Delayed speech and language development, and Limb undergrowth

Low match VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2; VCRL2

VCRL2 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017).For a discussion of genetic heterogeneity of VCRL, see VCRL1 (OMIM ).

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2; VCRL2 Is also known as congenital nad deficiency disorder 2, kynureninase deficiency, complete

• Microcephaly
• Delayed speech and language development
• Patent ductus arteriosus
• Syndactyly
• Narrow chest

SOURCES: OMIM

Low match SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

• Autosomal recessive inheritance
• Short stature
• Cryptorchidism
• Delayed speech and language development
• Brachydactyly

SOURCES: MONDO UMLS OMIM DOID

Low match WEISSENBACHER- ZWEYMULLER SYNDROME

Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.

WEISSENBACHER- ZWEYMULLER SYNDROME Is also known as heterozygous osmed; heterozygous otospondylomegaepiphyseal dysplasia; pierre robin sequence-fetal chondrodysplasia syndrome; pierre robin syndrome-fetal chondrodysplasia syndrome

• Hypertelorism
• Micrognathia
• Muscular hypotonia
• Cleft palate
• Depressed nasal bridge

SOURCES: MESH GARD UMLS ORPHANET SCTID MONDO DOID

Low match HUNTINGTON DISEASE; HD

Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dystonia, incoordination, cognitive decline, and behavioral difficulties. There is progressive, selective neural cell loss and atrophy in the caudate and putamen. Walker (2007) provided a detailed review of Huntington disease, including clinical features, population genetics, molecular biology, and animal models.

HUNTINGTON DISEASE; HD Is also known as huntington chorea;huntington chorea

• Autosomal dominant inheritance
• Seizures
• Pica
• Ataxia
• Cognitive impairment

SOURCES: ORPHANET OMIM UMLS ICD10 SCTID

Low match OSTEOGLOPHONIC DYSPLASIA; OGD

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

OSTEOGLOPHONIC DYSPLASIA; OGD Is also known as osteoglophonic dwarfism;osteoglophonic dwarfism

• Autosomal dominant inheritance
• Intellectual disability
• Pica
• Scoliosis
• Hypertelorism

SOURCES: OMIM SCTID GARD UMLS MONDO ORPHANET MESH

Low match CHROMOSOME 17q12 DELETION SYNDROME

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

CHROMOSOME 17q12 DELETION SYNDROME Is also known as ;del(17)(q12); monosomy 17q12

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

SOURCES: UMLS DOID ORPHANET MONDO GARD OMIM

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3

Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3 Is also known as glycosylphosphatidylinositol biosynthesis defect 7;gpibd7;congenital disorder of glycosylation due to pigt deficiency; mcahs type 3; multiple congenital anomalies-hypotonia-seizures syndrome type 3; pigt-cdg

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

SOURCES: MONDO DOID ORPHANET OMIM UMLS

Low match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 Is also known as glycosylphosphatidylinositol biosynthesis defect 12;gpibd12

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

SOURCES: MONDO UMLS OMIM

Low match WIEDEMANN-STEINER SYNDROME; WDSTS

Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.

WIEDEMANN-STEINER SYNDROME; WDSTS Is also known as hairy elbows, short stature, facial dysmorphism, and developmental delay;hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

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

SOURCES: GARD ORPHANET MONDO UMLS MESH OMIM

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E

Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin.For a general discussion of CDGs, see CDG Ia (OMIM ) and CDG Ib (OMIM ).

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E Is also known as cdg ie;cdgie;cdg syndrome type ie; cdg-ie; cdg1e; carbohydrate deficient glycoprotein syndrome type ie; congenital disorder of glycosylation type 1e; congenital disorder of glycosylation type ie; dol-p-mannosyltransferase deficiency

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

SOURCES: NCIT SCTID ORPHANET MONDO GARD UMLS OMIM MESH