[…] of the fingers and thumbs (specifically the distal phalanges ), pes planus (fallen arches ), an ulnar drift affecting the fingers of both hands (an unusual, yet correctible feature where the fingers slant toward the ulnar side of the forearm ), joint pain [en.wikipedia.org]

Use: Diagnose tyrosinemia; monitor tyrosine levels after tyrosinemia diagnosis and in phenylketonuric patients who are receiving treatment Individuals Suitable for Testing: Those with liver disease, eye symptoms of lacrimation, photophobia, redness, pain [questdiagnostics.com]

The Physician's Assistant at my MD told me last week it may be an "atypical migraine", which is a migraine without the pain but with other symptoms such as this. It drives me crazy, this smell! [medhelp.org]

Mental and motor retardation) Citrullinemia Type 1 (Lethargy and abnormal behaviour) Cystathioninuria (Liver dysfunction) Xanthurenic aciduria (Mental retardation ) Very Long chain acyl-CoA dehydrogenase deficiency (Muscle weakness, consistent muscle pain [genetics-tests.com]

SNOMED CT (R) was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO." [doctor.am]

[…] the adductor pollicis ). [1] [2] Behavioral, developmental and other anomalies often include: hypersexuality, perceptual hypersensitivity, emotional lability ( mood swings ), [3] hyperaggressive behavior; [2] hypertelorism (widely-set eyes ), optical strabismus [en.wikipedia.org]

Arachnodactyly,hyper mobility of joints,subluxation of ocular lenses, cataract,coloboma,megalocornea,strabismus, nystagmus,high-arched palate,pectus carinatum, scoliosis and thoracic aneurysms ) m85 Mucopolysaccharidosis type VIII ( Murdock's syndrome [genetic_letters.tripod.com]

Methylation Analysis a Test Code: 11369 Clinical Use: Diagnose Prader-Willi or Angelman syndrome Individuals Suitable for Testing: Those with severe hypotonia, poor feeding leading to gavage feeding, cryptorchidism (males), hypoplastic labia (females), strabismus [questdiagnostics.com]

Hereditary pellagra-like skin rash with temporary cerebellar ataxia. Constant renal amino-aciduria and other bizarre biochemical features. Lancet 1956; 2 : 421-8. 2. Verma I S. Inborn errors of metabolism and metabolic disorders. [ijdvl.com]

rash, short stature, cerebellar-like ataxia; those with diagnosed tryptophanuria Tyrosine Test Code: 902 Clinical Use: Diagnose tyrosinemia; monitor tyrosine levels after tyrosinemia diagnosis and in phenylketonuric patients who are receiving treatment [questdiagnostics.com]

[…] into the palm, related to contracture of the adductor pollicis ). [1] [2] Behavioral, developmental and other anomalies often include: hypersexuality, perceptual hypersensitivity, emotional lability ( mood swings ), [3] hyperaggressive behavior; [2] hypertelorism [en.wikipedia.org]

[…] paroxysmal laughter, light hair/skin pigmentation FISH, Cri du chat a Test Code: 14614(X) Clinical Use: Diagnose Cri du chat syndrome Individuals Suitable for Testing: Those with cat-like cry, severe psychomotor dysfunction, microencephaly, round face, hypertelorism [questdiagnostics.com]

These findings suggest a possible congenital defect in the metabolic pathway where tryptophan is converted to kynurenine. [3] Genetics [ edit ] Familial Hypertryptophanemia has an autosomal recessive pattern of inheritance. [en.wikipedia.org]

However, the signs and symptoms of Laron syndrome vary, even among affected members of the same family.Studies suggest that people with Laron syndrome have a significantly reduced risk of cancer and type 2 diabetes. [icdlist.com]

Any useful suggestions? Hey me too.. two weeks ago I asked my daughter in law if she could smell fumes coming from her truck.. this was while I was IN the truck. I have had this smell now for 2 weeks, it comes and goes. [medhelp.org]

Congenital tryptophanuria has skin changes suggestive of pellagra and episodic ataxia. Lowe syndrome is associated with disorders of eye lens and kidneys. [atulchoube.wordpress.com]

Despite the heterogeneity of individual biological results, the impulsive behavior subjects in this study seemed to present abnormalities in neurotransmitter precursors. [ncbi.nlm.nih.gov]

[…] is likely to improve her mood 3 ) If she recovers, relapse is unlikely 4 ) The risk of suicide is low 5 ) Underlying physical illness is unlikely 37) In obsessional neurosis: 1 ) patients have good insight 2 ) patients often act on their aggressive impulses [greekmeds.gr]

behavior problems Chromosome Analysis, Follow-up Test Code: 10708(X) Clinical Use: Diagnose a chromosomal abnormality Individuals Suitable for Testing: Family members of individuals with a known chromosomal abnormality Chromosomal Microarray, Postnatal [questdiagnostics.com]

behaviors, seizures, and coma) Defects of biopterin cofactor biosynthesis (BIOPT BS) (Developmental delays,Seizures (known as epilepsy), behavioral troubles) Defects of biopterin cofactor regeneration (BIOPT REG)(Intellectual disability,movement disorders [genetics-tests.com]

swings ), [3] hyperaggressive behavior; [2] hypertelorism (widely-set eyes ), optical strabismus (misalignment) and myopia. [1] [2] Metabolically, hypertryptophanemia results in tryptophanuria and exhibits significantly elevated serum levels of tryptophan [en.wikipedia.org]

Huntington's disease, Dentate cerebellar ataxia, Familial Ataxia with macular degeneration, Familial intention tremor, ataxia, lipofuscinosis, Friedreichs ataxia, Hereditary ataxia (with intellectual retardation, choreoathetosis, and eunuchoidism), [cmdg.org]

Neurological signs, the commonest of which is cerebellar ataxia, appear later, may or may not accompany the rash and are usually transient and completely reversible. [ijdvl.com]

Ataxia Type 2 (ADCA2), Olivopontocerebellar Ataxia Type III (OPCA III), Hereditary Ataxia with Retinal Degeneration (Marie Ataxia] Spondyloepiphyseal dysplasia congenita (SEDC). [neurometplus.com]

Individuals Suitable for Testing: Those with dysmorphic features, birth defects, growth abnormalities, and/or behavior problems and those at risk of carrying fragile X abnormality [questdiagnostics.com]

problems and hyperactivity) D-glyceric ackluria (Poor weight gain) Lysinurla (Mental retardation) Hawkinsunuria (Hepatic dysfunction) Type D: These disorders are more severe and may significantly Impact the babies health even with early diagnosis. [genetics-tests.com]

NMS is characterized by fever, muscular rigidity, altered mental status, and autonomic dysfunction. [greekmeds.gr]