Ataxia, and High palate

Diseases related with Ataxia and High palate

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


Top matches:

Medium match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY


Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23|spinocerebellar ataxia autosomal recessive type 23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY

Medium match PERRAULT SYNDROME 5; PRLTS5


Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about PERRAULT SYNDROME 5; PRLTS5

Medium match SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

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Other less relevant matches:

Medium match PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME


Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Medium match ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT


Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

Medium match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E


Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E Is also known as cmt2e|charcot-marie-tooth neuropathy, type 2e

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E

Medium match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

Medium match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Medium match SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50


Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Verkerk et al., 2009).

SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 Is also known as cerebral palsy, spastic quadriplegic, 3, formerly|cpsq3, formerly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50

Medium match NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL


NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

Top 5 symptoms//phenotypes associated to Ataxia and High palate

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Gait ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and High palate. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Scoliosis Cerebellar atrophy Peripheral neuropathy Feeding difficulties Abnormal facial shape Areflexia Pes cavus Strabismus Delayed speech and language development Delayed ability to walk Distal sensory impairment Narrow forehead Dysmetria Short stature Wide nasal bridge Spasticity Inability to walk Microcephaly Motor delay

Rare Symptoms - Less than 30% cases


Absent speech Tapered finger Chorea Dysarthria Short philtrum Broad-based gait Abnormality of the foot Ventriculomegaly Unsteady gait Muscle weakness Flexion contracture Cerebral atrophy Talipes equinovarus Pes planus Difficulty walking Distal muscle weakness Arachnodactyly Impaired vibratory sensation Visual impairment Thin upper lip vermilion Cognitive impairment Sensory axonal neuropathy Hypotelorism Nystagmus Sensorineural hearing impairment Hyporeflexia Low-set ears Sensory impairment Peripheral axonal neuropathy Downslanted palpebral fissures Ptosis Gliosis Decreased circulating follicle stimulating hormone level Eunuchoid habitus Alobar holoprosencephaly Decreased circulating luteinizing hormone level Olfactory lobe agenesis Hypothalamic gonadotropin-releasing hormone deficiency Synophrys Leydig cell insensitivity to gonadotropin Bimanual synkinesia Total anosmia Aggressive behavior Growth delay Dystonia Everted lower lip vermilion Hypertelorism Micrognathia Bilateral renal agenesis Testicular atrophy Delayed myelination Hypogonadotrophic hypogonadism Delayed puberty Abnormality of eye movement Facial asymmetry Oral cleft Ichthyosis Renal agenesis Decreased testicular size Gynecomastia Holoprosencephaly Microphallus Azoospermia Anosmia Unilateral renal agenesis Bilateral cryptorchidism Anodontia Sparse pubic hair Hyposmia Abnormal renal morphology Cerebral palsy Intrauterine growth retardation Drooling Coarse facial features Aspiration pneumonia Babinski sign Bruxism Pneumonia Cleft lip Progressive spasticity Mandibular prognathia Neonatal hypotonia Joint hypermobility Wide mouth Spastic paraplegia Abnormality of the cerebral white matter Adducted thumb Paraplegia Bulbous nose Infantile muscular hypotonia Tetraplegia Hypertonia Intellectual disability, severe Involuntary movements Esotropia Intellectual disability, progressive Epicanthus Aspiration Cerebellar hypoplasia Proteinuria Stage 5 chronic kidney disease Spastic tetraplegia Polymicrogyria Nephrotic syndrome Hypoplasia of the corpus callosum Glomerulosclerosis Wide nasal ridge Focal segmental glomerulosclerosis Minimal change glomerulonephritis Pseudobulbar signs Hyperreflexia Everted upper lip vermilion Facial hypotonia Abnormality of the eye Distal arthrogryposis Micropenis Dilated fourth ventricle Small hand Progressive cerebellar ataxia Epileptic encephalopathy Generalized-onset seizure Diplopia Cerebral visual impairment Incoordination Cerebellar vermis atrophy Failure to thrive Clinodactyly Long philtrum Abnormal heart morphology Constipation Upslanted palpebral fissure Joint laxity Abnormal cardiac septum morphology Poor speech Smooth philtrum Toe syndactyly Encephalopathy Triangular face Ophthalmoplegia Brachycephaly Narrow mouth Macrotia Deeply set eye Long face Thick lower lip vermilion Prominent supraorbital ridges Large hands Increased serum lactate Syndactyly Amenorrhea Primary amenorrhea Hypergonadotropic hypogonadism Abnormality of mitochondrial metabolism Gonadal dysgenesis Elevated circulating luteinizing hormone level Increased serum pyruvate Positive Romberg sign Wide nose Decreased nerve conduction velocity Hypogonadism Hammertoe Hyperkeratosis Facial palsy Paralysis Distal amyotrophy Split hand Foot dorsiflexor weakness Abnormality of the hand Congenital contracture Steppage gait Respiratory distress Decreased motor nerve conduction velocity Nemaline bodies Distal lower limb amyotrophy Increased connective tissue Ulnar claw Hypotrophy of the small hand muscles Cleft palate Cryptorchidism Myopathy Skeletal muscle atrophy Failure to thrive in infancy Arthrogryposis multiplex congenita Decreased number of peripheral myelinated nerve fibers Onion bulb formation Syringomyelia Chronic constipation Demyelinating peripheral neuropathy Abnormality of the skeletal system Respiratory insufficiency Camptodactyly Sensory neuropathy Impaired tactile sensation Hip dysplasia Joint contracture of the hand Sandal gap Poor head control Myopathic facies Long nose Narrow nasal bridge Impaired proprioception Sensory ataxia Low frustration tolerance



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