Cryptorchidism, and Generalized seizures

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6

MRD6 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity. Additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by Platzer et al., 2017).

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

SOURCES: OMIM DOID MONDO UMLS

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

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

SOURCES: MESH MONDO OMIM DOID UMLS

Medium match PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6 Is also known as upd(6)pat

• Micrognathia
• Cryptorchidism
• High palate
• Hepatomegaly
• Intrauterine growth retardation

SOURCES: ORPHANET

Low match PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1

Periventricular nodular heterotopia is a disorder of neuronal migration in which neurons fail to migrate appropriately from the ventricular zone to the cortex during development, resulting in the formation of nodular brain tissue lining the ventricles. Most affected individuals with the X-linked form are female, while hemizygous males tend to die in utero. Affected females usually present with epilepsy, but have normal intelligence. Additional features include defects of the cardiovascular system, such as patent ductus arteriosus, bicuspid aortic valve, and dilation of the sinuses of Valsalva or the thoracic aorta (summary by Fox et al., 1998). Several patients with PVNH and mutations in the FLNA gene have been reported with a spectrum of connective tissue abnormalities characterized by combinations of vascular, cardiac, cutaneous, and joint-related symptoms (summary by Reinstein et al., 2013). Genetic Heterogeneity of Periventricular Nodular HeterotopiaPeriventricular nodular heterotopia is a genetically heterogeneous condition: see also PVNH2 (OMIM ), caused by mutation in the ARFGEF2 gene (OMIM ) on chromosome 20q13; PVNH3 (OMIM ), associated with anomalies of 5p; PVNH5 (OMIM ), associated with deletions of chromosome 5q; PVNH6 (OMIM ), caused by mutation in the ERMARD gene (OMIM ) on chromosome 6q27; and PVNH7 (OMIM ), caused by mutation in the NEDD4L gene (OMIM ) on chromosome 18q21.The form of PVNH that was previously designated the Ehlers-Danlos variant (PVNH4) is now considered to be the same as X-linked PVNH1.

PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1 Is also known as heterotopia, periventricular, x-linked dominant, heterotopia, familial nodular, nodular heterotopia, bilateral periventricular;nhbp;bpnh, heterotopia, periventricular, ehlers-danlos variant, periventricular nodular heterotopia 4, formerly;pvnh4, formerly

• Intellectual disability
• Seizures
• Global developmental delay
• Pica
• Hypertelorism

SOURCES: UMLS GARD MONDO SCTID OMIM

Low match KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION

KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION Is also known as 9q subtelomeric deletion syndrome; 9qstds; kleefstra syndrome due to 9q subtelomeric deletion; kleefstra syndrome due to del(9)(q34); kleefstra syndrome due to monosomy 9q34

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

SOURCES: UMLS SCTID ORPHANET

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR Is also known as snyder-robinson mental retardation syndrome;srs;snyder-robinson syndrome

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

SOURCES: SCTID MESH MONDO UMLS ORPHANET OMIM GARD DOID

Low match MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME; MEDS

MEDS is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes (summary by Poulton et al., 2011).

MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME; MEDS Is also known as ;

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

SOURCES: OMIM UMLS ORPHANET MONDO

Low match NICOLAIDES-BARAITSER SYNDROME; NCBRS

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

NICOLAIDES-BARAITSER SYNDROME; NCBRS Is also known as sparse hair and mental retardation, nbs;nicolaides-baraitser syndrome

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

SOURCES: SCTID ORPHANET MESH OMIM MONDO GARD UMLS

Low match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as mopd types i and iii; microcephalic osteodysplastic primordial dwarfism, taybi-linder type; primordial microcephalic dwarfism, crachami type; taybi-linder syndrome

• Intellectual disability
• Seizures
• Global developmental delay
• Microcephaly
• Micrognathia

SOURCES: ORPHANET

Low match MENKES DISEASE

Menkes disease is an X-linked recessive disorder characterized by generalized copper deficiency. The clinical features result from the dysfunction of several copper-dependent enzymes.De Bie et al. (2007) provided a detailed review of the molecular pathogenesis of Menkes disease.

MENKES DISEASE Is also known as mk;mnk, menkes syndrome, kinky hair disease, steely hair disease, copper transport disease;kinky hair disease; kinky hair syndrome; md; mk; mnk; menkes syndrome; steely hair disease; steely hair syndrome; trichopoliodystrophy; x-linked copper deficiency

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

SOURCES: MESH DOID NCIT OMIM MONDO UMLS SCTID ORPHANET GARD