Delayed speech and language development, and Hypotension

Low match PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1

Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia (Polymeropoulos et al., 1996).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.

PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1 Is also known as parkinson disease 1, autosomal dominant lewy body

• Autosomal dominant inheritance
• Pica
• Spasticity
• Delayed speech and language development
• Hyperreflexia

SOURCES: DOID UMLS OMIM MESH MONDO

Low match ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR

Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (OMIM ), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013).See also {300858} for a phenotypically similar disorder that shows X-linked inheritance.

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

SOURCES: OMIM UMLS GARD MONDO

Low match OBESITY DUE TO SIM1 DEFICIENCY

• Global developmental delay
• Cognitive impairment
• Obesity
• Attention deficit hyperactivity disorder
• Autistic behavior

SOURCES: ORPHANET

Low match HYDROXYKYNURENINURIA

Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.

HYDROXYKYNURENINURIA Is also known as xanthurenic aciduria, kynureninase deficiency, partial;kynureninase deficiency; xanthurenic aciduria

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Hearing impairment
• Ataxia

SOURCES: MONDO GARD SCTID MESH ORPHANET OMIM

Low match NEPHRONOPHTHISIS 18; NPHP18

Nephronophthisis-18 is an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients (summary by Failler et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

• Autosomal recessive inheritance
• Intellectual disability
• Strabismus
• Delayed speech and language development
• Hypertension

SOURCES: DOID MONDO UMLS OMIM

Low match AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

AADC deficiency is an autosomal recessive inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency (Abeling et al., 2000). The disorder is clinically characterized by vegetative symptoms, oculogyric crises, dystonia, and severe neurologic dysfunction, usually beginning in infancy or childhood (summary by Brun et al., 2010).

AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY Is also known as aadc deficiency, dopa decarboxylase deficiency, ddc deficiency;aadc deficiency

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

SOURCES: GARD SCTID ORPHANET MESH MONDO DOID NCIT OMIM

Low match DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME

DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME Is also known as david syndrome

• Global developmental delay
• Failure to thrive
• Fatigue
• Alopecia
• Nail dystrophy

SOURCES: ORPHANET

Low match INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA

Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.

INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA Is also known as neuropathy, congenital sensory, with anhidrosis, hereditary sensory and autonomic neuropathy iv;hsan4, hsan iv, familial dysautonomia, type ii;cip-anhidrosis syndrome; congenital insensitivity to pain-anhidrosis syndrome; hsan4; hereditary sensory and autonomic neuropathy type iv

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

SOURCES: UMLS DOID OMIM ORPHANET GARD MONDO NCIT SCTID

Low match FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS

Jacquemont et al. (2007) provided a review of fragile X syndrome, which they characterized as a neurodevelopmental disorder, and FXTAS, which they characterized as a neurodegenerative disorder. Amiri et al. (2008) provided a review of FXTAS and noted that the pathogenesis of the disorder is distinct from that in fragile X syndrome. FXTAS results form a toxic gain of function of FMR1 RNA, whereas fragile X syndrome results from a loss of FMR1 function.The penetrance of FXTAS in male carriers aged 50 years and over, ascertained through families with a fragile X syndrome proband, is at least 33% (Hagerman and Hagerman, 2004); its penetrance in female carriers is approximately 5-10% (Greco et al., 2008).

FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS Is also known as ;fxtas syndrome

• Intellectual disability
• Seizures
• Global developmental delay
• Hearing impairment
• Ataxia

SOURCES: NCIT SCTID UMLS DOID ORPHANET MONDO OMIM MESH

Low match BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal, hyperprostaglandin e syndrome 2

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: MONDO UMLS DOID OMIM MESH SCTID GARD