3308
(4.0%)

Beta-ketothiolase deficiency

Agitation

Autosomal recessive inheritance

A rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.

3308
(4.0%)

Subacute sclerosing leukoencephalitis

Nephrotic syndrome

Autosomal recessive inheritance

A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.

3308
(4.0%)

Ornithine transcarbamylase deficiency

Blindness

X-linked recessive inheritance

Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.

3308
(4.0%)

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Chorioretinal atrophy

Autosomal recessive inheritance

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction.

3308
(4.0%)

Primary hepatic neuroendocrine carcinoma

Ptosis

Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed.

3308
(4.0%)

Intermediate uveitis

Proteinuria

3308
(4.0%)

Early-onset schizophrenia

Behavioral abnormality

A rare, neurologic disease characterized by an early onset of positive and negative symptoms of psychosis that impact development and cognitive functioning. Clinical manifestation commonly include premorbid features of autism spectrum disorders, attention deficits, neurodevelopmental delays, and behavioral abnormalities. After the onset of psychotic symptoms, other comorbidities are also common, including obsessive-compulsive disorder, major depressive disorder, attention deficit hyperactivity disorder, expressive and receptive language disorders, auditory processing deficits, and executive functioning deficits.

3308
(4.0%)

Mitochondrial DNA-associated Leigh syndrome

Abnormal renal tubule morphology

Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.

3308
(4.0%)

VIPoma

Diabetes mellitus

VIPoma is an extremely rare type of pancreatic neuroendocrine tumor (see this term) that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).

3308
(4.0%)

Hypokalemic periodic paralysis

Gynecomastia

A rare disorder characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.