Delayed speech and language development, and Clinodactyly

Low 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

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Pica

SOURCES: DOID MONDO UMLS OMIM

Low match NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

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

SOURCES: OMIM

Low match MENTAL RETARDATION, X-LINKED 91; MRX91

• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia
• Pica

SOURCES: MONDO MESH UMLS OMIM

Low 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

Low match YOU-HOOVER-FONG SYNDROME; YHFS

YOU-HOOVER-FONG SYNDROME; YHFS Is also known as ;you-hoover-fong syndrome

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

SOURCES: UMLS OMIM ORPHANET MONDO

Low 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

Low match CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; CHDFIDD

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

SOURCES: UMLS MONDO OMIM

Low 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

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem and associated with severe developmental delay (Edvardson et al., 2007).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6 Is also known as encephalopathy, fatal infantile, with mitochondrial respiratory chain defects;fatal infantile encephalopathy with mitochondrial respiratory chain defects; pch6

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

SOURCES: ORPHANET SCTID MESH GARD DOID UMLS MONDO OMIM