Create issue ticket

2,496 Possible Causes for High Pitched Voice, Onset of Symptoms in First or Second Decade of Life, Psychomotor Retardation

  • Congenital Muscular Dystrophy

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels.[ncbi.nlm.nih.gov] Central nervous system (CNS) abnormalities associated with mental retardation are often present.[ncbi.nlm.nih.gov]

  • Dubowitz Syndrome

    Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[ncbi.nlm.nih.gov] The phenotypic spectrum is quite variable and ranges from normal growth and head circumference with mild psychomotor retardation and lack of eczema to a condition of severe[ncbi.nlm.nih.gov] Other notable features are a high-pitched voice, gastrointestinal irritation (presenting as diarrhea), the presence of eczema, genital disorders (cryptorchidism, hypospadias[symptoma.com]

    Missing: Onset of Symptoms in First or Second Decade of Life
  • Pfeiffer-Palm-Teller Syndrome

    Voice Annotation Sufficiency: ?[monarchinitiative.org] retardation Polydactyly myopia syndrome Polydactyly postaxial dental and vertebral Polydactyly postaxial with median cleft of upper lip Polydactyly postaxial Polydactyly[bioreference.net] Polydactyly cleft lip palate psychomotor retardation[?] Polydactyly myopia syndrome[?] Polydactyly postaxial dental and vertebral[?][encyclopedia.kids.net.au]

    Missing: Onset of Symptoms in First or Second Decade of Life
  • Bloom Syndrome

    Bloom syndrome listen (… SIN-drome) A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice,[cancer.gov] Behavioral observation can assess psychomotor retardation. Behavioral checklists such as the Vineland Adaptive Behavior Scales could be given to a parent to complete.[ncbi.nlm.nih.gov] People with Bloom syndrome are much smaller than average, and often have a high-pitched voice and characteristic facial features including a long, narrow face; small lower[hon.ch]

    Missing: Onset of Symptoms in First or Second Decade of Life
  • Laron Syndrome with Immunodeficiency

    Patients may have a high-pitched voice and present truncal obesity.[symptoma.com] retardation / learning disability - Mid-facial hypoplasia / short / small midface Occasional - Broad / bifid big toe - Dilated cerebral ventricles without hydrocephaly -[csbg.cnb.csic.es] The sibs showed the typical clinical features of Laron syndrome: they were very short and obese, had acromicria, small genitalia (in the boys), and a high-pitched voice.[cags.org.ae]

    Missing: Onset of Symptoms in First or Second Decade of Life
  • Seckel Syndrome

    She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.[termedia.pl] , psychomotor retardation, microcephaly, micrognathia, and abnormal/low-set ears; findings also present in the propositus.[ncbi.nlm.nih.gov] pitched voice 0001620 Percent of people who have these symptoms is not available through HPO 11 pairs of ribs 0000878 Abnormal finger flexion creases 0006143 Abnormality[rarediseases.info.nih.gov]

    Missing: Onset of Symptoms in First or Second Decade of Life
  • Mulibrey Nanism Syndrome

    pitched voice * Hypodontia of second bicuspid * Growth retardation Causes - Mulibrey Nanism syndrome Not supplied.[checkorphan.org] Patients have severe growth retardation but normal psychomotor development. Plasma VLCFA and liver peroxisomes are normal.[emedicine.medscape.com] The patient had short stature and high-pitched voice with the same characteristic craniofacial features as his sibling. Psychomotor development was normal.[academic.oup.com]

    Missing: Onset of Symptoms in First or Second Decade of Life
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    Intrauterine development Intrauterine growth retardation Neurologic Abnormality Developmental delay (mild-severe) Infarcts Moyamoya disease Multiple aneurysms Performance High-pitched[datagenno.com] Death usually occurs before 1 year of age due to intercurrent infections. [2], [3] Surviving infants suffer from recurrent apneas, seizures and psychomotor retardation.[jcnonweb.com] Frequent clinical manifestations are psychomotor retardation, dysmorphic facial features, congenital heart defects, and an increased incidence of hearing loss, infections,[bioinfo.na.iac.cnr.it]

    Missing: Onset of Symptoms in First or Second Decade of Life
  • Hallervorden-Spatz Syndrome

    There is an early onset classic form with symptoms of extrapyramidal disease beginning in the first decade of life and rapid progression to loss of ambulation in about 15[disorders.eyes.arizona.edu] Others with atypical disease may not have symptoms until the second or third decades.[disorders.eyes.arizona.edu]

    Missing: High Pitched Voice
  • Spinocerebellar Ataxia Type 20

    […] sounds 0001618 High pitched voice 0001620 Limb ataxia 0002070 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Palatal myoclonus 0010530 Postural tremor 0002174[rarediseases.info.nih.gov] retardation, language delay Laboratory findings Elevated 4-hydroxybutyric acid in plasma, urine, and CSF High free GABA in CSF Cerebellar atrophy on MRI Treatment L-carnitine[emedicine.medscape.com] […] who have these symptoms is not available through HPO Adult onset Symptoms begin in adulthood 0003581 Autosomal dominant inheritance 0000006 Dysphonia Inability to produce voice[rarediseases.info.nih.gov]

    Missing: Onset of Symptoms in First or Second Decade of Life

Similar symptoms