Delayed speech and language development, and Vomiting

Diseases related with Delayed speech and language development and Vomiting

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Vomiting that can help you solving undiagnosed cases.


Top matches:

Medium match EPILEPSY, PYRIDOXINE-DEPENDENT; EPD

Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types, usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. The dependence is permanent, and the interruption of daily pyridoxine supplementation leads to the recurrence of seizures. Some patients show developmental delay. The prevalence is estimated at 1 in 400,000 to 700,000 (Bennett et al., 2005).

EPILEPSY, PYRIDOXINE-DEPENDENT; EPD Is also known as pyridoxine-dependent epilepsy;pde, pyridoxine dependency with seizures, aasa dehydrogenase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM

More info about EPILEPSY, PYRIDOXINE-DEPENDENT; EPD

Medium match ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY

gene (11q25).

ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY Is also known as ibd deficiency, acyl-coa dehydrogenase family, member 8, deficiency of, acad8 deficiency;isobutyric aciduria

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia


SOURCES: GARD MONDO ORPHANET OMIM SCTID MESH UMLS NCIT

More info about ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY

Medium match GALACTOSE EPIMERASE DEFICIENCY

Epimerase-deficiency galactosemia was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells (Gitzelmann, 1972). Fibroblasts, liver, phytohemagglutinin-stimulated leukocyes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal GALT activity, presented with symptoms reminiscent of classic galactosemia and demonstrated severely impaired GALE activity in both red blood cells and fibroblasts (Holton et al., 1981). This form was designated 'generalized' epimerase deficiency. Openo et al. (2006) demonstrated that epimerase deficiency is in fact not a binary condition but is, rather, a continuum disorder.GALE encodes the third enzyme in the Leloir pathway of galactose metabolism. Galactosemia I is classic galactosemia (OMIM ), caused by deficiency of the second enzyme in the Leloir pathway, galactose-1-phosphate uridylyl-transferase (GALT ). Galactosemia II (OMIM ) is caused by deficiency of the first enzyme in the Leloir pathway, galactokinase (GALK ).

GALACTOSE EPIMERASE DEFICIENCY Is also known as gale deficiency, galactosemia iii, udp-galactose-4-epimerase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET SCTID OMIM UMLS

More info about GALACTOSE EPIMERASE DEFICIENCY

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Other less relevant matches:

Medium match STRIATONIGRAL DEGENERATION, INFANTILE; SNDI

Bilateral striatal necrosis (BSN) encompasses a heterogeneous group of neurologic disorders with different causation. Familial infantile striatal degeneration is rare and can be inherited as an autosomal recessive or mitochondrial (see {500003}) disorder. The familial form has an insidious onset and a slowly progressive course; the sporadic form is associated with acute systemic illness. Many features of BSN overlap with Leigh syndrome (OMIM ) and certain metabolic disorders, including glutaric acidemia I (OMIM ) and methylmalonic aciduria (OMIM ). See also Aicardi-Goutieres syndrome (OMIM ) (Mito et al., 1986; De Meirleir et al., 1995). Genetic Heterogeneity of Stiatonigral DegenerationChildhood-onset striatonigral degeneration (OMIM ) is caused by mutation in the VAC14 gene (OMIM ) on chromosome 16q22.See also adult-onset autosomal dominant striatal degeneration (ADSD ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13.

STRIATONIGRAL DEGENERATION, INFANTILE; SNDI Is also known as infantile bilateral striatal necrosis;ibsn, bilateral striatal necrosis, infantile, striatal degeneration, familial

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET

More info about STRIATONIGRAL DEGENERATION, INFANTILE; SNDI

Medium match AMINOACYLASE 1 DEFICIENCY; ACY1D

Aminoacylase-1 deficiency (ACY1D) is a rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of specific N-actyl amino acids. Most patients show neurologic abnormalities such as intellectual disability, seizures, hypotonia, and motor delay (summary by Ferri et al., 2014).

AMINOACYLASE 1 DEFICIENCY; ACY1D Is also known as ;acy1d; n-acyl-l-amino acid amidohydrolase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: EFO SCTID UMLS MESH GARD MONDO OMIM ORPHANET

More info about AMINOACYLASE 1 DEFICIENCY; ACY1D

Medium match MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

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


SOURCES: UMLS OMIM MONDO GARD

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

Medium match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P

(13q14.3).

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P Is also known as ;cdg syndrome type ip; cdg-ip; cdg1p; carbohydrate deficient glycoprotein syndrome type ip; congenital disorder of glycosylation type 1p; congenital disorder of glycosylation type ip

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS OMIM SCTID MONDO ORPHANET GARD

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P

Medium match HYPERLYSINEMIA, TYPE I

Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant (summary by Tondo et al., 2013; Houten et al., 2013).The AASS gene encodes a bifunctional enzyme: lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase. In hyperlysinemia type I, both enzymatic functions of AASS are defective; in hyperlysinemia type II, also known as saccharopinuria (OMIM ), some of the first enzymatic function is retained (Cox, 1985; Cox et al., 1985).

HYPERLYSINEMIA, TYPE I Is also known as lysine:alpha-ketoglutarate reductase deficiency, alpha-aminoadipic semialdehyde synthase deficiency, lysine intolerance, l-lysine:nad-oxido-reductase deficiency;hyperlysinemia type i; lysine alpha-ketoglutarate reductase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM UMLS ORPHANET

More info about HYPERLYSINEMIA, TYPE I

Medium match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2

Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2 Is also known as ;bola3 deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM UMLS MONDO DOID

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2

Medium match LESCH-NYHAN SYNDROME; LNS

LESCH-NYHAN SYNDROME; LNS Is also known as hypoxanthine guanine phosphoribosyltransferase 1 deficiency, hprt1 deficiency, hprt deficiency, hprt deficiency, complete

Related symptoms:

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


SOURCES: ORPHANET OMIM ICD10

More info about LESCH-NYHAN SYNDROME; LNS

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Vomiting

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Vomiting. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Milia Hearing impairment Sensorineural hearing impairment Absent speech Infantile onset Spasticity Failure to thrive Intellectual disability, mild Ataxia Opisthotonus Hypertonia Myoclonus Anemia

Rare Symptoms - Less than 30% cases


Nystagmus Coma Optic atrophy Cognitive impairment Dysphagia Abnormality of extrapyramidal motor function Cerebellar atrophy Dystonia Developmental regression Nausea and vomiting Dysarthria Athetosis Choreoathetosis Nausea Motor delay Flexion contracture Hemiplegia Encephalopathy Hyperactivity Intellectual disability, moderate Aciduria Muscular hypotonia of the trunk Myopathy Pica Generalized seizures Hepatomegaly Feeding difficulties Respiratory distress Gout Dilated cardiomyopathy Cardiomyopathy Type I transferrin isoform profile Spastic tetraparesis Abnormality of the genitourinary system Optic nerve hypoplasia Ectopia lentis Phonophobia Short attention span Migraine with aura Borderline personality disorder Episodic ataxia Cystinuria Drowsiness Personality disorder Tetraparesis Migraine without aura Strabismus Temperature instability Scaling skin Neonatal hypotonia High forehead Retrognathia Long philtrum Scoliosis Scintillating scotoma Microcephaly Rigidity Abnormality of the nervous system Transient unilateral blurring of vision Poor speech Asthenia Inverted nipples Leukodystrophy Episodic vomiting Proximal placement of thumb Clinodactyly Nephropathy Nephrolithiasis Clumsiness Spastic gait Cerebral palsy Finger clinodactyly Self-injurious behavior Clinodactyly of the 5th finger Hyperuricemia Dyslexia Megaloblastic anemia Self-mutilation Focal dystonia Testicular atrophy Hyperuricosuria Excessive purine production X-linked recessive inheritance Hyperreflexia Normochromic anemia Lethargy Hyperlysinuria Oroticaciduria Hyperlysinemia Visual impairment Respiratory failure Hypertrophic cardiomyopathy Lactic acidosis Death in infancy Short stature Epileptic encephalopathy Restlessness Poor head control Malnutrition Hyperglycinemia Decreased activity of the pyruvate dehydrogenase complex Decreased activity of mitochondrial respiratory chain Nonketotic hyperglycinemia Loss of consciousness Heterogeneous Blurred vision Abnormality of the eye Aminoaciduria Delayed gross motor development Hypergalactosemia Galactosuria Impairment of galactose metabolism Clonus Abnormality of eye movement Jaundice Gliosis Neuronal loss in central nervous system Neurodegeneration Involuntary movements Pendular nystagmus Developmental stagnation Abnormality of the basal ganglia Weight loss Intellectual disability, severe Muscle weakness Generalized tonic seizures Abnormality of metabolism/homeostasis Acidosis Generalized myoclonic seizures Abdominal distention Generalized tonic-clonic seizures Status epilepticus Neonatal respiratory distress Fetal distress Splenomegaly Prenatal movement abnormality Pulmonic stenosis Dehydration Decreased plasma carnitine Peripheral pulmonary artery stenosis Growth delay Cataract Hypertelorism Wide nasal bridge Severe hearing impairment Confusion Dysmetria Stroke Paresthesia Abnormal cerebellum morphology Vertigo Migraine Sensory impairment Apraxia Photophobia Intention tremor Hemiparesis Diplopia Tinnitus Scotoma Dysphasia Aphasia Autistic behavior Headache Cerebral atrophy Delayed CNS myelination Dilatation Apnea Febrile seizures Inability to walk Absence seizures Syringomyelia Limb hypertonia Acute encephalopathy Gait ataxia Autosomal dominant inheritance Edema Fever Tremor Blindness Behavioral abnormality Depressivity Podagra



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