosis Dementia Behavioral abnormality Broad-based gait Cerebellar vermis atrophy Thickened ribs Midface retrusion Hypothyroidism Truncal obesity Optic atrophy Coarse hair Acanthosis nigricans Limb ataxia Severe short stature Cardiomegaly Cortical gyral simplification Cardiomyopathy Neurodegeneration Hepatomegaly Hemivertebrae Hyperactivity Hirsutism Macroglossia Babinski sign Joint stiffness Abnormal hair pattern Renal agenesis Flat face Intellectual disability, moderate Falls Thick eyebrow Low anterior hairline Abnormal cerebellum morphology High, narrow palate Cerebral atrophy Aggressive behavior Neurological speech impairment Corneal opacity Decreased testicular size Muscular hypotonia of the trunk Dilated cardiomyopathy Cerebral cortical atrophy Peripheral neuropathy Increased circulating gonadotropin level Low hanging columella Misalignment of teeth Limb undergrowth Recurrent infections Anemia Sensorineural hearing impairment Long nose Neoplasm Abnormality of toe Moderately short stature Mood swings Small earlobe Shuffling gait Abnormality of lipid metabolism Lymphopenia Ectopic kidney Retinopathy Pigmentary retinopathy Bradykinesia Sloping forehead Progressive cerebellar ataxia Triangular face Hypotelorism Polyneuropathy Sensory neuropathy Hypermetropia Epidermal acanthosis Small for gestational age Renal hypoplasia Abnormal pyramidal sign Cutaneous photosensitivity Rigidity High pitched voice Leukopenia Sensory axonal neuropathy Thrombocytopenia Bilateral cryptorchidism Unilateral renal agenesis Dysdiadochokinesis Goiter Short chin Diabetes mellitus Bone marrow hypocellularity Hypergonadotropic hypogonadism Convex nasal ridge Insulin resistance Abnormal lung morphology Clinodactyly Chronic lung disease Large for gestational age Glioma Arthralgia Depressed nasal ridge Abnormality of the skin Abdominal distention Hyperlordosis Developmental regression Hypertrophic cardiomyopathy Hepatosplenomegaly Skeletal dysplasia Abnormality of the metaphysis Weight loss Recurrent respiratory infections Congestive heart failure Blindness Abnormality of the skeletal system Muscle weakness Microdontia of primary teeth Bifid ribs Abnormal form of the vertebral bodies Poliosis Exaggerated startle response Decreased beta-galactosidase activity Cerebral degeneration Abnormality of the scrotum Angiokeratoma corporis diffusum Cherry red spot of the macula Rough bone trabeculation Hypoplastic vertebral bodies Vacuolated lymphocytes Psychomotor deterioration Abnormality of epiphysis morphology Abnormal diaphysis morphology Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the retinal vasculature Generalized dystonia Abnormal heart valve morphology Bundle branch block Encephalitis Generalized hirsutism Exodeviation Bull's eye maculopathy Multinodular goiter Narrow chest Growth hormone deficiency Hypoplasia of the maxilla Highly arched eyebrow Wide nose Oral cleft Cleft upper lip Talipes Pectus carinatum Postaxial hand polydactyly Craniosynostosis Abnormality of the kidney Low-set, posteriorly rotated ears Talipes equinovarus Wide nasal bridge Feeding difficulties Long neck Gastrointestinal stroma tumor Wide intermamillary distance Decreased fetal movement Hyperextensibility of the finger joints Vertebral segmentation defect Rib fusion Broad philtrum Conical tooth Rectovaginal fistula Self-mutilation Sprengel anomaly Shawl scrotum Vertebral fusion Neurodevelopmental delay Abnormality of the ribs Supernumerary nipple Overlapping toe Abdominal obesity Sparse eyelashes Sparse and thin eyebrow Tall stature Long eyelashes Low posterior hairline Abnormality of earlobe Patent foramen ovale Panhypopituitarism Craniofacial asymmetry Prominent forehead Constipation Dysphagia Myopia Frontal cortical atrophy Truncal titubation Scanning speech Osteopenia Broad distal phalanx of finger Abnormality of the pulmonary artery Titubation Speech apraxia Hypoplasia of the fovea Hearing abnormality Proptosis Thin upper lip vermilion Aniridia Delayed gross motor development Aplasia cutis congenita Spastic diplegia Flat occiput Oral-pharyngeal dysphagia Chronic otitis media Prominent supraorbital ridges Reduced tendon reflexes Protruding ear Microretrognathia Pointed chin Eczema Hip dysplasia Abnormality of eye movement Autistic behavior Hypoplasia of the iris Brisk reflexes Gait imbalance Mild microcephaly Diarrhea Failure to thrive Abnormality of the distal phalanx of the thumb Monotonic speech Thoracic hemivertebrae Nonprogressive cerebellar ataxia Infantile muscular hypotonia Sleep disturbance Oculomotor apraxia Horizontal nystagmus Truncal ataxia Frequent falls Clumsiness Agenesis of corpus callosum Retinal degeneration Progressive neurologic deterioration Mask-like facies Coloboma Bilateral ptosis Poor head control Involuntary movements Hypopigmentation of the skin Pulmonic stenosis Congenital cataract Reduced visual acuity Recurrent upper respiratory tract infections Intellectual disability, mild Visual impairment Dense calvaria Ovoid thoracolumbar vertebrae Heparan sulfate excretion in urine Asymmetric septal hypertrophy Protuberant abdomen Depressed nasal tip Thickened helices Tics Polymicrogyria Interphalangeal joint contracture of finger Hypoplasia of penis Memory impairment Prominent nose Small hand Short palm Joint hyperflexibility Short thumb Delayed puberty Toe syndactyly Blepharophimosis Joint laxity EEG abnormality Hyperhidrosis Thick lower lip vermilion Gynecomastia Hypospadias Abnormality of the musculature Distal lower limb amyotrophy Down-sloping shoulders Scaphocephaly Restlessness Striae distensae Biparietal narrowing Cortical dysplasia Narrow palpebral fissure Open bite Large hands Cubitus valgus Cachexia Relative macrocephaly Sandal gap Clinodactyly of the 5th finger Intellectual disability, severe Nasolacrimal duct obstruction Prominent protruding coccyx Pulmonary hypoplasia Thin vermilion border Anal atresia Abnormal cardiac septum morphology Abnormality of the septum pellucidum Talipes cavus equinovarus Broad chin Brain atrophy Thickened ears Prominent coccyx Caesarian section Sleep-wake cycle disturbance Short digit Toenail dysplasia Short distal phalanx of finger Delayed myelination Large fleshy ears Prominent occiput Hoarse cry Vertical nystagmus Hydrocele testis Limb hypertonia Anal stenosis Cystic hygroma Cupped ear Focal-onset seizure Overfolded helix Focal impaired awareness seizure Tented upper lip vermilion Amblyopia Choreoathetosis Open mouth Congenital diaphragmatic hernia Abnormality of ganglioside metabolism



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