Delayed speech and language development, and Inflammatory abnormality of the skin

Low match IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

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

SOURCES: OMIM

Low match ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Delayed speech and language development
• Hyperreflexia

SOURCES: MESH MONDO OMIM UMLS

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

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

SOURCES: UMLS ORPHANET OMIM

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F

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 If; CDG1F Is also known as cdg if;cdgif;cdg syndrome type if; cdg-if; cdg1f; carbohydrate deficient glycoprotein syndrome type if; congenital disorder of glycosylation type 1f; congenital disorder of glycosylation type if

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

SOURCES: MESH GARD UMLS NCIT MONDO SCTID OMIM ORPHANET

Low match IMMUNODEFICIENCY 49; IMD49

IMMUNODEFICIENCY 49; IMD49 Is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities, scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities

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

SOURCES: UMLS MONDO OMIM

Low match LIPOID PROTEINOSIS OF URBACH AND WIETHE

Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane (summary by Hamada et al., 2002 and Hamada et al., 2003).

LIPOID PROTEINOSIS OF URBACH AND WIETHE Is also known as lipoid proteinosis, urbach-wiethe disease, hyalinosis cutis et mucosae;hyalinosis cutis et mucosae; urbach-wiethe disease

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Pica
• High palate

SOURCES: SCTID MESH GARD DOID OMIM NCIT UMLS ORPHANET MONDO

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

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

SOURCES: UMLS MONDO OMIM MESH

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48

MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48 Is also known as ;

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

SOURCES: MONDO UMLS DOID ORPHANET OMIM

Low match CHROMOSOME 15q14 DELETION SYNDROME

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

CHROMOSOME 15q14 DELETION SYNDROME Is also known as ;del(15)(q14); monosomy 15q14

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

SOURCES: UMLS OMIM SCTID MONDO ORPHANET

Low match AICARDI-GOUTIERES SYNDROME 7; AGS7

Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

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

SOURCES: UMLS MONDO OMIM