Growth delay, and Focal seizures, afebril

Diseases related with Growth delay and Focal seizures, afebril

In the following list you will find some of the most common rare diseases related to Growth delay and Focal seizures, afebril that can help you solving undiagnosed cases.

Top matches:

TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME Is also known as tach syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MENDELIAN

More info about TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 6; SCKL6

Other less relevant matches:

Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).BFIS1 has a slightly later onset than BFIS3, while benign neonatal seizures (see BFNS1, {121200}) has a slightly earlier onset.

SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3 Is also known as bfic3|bfnis|convulsions, benign familial infantile, 3|seizures, benign familial neonatal-infantile

Related symptoms:

  • Seizures
  • Fever
  • Apnea
  • Focal-onset seizure
  • Febrile seizures


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3

Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.

INFANTILE CONVULSIONS AND CHOREOATHETOSIS Is also known as paroxysmal kinesigenic dyskinesia and infantile convulsions|icca syndrome|pkd/ic|infantile convulsions and paroxysmal choreoathetosis, familial|paroxysmal kinesigenic dyskinesia with infantile convulsions

Related symptoms:

  • Seizures
  • Ataxia
  • Dystonia
  • Anxiety
  • Apnea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about INFANTILE CONVULSIONS AND CHOREOATHETOSIS

Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by Weber et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).Benign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA ) and paroxysmal kinesigenic choreoathetosis (EKD1 ).

SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 Is also known as bfic2|convulsions, benign familial infantile, 2

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Pallor
  • Generalized tonic-clonic seizures
  • Dyskinesia


SOURCES: MESH OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2

Phosphohydroxylysinuria is characterized by elevated phosphohydroxylysine in the urine. There is no clinical phenotype associated with this finding other than the urinary metabolites. This was confirmed by population genetic studies performed by Veiga-da-Cunha et al. (2013) (Hamosh, 2013).

Related symptoms:

  • Seizures
  • Ataxia
  • Growth delay
  • Abnormality of the nervous system
  • Cyanosis


SOURCES: OMIM MENDELIAN

More info about PHOSPHOHYDROXYLYSINURIA; PHLU

The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.

5Q35 MICRODUPLICATION SYNDROME Is also known as dup(5)(q35)|trisomy 5q35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about 5Q35 MICRODUPLICATION SYNDROME

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertonia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE; MCPH22

Top 5 symptoms//phenotypes associated to Growth delay and Focal seizures, afebril

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Cyanosis Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Focal seizures, afebril. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Focal-onset seizure Ataxia

Rare Symptoms - Less than 30% cases

Myopia Choreoathetosis Postnatal growth retardation Behavioral abnormality Optic atrophy Febrile seizures Focal impaired awareness seizure Normal interictal EEG Dyskinesia Migraine Generalized-onset seizure Apnea Developmental regression Hypertonia Dystonia Generalized hypotonia Intrauterine growth retardation Abnormality of mucopolysaccharide metabolism Short digit Anisopoikilocytosis Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Morphological abnormality of the central nervous system Obstructive lung disease J-shaped sella turcica Abnormality of the optic disc Hyperplasia of the maxilla Hypochromic anemia Thoracolumbar kyphosis Inspiratory stridor Increased mean corpuscular volume Communicating hydrocephalus Beaking of vertebral bodies Limb hypertonia Edema of the lower limbs Abnormality of the skull Insomnia Protuberant abdomen Distal arthrogryposis Protruding tongue Pericardial effusion Dermatan sulfate excretion in urine Intervertebral space narrowing Paroxysmal choreoathetosis Muscle fibrillation Paroxysmal dystonia Paroxysmal dyskinesia Writer's cramp Stereotypy Involuntary movements Pallor Generalized tonic-clonic seizures Loss of consciousness Anxiety Abnormality of the nervous system Generalized tonic-clonic seizures with focal onset Atonic seizures Progressive neurologic deterioration Dysplastic aortic valve Cerebral atrophy Delayed skeletal maturation Recurrent upper respiratory tract infections Brain atrophy Specific learning disability Failure to thrive Fever Motor delay Delayed speech and language development Absence seizures Abnormality of nasopharyngeal adenoids Localized skin lesion Heart murmur Recurrent otitis media Increased intracranial pressure Clumsiness Autonomic bladder dysfunction Abnormality of ocular smooth pursuit Vertical supranuclear gaze palsy Positive Romberg sign Abnormality of the basal ganglia Upper motor neuron dysfunction Spastic dysarthria Impaired vibration sensation in the lower limbs Postural tremor CNS hypomyelination Oligodontia Drooling Hypogonadotrophic hypogonadism Leukodystrophy Intention tremor High myoinositol in brain by MRS Intellectual disability, mild Nystagmus Spasticity Peripheral neuropathy Hyperreflexia Dysphagia Hypoplasia of the corpus callosum Babinski sign Hypodontia Cerebellar hypoplasia Cerebral cortical atrophy Deeply set eye Delayed puberty Dysmetria Delayed eruption of teeth Impaired distal proprioception Hearing impairment Tachypnea Limitation of joint mobility Hepatosplenomegaly Aggressive behavior Joint stiffness Tachycardia Ascites Macroglossia Abnormality of the cardiovascular system Coarse facial features Mitral valve prolapse Pulmonary arterial hypertension Mitral regurgitation Abnormality of the face Thickened skin Progressive hearing impairment Umbilical hernia Kyphoscoliosis Low-set ears Short neck Depressed nasal bridge Hepatomegaly Macrocephaly Frontal bossing Abnormality of the skeletal system Anteverted nares Edema Dyspnea Kyphosis Inguinal hernia Prominent forehead Hyperactivity Proptosis Mandibular prognathia Medulloblastoma


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