Delayed speech and language development, and Hyperinsulinemia

Medium match SEVERE EARLY-ONSET OBESITY-INSULIN RESISTANCE SYNDROME DUE TO SH2B1 DEFICIENCY

• Short stature
• Delayed speech and language development
• Obesity
• Aggressive behavior
• Hyperinsulinemia

SOURCES: ORPHANET

Medium match ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY; PELD

Progressive encephalopathy with or without lipodystrophy is a severe neurodegenerative disorder characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade. Patients may show a mild or typical lipodystrophic appearance (summary by Guillen-Navarro et al., 2013).

ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY; PELD Is also known as ;severe neurodegenerative syndrome due to bscl2 deficiency

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Ataxia
• Motor delay

SOURCES: ORPHANET OMIM MONDO UMLS

Medium match SCHAAF-YANG SYNDROME; SHFYNG

SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

SCHAAF-YANG SYNDROME; SHFYNG Is also known as prader-willi-like syndrome;pwls;pws due to a point mutation; schaaf-yang syndrome

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

SOURCES: OMIM ORPHANET UMLS MONDO GARD

Medium match PRADER-WILLI SYNDROME; PWS

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

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

SOURCES: OMIM

Medium match OBESITY DUE TO SIM1 DEFICIENCY

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

SOURCES: ORPHANET

Medium match TENORIO SYNDROME; TNORS

Tenorio syndrome is characterized by overgrowth, macrocephaly, and intellectual disability (ID). Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (OMIM ) (summary by Tenorio et al., 2014).

TENORIO SYNDROME; TNORS Is also known as overgrowth, macrocephaly, and intellectual disability syndrome

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Generalized hypotonia
• Scoliosis

SOURCES: MONDO UMLS OMIM

Medium match HYPERINSULINISM DUE TO UCP2 DEFICIENCY

HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.

HYPERINSULINISM DUE TO UCP2 DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to ucp2 deficiency

• Seizures
• Global developmental delay
• Cognitive impairment
• Hepatomegaly
• Coma

SOURCES: ORPHANET

Medium match AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY

Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY Is also known as autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency

• Seizures
• Global developmental delay
• Microcephaly
• Cognitive impairment
• Hepatomegaly

SOURCES: ORPHANET

Medium match AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY Is also known as autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency; dominant katp hyperinsulinism due to kir6.2 deficiency

• Seizures
• Global developmental delay
• Microcephaly
• Cognitive impairment
• Hepatomegaly

SOURCES: ORPHANET

Medium match MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1

MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1 Is also known as mssgm

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

SOURCES: UMLS OMIM