Delayed speech and language development, and Pulmonary arterial hypertension

Medium match CHROMOSOME 3q29 DELETION SYNDROME

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

CHROMOSOME 3q29 DELETION SYNDROME Is also known as microdeletion 3q29 syndrome;3q subtelomere deletion syndrome; 3qter deletion; del(3)(q29); monosomy 3q29; monosomy 3qter

• Autosomal dominant inheritance
• Intellectual disability
• Global developmental delay
• Pica
• Microcephaly

SOURCES: OMIM MONDO ORPHANET UMLS SCTID MESH GARD DOID

Medium match CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME

17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME Is also known as ;17q23.1-q23.2 microdeletion syndrome; del(17)(q23.1q23.2); monosomy 17q23.1-q23.2; monosomy 17q23.1q23.2

• Global developmental delay
• Short stature
• Hearing impairment
• Microcephaly
• Scoliosis

SOURCES: SCTID OMIM UMLS DOID GARD ORPHANET MONDO

Medium match ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL Is also known as ;haberland syndrome

• Intellectual disability
• Seizures
• Global developmental delay
• Pica
• Failure to thrive

SOURCES: ORPHANET SCTID MESH GARD OMIM UMLS MONDO NCIT

Medium match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1

Multiple mitochondrial dysfunctions syndrome is a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death (summary by Seyda et al., 2001). Genetic Heterogeneity of Multiple Mitochondrial Dysfunctions SyndromeSee also MMDS2 (OMIM ), caused by mutation in the BOLA3 gene (OMIM ) on chromosome 2p13; MMDS3 (OMIM ), caused by mutation in the IBA57 gene (OMIM ) on chromosome 1q42; MMDS4 (OMIM ), caused by mutation in the ISCA2 gene (OMIM ) on chromosome 14q24; and MMDS5 (OMIM ), caused by mutation in the ISCA1 gene (OMIM ) on chromosome 9q21.

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1 Is also known as mmds;nfu1 deficiency

• Autosomal recessive inheritance
• Global developmental delay
• Generalized hypotonia
• Failure to thrive
• Motor delay

SOURCES: DOID ORPHANET UMLS MONDO OMIM

Medium match LIPOYLTRANSFERASE 1 DEFICIENCY; LIPT1D

LIPOYLTRANSFERASE 1 DEFICIENCY; LIPT1D Is also known as ;

• Autosomal recessive inheritance
• Global developmental delay
• Generalized hypotonia
• Hypertension
• Infantile onset

SOURCES: ORPHANET MONDO UMLS OMIM

Medium match MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME

MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME Is also known as mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy;

• Autosomal dominant inheritance
• Global developmental delay
• Cryptorchidism
• Hypertension
• Edema

SOURCES: GARD ORPHANET MONDO UMLS OMIM

Medium match HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS

HUPRA syndrome is a severe autosomal recessive multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely (summary by Belostotsky et al., 2011).

HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS Is also known as hupra syndrome;hupra syndrome

• Autosomal recessive inheritance
• Global developmental delay
• Generalized hypotonia
• Failure to thrive
• Anemia

SOURCES: MONDO ORPHANET OMIM UMLS

Medium match SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM

SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM Is also known as chondrodysplasia, megarbane-dagher-melki type;

• Autosomal recessive inheritance
• Global developmental delay
• Short stature
• Generalized hypotonia
• Growth delay

SOURCES: MESH MONDO ORPHANET OMIM UMLS

Medium match PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; PASNA

PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; PASNA Is also known as ;apa with seizures and neurological abnormalities; aldosterone-secreting adenoma with seizures and neurological abnormalities; conn adenoma with seizures and neurological abnormalities

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Spasticity

SOURCES: ORPHANET MONDO UMLS OMIM

Medium match SYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

• Intellectual disability
• Global developmental delay
• Scoliosis
• Muscular hypotonia
• Ptosis

SOURCES: ORPHANET