Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar


Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

Gamma aminobutyric acid

Mental retardation epilepsy

palpebral conjunctival

Cystic-multilocular variant

transaminase deficiency telangiectasias and IgA deficiency

epilepsy palpebral conjunctival

Piriformis syndrome Xerotic Keratitis

4 alpha aminobutyrate telangiectasias and IgA deficiency

Clear cell RCC

transaminase deficiency

Gamma aminobutyrate

Mental retardation Pyrimidinemia familial Retinol Deficiency

Clear cell renal cell carcinoma transaminase deficiency Epilepsy telangiectasia

Mental retardation gynecomastia

Pyroglutamicaciduria Vitamin A Deficiency

Cleft hand absent tibia Gamma-A-globulin

obesity X-linked

Mental retardation hip luxation

Pyropoikilocytosis XK syndrome

Aplasia of tibia with ectrodactyly IgA deficiency

G6PD variant Pyrosis Garcia-Lurie syndrome

Tibial aplasia with split-hand/split-foot

Mental retardation hypocupraemia

deformity Immunoglobulin A deficiency hypobetalipoproteinaemia Pyruvate carboxylase deficiency XK aprosencephaly

Split-hand/foot malformation with Gamma-cystathionase Mental retardation hypocupremia

long bone deficiency


hypobetalipoproteinemia Ataxia with lactic acidosis 2 Aprosencephaly syndrome

Ectrodactyly with aplasia of long

mental retardation hypogonadism Leigh syndrome due to pyruvate Aprosencephaly-atelencephaly

bones Cystathioninuria


carboxylase deficiency

Leigh necrotizing encephalopathy


Cleft lip and palate malrotation Gamma-glutamyl

Cataract mental retardation due to pyruvate carboxylase


transpeptidase deficiency hypogonadism

deficiency XK-aprosencephaly syndrome

Cleft lip and/or palate with mucous Gamma-glutamylcysteine

Pyruvate dehydrogenase complex

cysts of lower

synthetase deficiency Martsolf syndrome

deficiency XLAG

Cleft lip and/or palate with mucous Glutamate-cysteine ligase Mental retardation hypotonia skin Pyruvate dehydrogenase

cysts of lower lip



Mental retardation macrocephaly

deficiency X-linked agammaglobulinemia

Lip pit syndrome Gamma-hydroxybutyricaciduria

SSADH deficiency (succinic

coarse facies hypotonia PDHC XLAG syndrome

semialdehyde dehydrogenase Mental retardation microcephaly Pyruvate dehydrogenase



phalangeal facial

phosphatase deficiency

Lactic acidemia with pyruvate

X-linked 1 Amelogenesis imperfecta

Mental retardation microcephaly dehydrogenase phosphatase

LPS Gamstorp disease

unusual facies

deficiency X-linked Enamel hypoplasia

Hyperkaliemic periodic

hypoplastic/hypomaturation X-linked


paralysis type 2 Mental retardation multiple nevi Pyruvate kinase deficiency 1 Amelogenesis imperfecta

Sodium channel muscle Mental retardation myopathy short

cleft lip palate


Adynamia episodica

stature endocrine defect Qazi-Markouizos syndrome Amelogenesis imperfecta X-linked 1

hereditaria with or without Mental retardation nasal hypoplasia

Lewis-Pashayan syndrome


obesity genital hypoplasia QPD Enamel hypoplasia X-linked

Cleft lip palate abnormal thumbs

X-linked 1 Charcot-Marie-Tooth

microcephaly Gamstorp episodic adynamy Mental retardation nasal papillomata Quebec platelet disorder


Cleft lip palate deafness sacral

Charcot-Marie-Tooth peroneal

lipoma Gangliosidosis GM2 type 1 Mental retardation osteosclerosis Factor V Quebec

muscular atrophy X-linked

Cleft lip palate dysmorphism Kumar

Mental retardation progressive

X-linked Hereditary motor and

type Tay Sachs disease


Mental retardation psychosis

Quadriceps-sparing myopathy sensory neuropathy

Cleft lip palate ectrodactyly Tay-Sachs Sphingolipidosis macroorchidism Nonaka myopathy X-linked HMSN

Cleft lip palate incisor and finger

Mental retardation short broad

anomalies B variant GM2 gangliosidosis thumbs DMRV HMSN X-linked

Cleft lip palate mental retardation

Mental retardation short stature

corneal opacity HexA deficiency

absent phalanges Inclusion body myopathy CMTX 1

Cleft lip palate oligodontia syndactyly

Mental retardation short stature Hereditary inclusion body X-linked Charcot-Marie-Tooth

pili torti Sphingolipidosis Tay-Sachs Bombay phenotype


peroneal muscular atrophy

Mental retardation short stature cleft

Hereditary motor and sensory

Cleft lip palate pituitary deficiency type 1 GM2 gangliosidosis palate unusual facies HIBM

neuropathy X-linked

Mental retardation short stature Distal myopathy with rimmed X-linked 1 Spinal and bulbar

Cleft lip palate-tetraphocomelia GM2 gangliosidosis type 1 deafness genital


muscular atrophy

Quinoid dihydropteridine reductase X-linked recessive Bulbospinal

Cleft lip retinopathy type 1 Gangliosidosis GM2 Ieshima Koeda Inagaki syndrome deficiency


Ausems wittebol post hennekam Hexosaminidase alpha-subunit Mental retardation short stature


deficiency (variant B)

hand contractures genital anomalies

Mental retardation short stature

QDPR deficiency SMAX1

cleft lip with or without cleft palate

Cleft lip/palate agenesis of clavicles

Hexosaminidase A deficiency heart and skeletal anomalies PKU atypical Spinal and bulbar muscular atrophy

and cervical vertebrae and talipes

Mental retardation short stature

equinovarus GANT

heart and skeletal defects PKU2 SBMA

Gastrointestinal autonomic Mental retardation short stature

Bulbospinal muscular atrophy X-

Crane-Heise syndrome

agenesis of clavicles and cervical

nerve tumor

hypertelorism Phenylketonuria type 2


vertebrae and talipes equinovarus

Mental retardation short stature Dihydropteridine reductase X-linked Bulbospinal muscular

Cleft lip/palate Plexosarcoma

microcephaly eye



Cleft lip/palate-ectodermal dysplasia

Bouwes Bavinck Weaver Ellis

syndrome GAPDH deficiency

syndrome atypical PKU X-BSMA

Glyceraldehyde-3-phosphate Mental retardation short stature


dehydrogenase deficiency ocular and articular anomalies DHPR deficiency Kennedy disease

Garcia torres guarner Mental retardation short stature

Spinal and bulbar muscular atrophy

Zlotogora syndrome


scoliosis Quinquaud's decalvans folliculitis X-linked 1

Leiomyomatosis of esophagus Mental retardation short stature

Bulbospinal neuronopathy X-linked

Zlotogora-Ogur syndrome

cataract hematuria

unusual facies Quinquaud's folliculitis depilans recessive

Cleft lip/palate-oligodontia-

Gardner silengo wachtel Mental retardation skeletal dysplasia

Kennedy spinal and bulbar muscular

syndactyly-hair alterations


abducens palsy QuinquaudÆs disease


Martinez Monasterio Pinheiro Gardner-Morrison-Abbott Mental retardation sparse hair




Mental retardation spasticity

Folliculitis decalvans X-linked 14 Mental retardation

Cleft lip-palate Garret Tripp syndrome ectrodactyly ArnozanÆs syndrome MRX14

spasticity and transverse limb

Mental retardation X-linked

Kapur-Toriello syndrome Gas bloat syndrome

defects Mental retardation QuinquaudÆs syndrome

nonspecific type 14

Cleft lower lip cleft lateral canthi

Ectrodactyly spastic paraplegia and

X-linked nonspecific type 14 Mental

chorioretinal Post-fundoplication syndrome mental retardation R(19) syndrome


Cleft median of upper lip with polyps

Mental retardation spasticity and

of facial skin and nasal mucosa Gastrocutaneous syndrome transverse limb defects Ring chromosome 19 syndrome X-linked 2 Spinocerebellar ataxia


early-onset Cerebellar ataxia with

Pai Levkoff syndrome

neuroendocrine tumor Jancar syndrome

spastic paraplegia and mental

(19)r syndrome

extrapyramidal involvement

Pai syndrome Gastrointestinal stromal tumor retardation Ectrodactyly Chromosome 19 ring syndrome SCAX2

median of upper lip with polyps of Gastrointestinal Stromal Mental retardation Stocco dos

Cerebellar ataxia with extrapyramidal

facial skin and nasal mucosa Cleft Tumors

Santos type Rabies

involvement early-onset

corpus callosum lipoma and skin Gastrointestinal Stromal

X-linked alpha thalassemia mental

polyps Median cleft lip

Sarcoma Stocco dos Santos syndrome Lyssa

retardation syndrome (ATR-X)

Cleft mitral valve Gastroschisis Stocco dos Santos X-linked mental Radial and patellar aplasia X-linked anencephaly/spina bifida


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