Delayed speech and language development, and Clinodactyly of the 5th finger

Medium match BRACHYDACTYLY, TYPE A1, D; BDA1D

• Autosomal dominant inheritance
• Delayed speech and language development
• Brachydactyly
• Clinodactyly of the 5th finger
• Syndactyly

SOURCES: DOID UMLS MONDO OMIM

Medium match CHROMOSOME 16p13.2 DELETION SYNDROME

CHROMOSOME 16p13.2 DELETION SYNDROME Is also known as ;del(16)(p13.2); monosomy 16p13.2

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

SOURCES: MONDO UMLS OMIM ORPHANET

Medium match LESCH-NYHAN SYNDROME; LNS

LESCH-NYHAN SYNDROME; LNS Is also known as hypoxanthine guanine phosphoribosyltransferase 1 deficiency, hprt1 deficiency, hprt deficiency, hprt deficiency, complete

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

SOURCES: ORPHANET OMIM ICD10

Medium match MASA SYNDROME

The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Some forms of SPG are considered 'uncomplicated,' i.e., progressive spasticity occurs in isolation; others are considered 'complicated,' i.e., progressive spasticity occurs with other neurologic features. X-linked, autosomal dominant (see {182600}), and autosomal recessive (see {270800}) forms of SPG have been described.Spastic paraplegia-1 is usually called MASA syndrome, the designation originally suggested by Bianchine and Lewis (1974), because the main clinical features are summarized by the acronym MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs). The shuffling gait is probably caused by spasticity of the lower limbs, and all affected males have been reported to have increased reflexes. The adducted thumbs are thought to be caused by hypoplastic or absent extensor pollicis longus or brevis muscles. In affected males, the onset of speech is delayed (Winter et al., 1989).See {314100} for isolated X-linked congenital clasped thumb and {201550} for an autosomal adducted thumbs syndrome. Genetic Heterogeneity of X-linked Spastic ParaplegiaOther forms of X-linked spastic paraplegia include SPG2 (OMIM ), caused by mutation in the myelin proteolipid protein gene (PLP1 ); SPG16 (OMIM ), mapped to Xq11.2-q23; and SPG34 (OMIM ), mapped to Xq24-q25.

MASA SYNDROME Is also known as mental retardation, aphasia, shuffling gait, and adducted thumbs, spastic paraplegia 1, x-linked;spg1, clasped thumb and mental retardation, thumb, congenital clasped, with mental retardation, adducted thumb with mental retardation, gareis-mason syndrome, crash syndrome;intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome

• Intellectual disability
• Global developmental delay
• Short stature
• Pica
• Microcephaly

SOURCES: GARD NCIT MONDO OMIM UMLS SCTID DOID ORPHANET

Medium match 6Q16 DELETION SYNDROME

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16); monosomy 6q16; prader-willi-like syndrome due to deletion 6q16

• Global developmental delay
• Short stature
• Microcephaly
• Hypertelorism
• Nystagmus

SOURCES: ORPHANET

Medium match CHROMOSOME 15q11-q13 DUPLICATION SYNDROME

The features of the chromosome 15q11-q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems (Bundey et al., 1994; Burnside et al., 2011).See also chromosome 15q13.3 deletion syndrome (OMIM ) and chromosome 15q11.2 deletion syndrome (OMIM ).For a discussion of genetic heterogeneity of autism, see {209850}.

CHROMOSOME 15q11-q13 DUPLICATION SYNDROME Is also known as duplication 15q11-q13 syndrome;15q11-q13 duplication syndrome; 15q11-q13 microduplication syndrome; 15q11q13 duplication syndrome; dup(15)(q11q13); trisomy 15q11-q13; trisomy 15q11q13

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

SOURCES: NCIT SCTID MONDO OMIM ORPHANET UMLS

Medium match 2Q23.1 MICRODELETION SYNDROME

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as del(2)(q23.1); monosomy 2q23.1; pseudo-angelman syndrome

• Seizures
• Short stature
• Microcephaly
• Ataxia
• Growth delay

SOURCES: ORPHANET

Medium match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as oddd, autosomal recessive, oculodentoosseous dysplasia, autosomal recessive, odod, autosomal recessive

• Autosomal recessive inheritance
• Global developmental delay
• Short stature
• Pica
• Micrognathia

SOURCES: GARD OMIM UMLS MESH MONDO

Medium match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

• Intellectual disability
• Short stature
• Generalized hypotonia
• Hearing impairment
• Micrognathia

SOURCES: OMIM UMLS MONDO

Medium match MENTAL RETARDATION, X-LINKED 98; MRX98

X-linked mental retardation-98 is a neurodevelopmental disorder characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures. Some carrier females are unaffected, whereas other females with mutations are affected; males tend to be more severely affected than females. It is believed that the phenotypic variability and disease manifestations in female carriers results from skewed X-inactivation or cellular mosaicism (summary by de Lange et al., 2016).

MENTAL RETARDATION, X-LINKED 98; MRX98 Is also known as ;

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

SOURCES: UMLS OMIM SCTID MONDO ORPHANET