Global developmental delay, and Constipation

• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia
• Abnormal facial shape

SOURCES: OMIM MENDELIAN

Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

• Global developmental delay
• Short stature
• Growth delay
• Muscle weakness
• Muscular hypotonia

SOURCES: ORPHANET MENDELIAN

The 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, are distinguished by the changes in serum potassium levels during paralytic attacks. An important clinical difference between the 2 entities is represented by the triggers of attacks of weakness, e.g., HYPP can be provoked by oral potassium administration, whereas this is a remedy for HOKPP. Concurrence of myotonia is found in HYPP but usually not in HOKPP patients (Jurkat-Rott et al., 2000).Jurkatt-Rott and Lehmann-Horn (2007) provided a review of the clinical features, pathogenesis, and therapeutic options for HYPP.

HYPERKALEMIC PERIODIC PARALYSIS; HYPP Is also known as adynamia episodica hereditaria with or without myotonia|gamstorp disease

• Global developmental delay
• Short stature
• Microcephaly
• Muscle weakness
• Abnormal facial shape

SOURCES: OMIM MENDELIAN

PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC Is also known as paralysis periodica paramyotonica

• Global developmental delay
• Generalized hypotonia
• Muscle weakness
• Abnormal facial shape
• Pain

SOURCES: OMIM MENDELIAN

Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.

NEPHROGENIC DIABETES INSIPIDUS Is also known as ndi|diabetes insipidus, nephrogenic, type i

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

SOURCES: OMIM ORPHANET MENDELIAN

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Hypoplasia of the corpus callosum
• Intellectual disability, mild

SOURCES: OMIM MENDELIAN

Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

• Global developmental delay
• Short stature
• Growth delay
• Muscular hypotonia
• Fatigue

SOURCES: ORPHANET MENDELIAN

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

MALONIC ACIDURIA Is also known as malonyl-coa decarboxylase deficiency

• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia
• Failure to thrive

SOURCES: OMIM MESH ORPHANET MENDELIAN

Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.

RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME Is also known as trh resistance syndrome|central hypothyroidism due to trh receptor deficiency

• Global developmental delay
• Generalized hypotonia
• Growth delay
• Muscular hypotonia
• Feeding difficulties

SOURCES: ORPHANET MENDELIAN

Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

• Global developmental delay
• Short stature
• Growth delay
• Muscle weakness
• Muscular hypotonia

SOURCES: ORPHANET MENDELIAN